Seizures

Symptom Information:

Symptom ID: HPO:0001250
Synonyms:
Epilepsy [HPO:0001250]
Seizure [HPO:0001250]
Epilepsy [Orphanet:43390]
Seizure [Orphanet:43390]
Epileptic seizure (finding) [Orphanet:43390]
Seizure disorder (disorder) [Orphanet:43390]
Epilepsy (disorder) [Orphanet:43390]
Seizure (finding) [Orphanet:43390]
Seizures [Orphanet:43390]
Epilepsy [OMIM:Epilepsy]
Seizure [OMIM:Seizure]
Seizures [OMIM:Seizures]
Seizures/epilepsy/absences/spasms/status epilepticus [Orphanet:43390]
Epilepsy [MedDRA:10015037]
Epilepsy aggravated [MedDRA:10015037]
Epilepsy equivalent [MedDRA:10015037]
Epilepsy NOS [MedDRA:10015037]
Epilepsy, unspecified [MedDRA:10015037]
Epilepsy, unspecified, with intractable epilepsy [MedDRA:10015037]
Epilepsy, unspecified, without mention of intractable epilepsy [MedDRA:10015037]
Epileptic equivalent [MedDRA:10015037]
Epileptic fit [MedDRA:10015037]
Epileptic seizure [MedDRA:10015037]
Epileptiform attacks (NOS) [MedDRA:10015037]
Epileptiform attacks NOS [MedDRA:10015037]
Epileptiform fits NOS [MedDRA:10015037]
Epileptiform movement [MedDRA:10015037]
Fit (in known epileptic) [MedDRA:10015037]
Late onset epilepsy [MedDRA:10015037]
Other forms of epilepsy [MedDRA:10015037]
Other forms of epilepsy, with intractable epilepsy [MedDRA:10015037]
Other forms of epilepsy, without mention of intractable epilepsy [MedDRA:10015037]
Intractable epilepsy [MedDRA:10015037]
Secondary epilepsy [MedDRA:10015037]
Symptomatic epilepsy [MedDRA:10015037]
Generalised epileptic seizure [MedDRA:10015037]
Generalized epileptic seizure [MedDRA:10015037]
Convulsion [MedDRA:10010904]
Afebrile convulsion [MedDRA:10010904]
Afebrile seizure [MedDRA:10010904]
Classic fit [MedDRA:10010904]
Convulsion (excl neonatal) [MedDRA:10010904]
Convulsion (NOS) [MedDRA:10010904]
Convulsion disorder [MedDRA:10010904]
Convulsions [MedDRA:10010904]
Convulsions aggravated [MedDRA:10010904]
Convulsions generalised [MedDRA:10010904]
Convulsions generalized [MedDRA:10010904]
Convulsions NOS [MedDRA:10010904]
Convulsions NOS aggravated [MedDRA:10010904]
Convulsive disorder [MedDRA:10010904]
Convulsive movements [MedDRA:10010904]
Convulsive seizure [MedDRA:10010904]
Disorder convulsive [MedDRA:10010904]
First episode fitting [MedDRA:10010904]
Fit [MedDRA:10010904]
Fit (non-epileptic) [MedDRA:10010904]
Fits NOS [MedDRA:10010904]
Fitting [MedDRA:10010904]
Generalised convulsion [MedDRA:10010904]
Seizure [MedDRA:10010904]
Seizure cerebral [MedDRA:10010904]
Seizures [MedDRA:10010904]
Seizures cerebral [MedDRA:10010904]
Tetany-like seizure [MedDRA:10010904]
Breakthrough seizure [MedDRA:10010904]
Non-epileptic seizure [MedDRA:10010904]
Afebrile seizures [OMIM:Afebrile seizures]
Epilepsy (in some patients) [OMIM:Epilepsy (in some patients)]
Seizure (Jacksonian) [OMIM:Seizure (Jacksonian)]
Seizure (in a subset of patients in infancy) [OMIM:Seizure (in a subset of patients in infancy)]
Seizure (in some patients) [OMIM:Seizure (in some patients)]
Seizure disorder [OMIM:Seizure disorder]
Seizure disorder (homozygote) [OMIM:Seizure disorder (homozygote)]
Seizures (1 family) [OMIM:Seizures (1 family)]
Seizures (1 patient) [OMIM:Seizures (1 patient)]
Seizures (2 patients) [OMIM:Seizures (2 patients)]
Seizures (2-10% of patients) [OMIM:Seizures (2-10% of patients)]
Seizures (3 patients) [OMIM:Seizures (3 patients)]
Seizures (40%) [OMIM:Seizures (40%)]
Seizures (50% of patients) [OMIM:Seizures (50% of patients)]
Seizures (50%) [OMIM:Seizures (50%)]
Seizures (> 90%) [OMIM:Seizures (> 90%)]
Seizures (CVS+) [OMIM:Seizures (CVS+)]
Seizures (MEB) [OMIM:Seizures (MEB)]
Seizures (about 50% of patients) [OMIM:Seizures (about 50% of patients)]
Seizures (adult) [OMIM:Seizures (adult)]
Seizures (eclampsia) [OMIM:Seizures (eclampsia)]
Seizures (if left untreated) [OMIM:Seizures (if left untreated)]
Seizures (in 1 of 3 patients) [OMIM:Seizures (in 1 of 3 patients)]
Seizures (in 1 patient) [OMIM:Seizures (in 1 patient)]
Seizures (in 2 of 6 patients) [OMIM:Seizures (in 2 of 6 patients)]
Seizures (in 2 of 9 patients) [OMIM:Seizures (in 2 of 9 patients)]
Seizures (in 2 patients) [OMIM:Seizures (in 2 patients)]
Seizures (in 35%) [OMIM:Seizures (in 35%)]
Seizures (in most patients) [OMIM:Seizures (in most patients)]
Seizures (in one patient) [OMIM:Seizures (in one patient)]
Seizures (in some patients) [OMIM:Seizures (in some patients)]
Seizures (in some patients)) [OMIM:Seizures (in some patients))]
Seizures (in some) [OMIM:Seizures (in some)]
Seizures (juvenile form) [OMIM:Seizures (juvenile form)]
Seizures (less common) [OMIM:Seizures (less common)]
Seizures (mean onset 4-5 months) [OMIM:Seizures (mean onset 4-5 months)]
Seizures (onset <2 years) [OMIM:Seizures (onset <2 years)]
Seizures (rare) [OMIM:Seizures (rare)]
Seizures (rare, in males) [OMIM:Seizures (rare, in males)]
Seizures (reported in 1 family) [OMIM:Seizures (reported in 1 family)]
Seizures (reported in 2 patients) [OMIM:Seizures (reported in 2 patients)]
Seizures (some patients) [OMIM:Seizures (some patients)]
Seizures (tetany) [OMIM:Seizures (tetany)]
Seizures (type I and type II, juvenile) [OMIM:Seizures (type I and type II, juvenile)]
Seizures (uncommon) [OMIM:Seizures (uncommon)]
Seizures (variable) [OMIM:Seizures (variable)]
Seizures, afebrile [OMIM:Seizures, afebrile]
Seizures, convulsive [OMIM:Seizures, convulsive]
Seizures (incl subtypes) [MedDRA:10039911]
multifocal clonic fits [IBIS,cm]
Quality:
Cross references:
Orphanet:43390 "Seizures/epilepsy/absences/spasms/status epilepticus" [Orphanet:43390]
OMIM: "Epilepsy" [OMIM:Epilepsy]
OMIM: "Seizure" [OMIM:Seizure]
OMIM: "Seizures" [OMIM:Seizures]
OMIM: "Afebrile seizures" [OMIM:Afebrile seizures]
OMIM: "Epilepsy (in some patients)" [OMIM:Epilepsy (in some patients)]
OMIM: "Seizure (Jacksonian)" [OMIM:Seizure (Jacksonian)]
OMIM: "Seizure (in a subset of patients in infancy)" [OMIM:Seizure (in a subset of patients in infancy)]
OMIM: "Seizure (in some patients)" [OMIM:Seizure (in some patients)]
OMIM: "Seizure disorder" [OMIM:Seizure disorder]
OMIM: "Seizure disorder (homozygote)" [OMIM:Seizure disorder (homozygote)]
OMIM: "Seizures (1 family)" [OMIM:Seizures (1 family)]
OMIM: "Seizures (1 patient)" [OMIM:Seizures (1 patient)]
OMIM: "Seizures (2 patients)" [OMIM:Seizures (2 patients)]
OMIM: "Seizures (2-10% of patients)" [OMIM:Seizures (2-10% of patients)]
OMIM: "Seizures (3 patients)" [OMIM:Seizures (3 patients)]
OMIM: "Seizures (40%)" [OMIM:Seizures (40%)]
OMIM: "Seizures (50% of patients)" [OMIM:Seizures (50% of patients)]
OMIM: "Seizures (50%)" [OMIM:Seizures (50%)]
OMIM: "Seizures (> 90%)" [OMIM:Seizures (> 90%)]
OMIM: "Seizures (CVS+)" [OMIM:Seizures (CVS+)]
OMIM: "Seizures (MEB)" [OMIM:Seizures (MEB)]
OMIM: "Seizures (about 50% of patients)" [OMIM:Seizures (about 50% of patients)]
OMIM: "Seizures (adult)" [OMIM:Seizures (adult)]
OMIM: "Seizures (eclampsia)" [OMIM:Seizures (eclampsia)]
OMIM: "Seizures (if left untreated)" [OMIM:Seizures (if left untreated)]
OMIM: "Seizures (in 1 of 3 patients)" [OMIM:Seizures (in 1 of 3 patients)]
OMIM: "Seizures (in 1 patient)" [OMIM:Seizures (in 1 patient)]
OMIM: "Seizures (in 2 of 6 patients)" [OMIM:Seizures (in 2 of 6 patients)]
OMIM: "Seizures (in 2 of 9 patients)" [OMIM:Seizures (in 2 of 9 patients)]
OMIM: "Seizures (in 2 patients)" [OMIM:Seizures (in 2 patients)]
OMIM: "Seizures (in 35%)" [OMIM:Seizures (in 35%)]
OMIM: "Seizures (in most patients)" [OMIM:Seizures (in most patients)]
OMIM: "Seizures (in one patient)" [OMIM:Seizures (in one patient)]
OMIM: "Seizures (in some patients)" [OMIM:Seizures (in some patients)]
OMIM: "Seizures (in some patients))" [OMIM:Seizures (in some patients))]
OMIM: "Seizures (in some)" [OMIM:Seizures (in some)]
OMIM: "Seizures (juvenile form)" [OMIM:Seizures (juvenile form)]
OMIM: "Seizures (less common)" [OMIM:Seizures (less common)]
OMIM: "Seizures (mean onset 4-5 months)" [OMIM:Seizures (mean onset 4-5 months)]
OMIM: "Seizures (onset <2 years)" [OMIM:Seizures (onset <2 years)]
OMIM: "Seizures (rare)" [OMIM:Seizures (rare)]
OMIM: "Seizures (rare, in males)" [OMIM:Seizures (rare, in males)]
OMIM: "Seizures (reported in 1 family)" [OMIM:Seizures (reported in 1 family)]
OMIM: "Seizures (reported in 2 patients)" [OMIM:Seizures (reported in 2 patients)]
OMIM: "Seizures (some patients)" [OMIM:Seizures (some patients)]
OMIM: "Seizures (tetany)" [OMIM:Seizures (tetany)]
OMIM: "Seizures (type I and type II, juvenile)" [OMIM:Seizures (type I and type II, juvenile)]
OMIM: "Seizures (uncommon)" [OMIM:Seizures (uncommon)]
OMIM: "Seizures (variable)" [OMIM:Seizures (variable)]
OMIM: "Seizures, afebrile" [OMIM:Seizures, afebrile]
OMIM: "Seizures, convulsive" [OMIM:Seizures, convulsive]
UMLS:C0036572 "Seizure" [HPO:0001250]
UMLS:C0014544 "Epilepsy" [Orphanet:43390]
UMLS:C0036572 "Seizures" [Orphanet:43390]
Is a (Direct Parents):
Orphanet Functional anomalies of the nervous system
MedDRA Seizures and seizure disorders NEC
MedDRA Nervous system disorders
HPO         Abnormality of nervous system physiology
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of the nervous system(HPO:0000707)
          Abnormality of nervous system physiology(HPO:0012638)
             Seizures(HPO:0001250)
MedDRA:
Nervous system disorders(MedDRA:10029205)
    Seizures(HPO:0001250)
Database Frequency: 1245 / 7739
Resource:

All diseases associated with this symptom:

10q22.3q23.3 microdeletion syndrome (Orphanet:276413)
14q11.2 microdeletion syndrome (Orphanet:261120)
14q12 microdeletion syndrome (Orphanet:261144)
15q11q13 microduplication syndrome (Orphanet:238446)
15q13.3 microdeletion syndrome (Orphanet:199318)
15q14 microdeletion syndrome (Orphanet:261190)
15q24 microdeletion syndrome (Orphanet:94065)
16p11.2p12.2 microduplication syndrome (Orphanet:261204)
16p13.11 microdeletion syndrome (Orphanet:261236)
16q24.3 microdeletion syndrome (Orphanet:261250)
17p11.2 microduplication syndrome (Orphanet:1713)
17q11.2 microduplication syndrome (Orphanet:139474)
17q12 microdeletion syndrome (Orphanet:261265)
17q12 microduplication syndrome (Orphanet:261272)
19p13.12 microdeletion syndrome (Orphanet:254346)
1p36 deletion syndrome (Orphanet:1606)
1q21.1 microdeletion syndrome (Orphanet:250989)
1q21.1 microduplication syndrome (Orphanet:250994)
1q41q42 microdeletion syndrome (Orphanet:250999)
1q44 microdeletion syndrome (Orphanet:238769)
2,4-@DIENOYL-CoA REDUCTASE DEFICIENCY (OMIM:616034)
2-methylbutyryl-CoA dehydrogenase deficiency (Orphanet:79157)
20p12.3 microdeletion syndrome (Orphanet:261295)
22q11.2 deletion syndrome (Orphanet:567)
22q11.2 microduplication syndrome (Orphanet:1727)
2p21 microdeletion syndrome (Orphanet:163693)
2q23.1 microdeletion syndrome (Orphanet:228402)
2q31.1 microdeletion syndrome (Orphanet:251014)
2q32q33 microdeletion syndrome (Orphanet:251019)
2q37 microdeletion syndrome (Orphanet:1001)
3-@METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY (OMIM:210200)
3-@METHYLGLUTACONIC ACIDURIA WITH CATARACTS, NEUROLOGIC INVOLVEMENT,AND NEUTROPENIA (OMIM:616271)
3-hydroxy-3-methylglutaryl-CoA synthase deficiency (Orphanet:35701)
3-hydroxyisobutyric aciduria (Orphanet:939)
3-methylglutaconic aciduria type 1 (Orphanet:67046)
3-methylglutaconic aciduria type 4 (Orphanet:67048)
3-phosphoglycerate dehydrogenase deficiency (Orphanet:79351)
3-phosphoserine phosphatase deficiency (Orphanet:79350)
3q29 microduplication (Orphanet:251038)
4-hydroxybutyric aciduria (Orphanet:22)
48,XXXY syndrome (Orphanet:96263)
48,XXYY syndrome (Orphanet:10)
49,XXXXY syndrome (Orphanet:96264)
4q21 microdeletion syndrome (Orphanet:238750)
5p13 microduplication syndrome (Orphanet:329802)
5q14.3 microdeletion syndrome (Orphanet:228384)
6-pyruvoyl-tetrahydropterin synthase deficiency (Orphanet:13)
6q25 microdeletion syndrome (Orphanet:251056)
8p11.2 deletion syndrome (Orphanet:251066)
8p23.1 microdeletion syndrome (Orphanet:251071)
ADAMS-OLIVER SYNDROME 1 (OMIM:100300)
ADAMS-OLIVER SYNDROME 2 (OMIM:614219)
ADAMS-OLIVER SYNDROME 5 (OMIM:616028)
AICA-ribosiduria (Orphanet:250977)
AICARDI-GOUTIERES SYNDROME 1 (OMIM:225750)
AICARDI-GOUTIERES SYNDROME 7 (OMIM:615846)
ALDH18A1-related De Barsy syndrome (Orphanet:35664)
ALG1-CDG (Orphanet:79327)
ALG11-CDG (Orphanet:280071)
ALG13-CDG (Orphanet:324422)
ALG2-CDG (Orphanet:79326)
ALG3-CDG (Orphanet:79321)
ALG6-CDG (Orphanet:79320)
ALG9-CDG (Orphanet:79328)
ALPHA-METHYLACYL-CoA RACEMASE DEFICIENCY (OMIM:614307)
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 (OMIM:614820)
ALZHEIMER DISEASE 3 (OMIM:607822)
ALZHEIMER DISEASE, FAMILIAL EARLY-ONSET, WITH COEXISTING AMYLOID ANDPRION PATHOLOGY (OMIM:605055)
ANGIOMATOSIS, DIFFUSE CORTICOMENINGEAL, OF DIVRY AND VAN BOGAERT (OMIM:206570)
ARTERITIS, FAMILIAL GRANULOMATOUS, WITH JUVENILE POLYARTHRITIS (OMIM:108050)
ARTHROGRYPOSIS, DISTAL, TYPE 2A (OMIM:193700)
ASPARAGINE SYNTHETASE (OMIM:108370)
ASPARAGINE SYNTHETASE DEFICIENCY (OMIM:615574)
ATAXIA WITH MYOCLONIC EPILEPSY AND PRESENILE DEMENTIA (OMIM:208700)
ATAXIA-TELANGIECTASIA (OMIM:208900)
ATP-BINDING CASSETTE, SUBFAMILY D, MEMBER 3 (OMIM:170995)
ATTRV122I amyloidosis (Orphanet:85451)
AUTISM (OMIM:209850)
AUTISM, SUSCEPTIBILITY TO, 3 (OMIM:608049)
AUTISM, SUSCEPTIBILITY TO, 8 (OMIM:607373)
AUTISM, SUSCEPTIBILITY TO, X-LINKED 1 (OMIM:300425)
AUTISM, SUSCEPTIBILITY TO, X-LINKED 2 (OMIM:300495)
AUTISM, SUSCEPTIBILITY TO, X-LINKED 3 (OMIM:300496)
Acro-cardio-facial syndrome (Orphanet:2008)
Acro-fronto-facio-nasal dysostosis (Orphanet:1784)
Acro-oto-ocular syndrome (Orphanet:2980)
Acrocallosal syndrome (Orphanet:36)
Acromegaloid facial appearance syndrome (Orphanet:965)
Acromelic frontonasal dysplasia (Orphanet:1827)
Acute infantile liver failure-multisystemic involvement syndrome (Orphanet:370088)
Acute intermittent porphyria (Orphanet:79276)
Acute necrotizing encephalopathy of childhood (Orphanet:263524)
Acyl-CoA dehydrogenase 9 deficiency (Orphanet:99901)
Adams-Oliver syndrome (Orphanet:974)
Adenylosuccinate lyase deficiency (Orphanet:46)
Adiposis dolorosa (Orphanet:36397)
Adrenomyeloneuropathy (Orphanet:139399)
Adrenomyodystrophy (Orphanet:977)
Adult neuronal ceroid lipofuscinosis (Orphanet:79262)
Aicardi syndrome (Orphanet:50)
Aicardi-Goutières syndrome (Orphanet:51)
Albright hereditary osteodystrophy (Orphanet:665)
Alexander disease (Orphanet:58)
Alopecia - epilepsy - pyorrhea - intellectual deficit (Orphanet:1008)
Alopecia - intellectual deficit - hypergonadotropic hypogonadism (Orphanet:1014)
Alopecia-intellectual deficit syndrome (Orphanet:2850)
Alpers syndrome (Orphanet:726)
Alpha-N-acetylgalactosaminidase deficiency (Orphanet:3137)
Alpha-N-acetylgalactosaminidase deficiency type 1 (Orphanet:79279)
Alpha-N-acetylgalactosaminidase deficiency type 3 (Orphanet:79281)
Alpha-thalassemia - X-linked intellectual deficit syndrome (Orphanet:847)
Alpha-thalassemia - intellectual deficit syndrome linked to chromosome 16 (Orphanet:98791)
Alström syndrome (Orphanet:64)
Alveolar echinococcosis (Orphanet:284)
Amelo-cerebro-hypohidrotic syndrome (Orphanet:1946)
Amelogenesis imperfecta and gingival hyperplasia syndrome (Orphanet:171836)
Amish infantile epilepsy syndrome (Orphanet:171714)
Amish lethal microcephaly (Orphanet:99742)
Angelman syndrome (Orphanet:72)
Angio-osteohypertrophic syndrome (Orphanet:2346)
Argininemia (Orphanet:90)
Argininosuccinic aciduria (Orphanet:23)
Arthrogryposis multiplex congenita - whistling face (Orphanet:1150)
Aspartylglucosaminuria (Orphanet:93)
Ataxia-telangiectasia (Orphanet:100)
Atherosclerosis - deafness - diabetes - epilepsy - nephropathy (Orphanet:1192)
Atkin-Flaitz syndrome (Orphanet:1193)
Atypical Gaucher disease due to saposin C deficiency (Orphanet:309252)
Atypical Rett syndrome (Orphanet:3095)
Atypical hemolytic uremic syndrome (Orphanet:2134)
Atypical hemolytic uremic syndrome with H factor anomaly (Orphanet:93579)
Atypical hemolytic uremic syndrome with anti-factor H antibodies (Orphanet:93581)
Atypical teratoid tumor (Orphanet:99966)
Autism spectrum disorder-epilepsy-arthrogryposis syndrome (Orphanet:370943)
Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency (Orphanet:308410)
Autoimmune polyendocrinopathy type 2 (Orphanet:3143)
Autosomal dominant Kenny-Caffey syndrome (Orphanet:93325)
Autosomal dominant hypophosphatemic rickets (Orphanet:89937)
Autosomal dominant nocturnal frontal lobe epilepsy (Orphanet:98784)
Autosomal dominant primary hypomagnesemia with hypocalcuria (Orphanet:34528)
Autosomal dominant spastic paraplegia type 3 (Orphanet:100984)
Autosomal dominant spastic paraplegia type 4 (Orphanet:100985)
Autosomal dominant spastic paraplegia type 6 (Orphanet:100988)
Autosomal recessive Kenny-Caffey syndrome (Orphanet:93324)
Autosomal recessive ataxia due to ubiquinone deficiency (Orphanet:139485)
Autosomal recessive cerebellar ataxia - epilepsy - intellectual deficit (Orphanet:284282)
Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome (Orphanet:363429)
Autosomal recessive chorioretinopathy-microcephaly (Orphanet:2518)
Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency (Orphanet:324262)
Autosomal recessive cutis laxa type 2 (Orphanet:90350)
Autosomal recessive cutis laxa type 2, classic type (Orphanet:357074)
Autosomal recessive cutis laxa type 2A (Orphanet:357058)
Autosomal recessive deafness-onychodystrophy syndrome (Orphanet:79500)
Autosomal recessive limb-girdle muscular dystrophy type 2T (Orphanet:363623)
Autosomal recessive malignant osteopetrosis (Orphanet:667)
Autosomal recessive primary hypomagnesemia with normocalcuria and hypocalcemia (Orphanet:30924)
Autosomal recessive primary microcephaly (Orphanet:2512)
Autosomal recessive spastic paraplegia type 11 (Orphanet:2822)
Autosomal recessive spastic paraplegia type 18 (Orphanet:209951)
Autosomal recessive spastic paraplegia type 35 (Orphanet:171629)
Autosomal recessive spastic paraplegia type 44 (Orphanet:320401)
Autosomal recessive spastic paraplegia type 46 (Orphanet:320391)
Autosomal recessive spastic paraplegia type 49 (Orphanet:320385)
Autosomal recessive spastic paraplegia type 55 (Orphanet:320375)
BAND HETEROTOPIA OF BRAIN (OMIM:600348)
BARAITSER-WINTER SYNDROME 1 (OMIM:243310)
BARAITSER-WINTER SYNDROME 2 (OMIM:614583)
BARTTER SYNDROME, ANTENATAL, TYPE 1 (OMIM:601678)
BARTTER SYNDROME, ANTENATAL, TYPE 2 (OMIM:241200)
BASAL GANGLIA CALCIFICATION, IDIOPATHIC, CHILDHOOD-ONSET (OMIM:114100)
BERRY ANEURYSM, CIRRHOSIS, PULMONARY EMPHYSEMA, AND CEREBRAL CALCIFICATION (OMIM:210050)
BRACHYDACTYLY, TYPE A2, WITH MICROCEPHALY (OMIM:211369)
BRESEK syndrome (Orphanet:85284)
Baller-Gerold syndrome (Orphanet:1225)
Bangstad syndrome (Orphanet:1227)
Bannayan-Riley-Ruvalcaba syndrome (Orphanet:109)
Baraitser-Winter syndrome (Orphanet:2995)
Bardet-Biedl syndrome 1 (OMIM:209900 )
Bardet-Biedl syndrome 10 (OMIM:615987)
Bardet-Biedl syndrome 2 (OMIM:615981)
Bardet-Biedl syndrome 3 (OMIM:600151)
Bardet-Biedl syndrome 9 (OMIM:615986)
Bartter syndrome (Orphanet:112)
Bartter syndrome with hypocalcemia (Orphanet:263417)
Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 (Orphanet:231117)
Behçet disease (Orphanet:117)
Benign adult familial myoclonic epilepsy (Orphanet:86814)
Benign familial infantile seizures (Orphanet:306)
Benign familial neonatal seizures (Orphanet:1949)
Benign occipital epilepsy (Orphanet:25968)
Beta-mannosidosis (Orphanet:118)
Beta-propeller protein-associated neurodegeneration (Orphanet:329284)
Beta-ureidopropionase deficiency (Orphanet:65287)
Bifunctional enzyme deficiency (Orphanet:300)
Bilateral frontal polymicrogyria (Orphanet:208444)
Bilateral frontoparietal polymicrogyria (Orphanet:101070)
Bilateral generalized polymicrogyria (Orphanet:208447)
Bilateral striopallidodentate calcinosis (Orphanet:1980)
Biotin-responsive basal ganglia disease (Orphanet:65284)
Biotinidase deficiency (Orphanet:79241)
Blepharophimosis-intellectual deficit syndrome, Ohdo type (Orphanet:2728)
Blepharophimosis-intellectual deficit syndrome, SBBYS type (Orphanet:3047)
Bohring-Opitz syndrome (Orphanet:97297)
Borjeson-Forssman-Lehmann syndrome (Orphanet:127)
Bowen-Conradi syndrome (Orphanet:1270)
Branchio-oculo-facial syndrome (Orphanet:1297)
C syndrome (Orphanet:1308)
CACH syndrome (Orphanet:135)
CADASIL (Orphanet:136)
CADDS (Orphanet:369942)
CANDLE syndrome (Orphanet:325004)
CARDIOFACIOCUTANEOUS SYNDROME 1 (OMIM:115150)
CARDIOFACIOCUTANEOUS SYNDROME 3 (OMIM:615279)
CATARACTS, CONGENITAL, WITH SENSORINEURAL DEAFNESS, DOWN SYNDROME-LIKEFACIAL APPEARANCE, SHORT STATURE, AND MENTAL RETARDATION (OMIM:601088)
CATEL-MANZKE SYNDROME (OMIM:616145)
CEDNIK syndrome (Orphanet:66631)
CELIAC DISEASE, SUSCEPTIBILITY TO, 1 (OMIM:212750)
CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME1 (OMIM:224050)
CEREBELLOPARENCHYMAL DISORDER II (OMIM:213100)
CEREBRAL CAVERNOUS MALFORMATIONS (OMIM:116860)
CEREBRAL CAVERNOUS MALFORMATIONS 2 (OMIM:603284)
CEREBRAL CAVERNOUS MALFORMATIONS 3 (OMIM:603285)
CHOREOATHETOSIS, FAMILIAL INVERTED (OMIM:118750)
CHOROID PLEXUS CALCIFICATION AND MENTAL RETARDATION (OMIM:215480)
CHROMOSOME 15q11.2 DELETION SYNDROME (OMIM:615656)
CHROMOSOME 16p12.1 DELETION SYNDROME, 520-KBFRAGILE SITE, DISTAMYCIN A TYPE, RARE, FRA(16)(p12.1), INCLUDED (OMIM:136570)
CHROMOSOME 1p32-p31 DELETION SYNDROME (OMIM:613735)
CHROMOSOME 5q12 DELETION SYNDROME (OMIM:615668)
CK syndrome (Orphanet:251383)
CLARK-BARAITSER SYNDROME (OMIM:300602)
CLN1 disease (Orphanet:228329)
CLN10 disease (Orphanet:228337)
CLN11 disease (Orphanet:314629)
CLN13 disease (Orphanet:352709)
CLN2 disease (Orphanet:228349)
CLN3 disease (Orphanet:228346)
CLN4A disease (Orphanet:228340)
CLN4B disease (Orphanet:228343)
CLN5 disease (Orphanet:228360)
CLN6 disease (Orphanet:228363)
CLN8 disease (Orphanet:228354)
CLN9 disease (Orphanet:228357)
COCKAYNE SYNDROME A (OMIM:216400)
COCKAYNE SYNDROME B (OMIM:133540)
CODAS syndrome (Orphanet:1458)
COENZYME Q10 DEFICIENCY, PRIMARY, 1 (OMIM:607426)
COENZYME Q10 DEFICIENCY, PRIMARY, 7 (OMIM:616276)
COFFIN-SIRIS SYNDROME (OMIM:135900)
COFS syndrome (Orphanet:1466)
COG4-CDG (Orphanet:263501)
COLD-INDUCED SWEATING SYNDROME 1 (OMIM:272430)
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20 (OMIM:615917)
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22 (OMIM:616045)
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24 (OMIM:616239)
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl (OMIM:614576)
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iy (OMIM:300934)
CONVULSIVE DISORDER, FAMILIAL, WITH PRENATAL OR EARLY ONSET (OMIM:217200)
CORNELIA DE LANGE SYNDROME 2 (OMIM:300590)
CORNELIA DE LANGE SYNDROME 5 (OMIM:300882)
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2 (OMIM:615282)
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3 (OMIM:615411)
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4 (OMIM:615412)
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5 (OMIM:615763)
CORTICOTROPIN-RELEASING HORMONE (OMIM:122560)
COWDEN SYNDROME 5 (OMIM:615108)
COWDEN SYNDROME 6 (OMIM:615109)
CRANIOSYNOSTOSIS-MENTAL RETARDATION-CLEFTING SYNDROME (OMIM:218650)
CYCLIC VOMITING SYNDROME (OMIM:500007)
Cabezas syndrome (Orphanet:85293)
Camptodactyly syndrome, Guadalajara type 1 (Orphanet:1327)
Canavan disease (Orphanet:141)
Carbamoylphosphate synthetase deficiency (Orphanet:147)
Cardiofaciocutaneous syndrome (Orphanet:1340)
Carnitine palmitoyl transferase 1A deficiency (Orphanet:156)
Carnitine palmitoyl transferase II deficiency (Orphanet:157)
Carnitine palmitoyl transferase II deficiency, neonatal form (Orphanet:228308)
Carnitine palmitoyl transferase II deficiency, severe infantile form (Orphanet:228305)
Carnitine-acylcarnitine translocase deficiency (Orphanet:159)
Carnosinemia (Orphanet:1361)
Carpenter-Waziri syndrome (Orphanet:93973)
Cataract - nephropathy - encephalopathy (Orphanet:1380)
Catecholaminergic polymorphic ventricular tachycardia (Orphanet:3286)
Catel-Manzke syndrome (Orphanet:1388)
Celiac disease, epilepsy and cerebral calcification syndrome (Orphanet:1459)
Central bilateral macrogyria (Orphanet:2431)
Central diabetes insipidus (Orphanet:178029)
Central nervous system calcification - deafness - tubular acidosis - anemia (Orphanet:3240)
Centronuclear myopathy (Orphanet:595)
Cerebro-reno-digital syndrome (Orphanet:1396)
Cerebroretinal vasculopathy (Orphanet:3421)
Cerebrotendinous xanthomatosis (Orphanet:909)
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency (Orphanet:293955)
Childhood-onset hypophosphatasia (Orphanet:247667)
Cholera (Orphanet:173)
Choreoacanthocytosis (Orphanet:2388)
Christianson syndrome (Orphanet:85278)
Chronic mucocutaneous candidiasis (Orphanet:1334)
Chudley-Lowry-Hoar syndrome (Orphanet:93971)
Chudley-McCullough syndrome (Orphanet:314597)
Chédiak-Higashi syndrome (Orphanet:167)
Citrullinemia type I (Orphanet:247525)
Citrullinemia type II (Orphanet:247585)
Classic maple syrup urine disease (Orphanet:268145)
Classical homocystinuria (Orphanet:394)
Classical phenylketonuria (Orphanet:79254)
Cleft palate (Orphanet:2014)
Coats plus syndrome (Orphanet:313838)
Cobblestone lissencephaly without muscular or ocular involvement (Orphanet:352682)
Cochleosaccular degeneration - cataract (Orphanet:3233)
Cockayne syndrome (Orphanet:191)
Coffin-Lowry syndrome (Orphanet:192)
Coffin-Siris syndrome (Orphanet:1465)
Cogan syndrome (Orphanet:1467)
Cohen syndrome (Orphanet:193)
Cold-induced sweating syndrome (Orphanet:157820)
Combined oxidative phosphorylation defect type 14 (Orphanet:319519)
Combined oxidative phosphorylation defect type 15 (Orphanet:319524)
Combined oxidative phosphorylation deficiency type 23 (ORPHA:444013)
Congenital bile acid synthesis defect type 4 (Orphanet:79095)
Congenital brain dysgenesis due to glutamine synthetase deficiency (Orphanet:71278)
Congenital cataract-hearing loss-severe developmental delay syndrome (Orphanet:300313)
Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome (Orphanet:1369)
Congenital disorder of glycosylation (Orphanet:137)
Congenital hydrocephalus (Orphanet:2185)
Congenital ichthyosis - intellectual deficit - spastic quadriplegia (Orphanet:352333)
Congenital intrauterine infection-like syndrome (Orphanet:1229)
Congenital lactic acidosis, Saguenay-Lac-St. Jean type (Orphanet:70472)
Congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect (Orphanet:280671)
Congenital muscular dystrophy type 1A (Orphanet:258)
Congenital muscular dystrophy with intellectual disability and severe epilepsy (Orphanet:329178)
Congenital neuronal ceroid lipofuscinosis (Orphanet:168486)
Congenital or early infantile CACH syndrome (Orphanet:157713)
Congenital rubella syndrome (Orphanet:290)
Congenital short bowel syndrome (Orphanet:2301)
Congenital toxoplasmosis (Orphanet:858)
Cornelia de Lange syndrome (Orphanet:199)
Corpus callosum agenesis - neuronopathy (Orphanet:1496)
Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation (Orphanet:300570)
Cortical dysplasia - focal epilepsy syndrome (Orphanet:163681)
Costello syndrome (Orphanet:3071)
Cowden syndrome (Orphanet:201)
Craniofacial dyssynostosis (Orphanet:1516)
Craniosynostosis - fibular aplasia (Orphanet:1533)
Craniosynostosis - hydrocephalus - Chiari I malformation - radioulnar synostosis (Orphanet:171839)
Craniosynostosis, Boston type (Orphanet:1541)
Cree leukoencephalopathy (Orphanet:99854)
Crigler-Najjar syndrome (Orphanet:205)
Crigler-Najjar syndrome type 1 (Orphanet:79234)
Cronkhite-Canada syndrome (Orphanet:2930)
Crouzon disease (Orphanet:207)
Cutis laxa (Orphanet:209)
Cutis marmorata telangiectatica congenita (Orphanet:1556)
Cystic leukoencephalopathy without megalencephaly (Orphanet:85136)
D,L-2-hydroxyglutaric aciduria (Orphanet:356978)
D-2-@HYDROXYGLUTARIC ACIDURIA 1 (OMIM:600721)
D-2-@HYDROXYGLUTARIC ACIDURIA 2 (OMIM:613657)
D-2-hydroxyglutaric aciduria (Orphanet:79315)
D-glyceric aciduria (Orphanet:941)
DEAFNESS, CONGENITAL, AND FAMILIAL MYOCLONIC EPILEPSY (OMIM:220300)
DEND syndrome (Orphanet:79134)
DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL (OMIM:125800)
DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED (OMIM:304800)
DIAMINOPENTANURIA (OMIM:222350)
DIGEORGE SYNDROME (OMIM:188400)
DK1-CDG (Orphanet:91131)
DPAGT1-CDG (Orphanet:86309)
DPM1-CDG (Orphanet:79322)
DYSMYELINATION WITH JAUNDICE (OMIM:224250)
Dandy-Walker malformation - facial hemangioma (Orphanet:1564)
Darier disease (Orphanet:218)
De Barsy syndrome (Orphanet:2962)
Deafness - onychodystrophy (Orphanet:3231)
Dentatorubral pallidoluysian atrophy (Orphanet:101)
Desmosterolosis (Orphanet:35107)
Developmental delay with autism spectrum disorder and gait instability (Orphanet:329195)
Dihydropteridine reductase deficiency (Orphanet:226)
Dihydropyrimidine dehydrogenase deficiency (Orphanet:1675)
Dihydropyrimidinuria (Orphanet:38874)
Distal 22q11.2 microdeletion syndrome (Orphanet:261330)
Distal 22q11.2 microduplication syndrome (Orphanet:261337)
Distal 7q11.23 microdeletion syndrome (Orphanet:254351)
Distal monosomy 10q (Orphanet:96148)
Distal monosomy 19p13.3 (Orphanet:96129)
Distal monosomy 1q (Orphanet:36367)
Distal monosomy 3p (Orphanet:1620)
Distal monosomy 6p (Orphanet:96125)
Distal monosomy 7q36 (Orphanet:1636)
Distal trisomy 15q (Orphanet:1707)
Donnai-Barrow syndrome (Orphanet:2143)
Dopa-responsive dystonia due to sepiapterin reductase deficiency (Orphanet:70594)
Dopamine beta-hydroxylase deficiency (Orphanet:230)
Duane retraction syndrome (Orphanet:233)
Dubowitz syndrome (Orphanet:235)
Dyschromatosis symmetrica hereditaria (Orphanet:41)
Dysequilibrium syndrome (Orphanet:1766)
Dysosteosclerosis (Orphanet:1782)
EAST syndrome (Orphanet:199343)
ENCEPHALOMYOPATHY, MITOCHONDRIAL, DUE TO VOLTAGE-DEPENDENT ANION CHANNELDEFICIENCY (OMIM:614520)
ENCEPHALOPATHY, PROGRESSIVE, WITH OR WITHOUT LIPODYSTROPHY (OMIM:615924)
EPILEPSY, FAMILIAL ADULT MYOCLONIC, 4 (OMIM:615127)
EPILEPSY, FAMILIAL ADULT MYOCLONIC, 5 (OMIM:615400)
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 3 (OMIM:608762)
EPILEPSY, NOCTURNAL FRONTAL LOBE, 3 (OMIM:605375)
EPILEPSY, NOCTURNAL FRONTAL LOBE, 4 (OMIM:610353)
EPILEPSY, PROGRESSIVE MYOCLONIC 7 (OMIM:616187)
EPILEPSY-TELANGIECTASIA (OMIM:226850)
EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET (OMIM:615369)
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27 (OMIM:616139)
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28 (OMIM:616211)
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5 (OMIM:613477)
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7 (OMIM:613720)
EPSILON-TRIMETHYLLYSINE HYDROXYLASE DEFICIENCY (OMIM:300872)
Early-onset parkinsonism - intellectual deficit (Orphanet:2379)
Ebola hemorrhagic fever (Orphanet:319218)
Ectodermal dysplasia syndrome (Orphanet:79373)
Edinburgh malformation syndrome (Orphanet:1895)
Ehlers-Danlos syndrome with periventricular heterotopia (Orphanet:82004)
Emanuel syndrome (Orphanet:96170)
Embryofetopathy due to oral anticoagulant therapy (Orphanet:1914)
Encephalocraniocutaneous lipomatosis (Orphanet:2396)
Encephalopathy due to GLUT1 deficiency (Orphanet:71277)
Encephalopathy due to beta-mercaptolactate-cysteine disulfiduria (Orphanet:1035)
Encephalopathy due to prosaposin deficiency (Orphanet:139406)
Encephalopathy due to sulfite oxidase deficiency (Orphanet:833)
Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome (Orphanet:319678)
Endomyocardial fibroelastosis (Orphanet:2022)
Epilepsy - microcephaly - skeletal dysplasia (Orphanet:1948)
Epilepsy telangiectasia (Orphanet:1951)
Epileptic encephalopathy with global cerebral demyelination (Orphanet:353217)
Epiphyseal dysplasia - hearing loss - dysmorphism (Orphanet:1825)
Episodic ataxia type 6 (Orphanet:209967)
Ethylmalonic encephalopathy (Orphanet:51188)
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1 (OMIM:158900)
FADD-related immunodeficiency (Orphanet:306550)
FG SYNDROME 4 (OMIM:300422)
FRUCTOSE AND GALACTOSE INTOLERANCE (OMIM:229500)
Fabry disease (Orphanet:324)
Facial asymmetry - temporal seizures (Orphanet:1167)
Facial dysmorphism - macrocephaly - myopia - Dandy-Walker malformation (Orphanet:1970)
Facioscapulohumeral dystrophy (Orphanet:269)
Familial Mediterranean fever (Orphanet:342)
Familial acute necrotizing encephalopathy (Orphanet:88619)
Familial amyloid polyneuropathy (Orphanet:85447)
Familial articular chondrocalcinosis (Orphanet:1416)
Familial atrial myxoma (Orphanet:615)
Familial benign copper deficiency (Orphanet:1551)
Familial dysautonomia (Orphanet:1764)
Familial encephalopathy with neuroserpin inclusion bodies (Orphanet:85110)
Familial focal epilepsy with variable foci (Orphanet:98820)
Familial glucocorticoid deficiency (Orphanet:361)
Familial hemophagocytic lymphohistiocytosis (Orphanet:540)
Familial hypomagnesemia - hypercalciuria - nephrocalcinosis (Orphanet:31043)
Familial isolated hypoparathyroidism (Orphanet:2238)
Familial isolated hypoparathyroidism due to agenesis of parathyroid gland (Orphanet:2239)
Familial isolated hypoparathyroidism due to impaired PTH secretion (Orphanet:189466)
Familial long QT syndrome (Orphanet:768)
Familial mesial temporal lobe epilepsy with febrile seizures (Orphanet:165805)
Familial multiple nevi flammei (Orphanet:624)
Familial or sporadic hemiplegic migraine (Orphanet:569)
Familial osteodysplasia, Anderson type (Orphanet:2769)
Familial primary hypomagnesemia with normocalcuria and normocalcemia (Orphanet:34527)
Familial steroid-resistant nephrotic syndrome with sensorineural deafness (Orphanet:280406)
Familial thrombocytosis (Orphanet:71493)
Familial vascular leukoencephalopathy (Orphanet:36383)
Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease (Orphanet:439854)
Fatal infantile lactic acidosis with methylmalonic aciduria (Orphanet:17)
Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3 (Orphanet:168566)
Febrile infection-related epilepsy syndrome (Orphanet:163703)
Female restricted epilepsy with intellectual deficit (Orphanet:101039)
Fetal Gaucher disease (Orphanet:85212)
Fibrodysplasia ossificans progressiva (Orphanet:337)
Filippi syndrome (Orphanet:3255)
Fine-Lubinsky syndrome (Orphanet:1272)
Flynn-Aird syndrome (Orphanet:2047)
Foix-Chavany-Marie syndrome (Orphanet:2048)
Fountain syndrome (Orphanet:3219)
Fragile X syndrome (Orphanet:908)
Free sialic acid storage disease (Orphanet:834)
Free sialic acid storage disease, infantile form (Orphanet:309324)
Freeman-Sheldon syndrome (Orphanet:2053)
Frontal encephalocele (Orphanet:1931)
Fructose-1,6-bisphosphatase deficiency (Orphanet:348)
Fryns syndrome (Orphanet:2059)
Fucosidosis (Orphanet:349)
Fumaric aciduria (Orphanet:24)
GCS1-CDG (Orphanet:79330)
GELEOPHYSIC DYSPLASIA 1 (OMIM:231050)
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1 (OMIM:604233)
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 3 (OMIM:611277)
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 7 (OMIM:613863)
GLUCOCORTICOID DEFICIENCY 1 (OMIM:202200)
GM1 gangliosidosis (Orphanet:354)
GM2-gangliosidosis, AB variant (Orphanet:309246)
GRACILE syndrome (Orphanet:53693)
GTP cyclohydrolase I deficiency (Orphanet:2102)
Galactosemia (Orphanet:352)
Galactosialidosis (Orphanet:351)
Galloway-Mowat syndrome (Orphanet:2065)
Gamma-aminobutyric acid transaminase deficiency (Orphanet:2066)
Gaucher disease (Orphanet:355)
Gaucher disease - ophthalmoplegia - cardiovascular calcification (Orphanet:2072)
Gaucher disease type 2 (Orphanet:77260)
Gaucher disease type 3 (Orphanet:77261)
Geleophysic dysplasia (Orphanet:2623)
Genitopatellar syndrome (Orphanet:85201)
Gingival fibromatosis-hypertrichosis syndrome (Orphanet:2026)
Gitelman syndrome (Orphanet:358)
Glutaryl-CoA dehydrogenase deficiency (Orphanet:25)
Glutathione synthetase deficiency with 5-oxoprolinuria (Orphanet:289846)
Glycine encephalopathy (Orphanet:407)
Glycogen storage disease due to acid maltase deficiency (Orphanet:365)
Glycogen storage disease due to glucose-6-phosphatase deficiency (Orphanet:364)
Glycogen storage disease due to hepatic glycogen synthase deficiency (Orphanet:2089)
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency (Orphanet:713)
Goldberg-Shprintzen megacolon syndrome (Orphanet:66629)
Gorlin syndrome (Orphanet:377)
Granulomatosis with polyangiitis (Orphanet:900)
Greig cephalopolysyndactyly syndrome (Orphanet:380)
Griscelli disease (Orphanet:381)
Griscelli disease type 1 (Orphanet:79476)
Griscelli disease type 2 (Orphanet:79477)
Grix-Blankenship-Peterson syndrome (Orphanet:2099)
Grubben-de Cock-Borghgraef syndrome (Orphanet:2101)
Guanidinoacetate methyltransferase deficiency (Orphanet:382)
Gómez-López-Hernández syndrome (Orphanet:1532)
HELSMOORTEL-VAN DER AA SYNDROME (OMIM:615873)
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 1 (OMIM:267700)
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 (OMIM:603553)
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4 (OMIM:603552)
HERNS syndrome (Orphanet:63261)
HHHH SYNDROME (OMIM:306960)
HOLOPROSENCEPHALY 1 (OMIM:236100)
HOLOPROSENCEPHALY 2 (OMIM:157170)
HOLOPROSENCEPHALY 9 (OMIM:610829)
HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 1 (OMIM:236600)
HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2 (OMIM:615219)
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1 (OMIM:239300)
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2 (OMIM:614749)
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3 (OMIM:614207)
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4 (OMIM:615716)
HYPERPHOSPHATEMIA, POLYURIA, AND SEIZURES (OMIM:239350)
HYPOADRENOCORTICISM, FAMILIAL (OMIM:240200)
HYPOGONADOTROPIC HYPOGONADISM 3 WITH OR WITHOUT ANOSMIA (OMIM:244200)
HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA (OMIM:610628)
Haddad syndrome (Orphanet:99803)
Hall-Riggs syndrome (Orphanet:2107)
Harrod syndrome (Orphanet:2115)
Hartnup syndrome (Orphanet:2116)
Hennekam syndrome (Orphanet:2136)
Hennekam-Beemer syndrome (Orphanet:2135)
Hepatic fibrosis - renal cysts - intellectual deficit (Orphanet:2031)
Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1 (Orphanet:137681)
Hereditary cerebral cavernous malformation (Orphanet:221061)
Hereditary cerebral hemorrhage with amyloidosis, Dutch type (Orphanet:100006)
Hereditary cerebral hemorrhage with amyloidosis, Italian type (Orphanet:324713)
Hereditary continuous muscle fiber activity (Orphanet:972)
Hereditary folate malabsorption (Orphanet:90045)
Hereditary fructose intolerance (Orphanet:469)
Hereditary hemorrhagic telangiectasia (Orphanet:774)
Hereditary hyperekplexia (Orphanet:3197)
Hereditary myoclonus - progressive distal muscular atrophy (Orphanet:2590)
Hereditary neurocutaneous angioma (Orphanet:1062)
Hereditary vascular retinopathy (Orphanet:71291)
Hernandez-Aguirre Negrete syndrome (Orphanet:2139)
Hirschsprung disease - ganglioneuroblastoma (Orphanet:2151)
Holmes-Gang syndrome (Orphanet:93970)
Holocarboxylase synthetase deficiency (Orphanet:79242)
Holoprosencephaly (Orphanet:2162)
Homocystinuria due to methylene tetrahydrofolate reductase deficiency (Orphanet:395)
Homocystinuria without methylmalonic aciduria (Orphanet:622)
Horizontal gaze palsy with progressive scoliosis (Orphanet:2744)
Huntington disease (Orphanet:399)
Huntington disease-like 3 (Orphanet:157946)
Hydatidosis (Orphanet:400)
Hydrocephalus with stenosis of aqueduct of Sylvius (Orphanet:2182)
Hyper-beta-alaninemia (Orphanet:309147)
Hyperammonemia due to N-acetylglutamate synthetase deficiency (Orphanet:927)
Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency (Orphanet:83639)
Hyperekplexia - epilepsy (Orphanet:163985)
Hyperimmunoglobulinemia D with periodic fever (Orphanet:343)
Hyperleucine-isoleucinemia (OMIM:238340)
Hyperlysinemia due to defect in lysine transport into mitochondria (OMIM:238710)
Hyperlysinemia, type I (OMIM:238700)
Hypermethioninemia encephalopathy due to adenosine kinase deficiency (Orphanet:289290)
Hyperornithinemia-hyperammonemia-homocitrullinuria (Orphanet:415)
Hyperphosphatasia-intellectual deficiency syndrome (Orphanet:247262)
Hyperprolinemia type 1 (Orphanet:419)
Hyperprolinemia type 2 (Orphanet:79101)
Hypocomplementemic urticarial vasculitis (Orphanet:36412)
Hypoinsulinemic hypoglycemia and body hemihypertrophy (Orphanet:293964)
Hypomyelination - congenital cataract (Orphanet:85163)
Hypomyelination with atrophy of basal ganglia and cerebellum (Orphanet:139441)
Hypoparathyroidism - deafness - renal disease (Orphanet:2237)
Hypophosphatasia (Orphanet:436)
Hypotonia with lactic acidemia and hyperammonemia (Orphanet:137908)
Hypotonia-speech impairment-severe cognitive delay syndrome (Orphanet:371364)
ICHTHYOSIS AND MALE HYPOGONADISMRUD SYNDROME, INCLUDED (OMIM:308200)
IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES (OMIM:615966)
IMMUNODEFICIENCY 37 (OMIM:616098)
INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, X-LINKED (OMIM:300048)
Ichthyosis follicularis - alopecia - photophobia (Orphanet:2273)
Immunoglobulin A vasculitis (Orphanet:761)
Incontinentia pigmenti (Orphanet:464)
Infantile Refsum disease (Orphanet:772)
Infantile axonal neuropathy (Orphanet:2679)
Infantile cerebellar-retinal degeneration (Orphanet:313850)
Infantile choroido cerebral calcification syndrome (Orphanet:1313)
Infantile convulsions and choreoathetosis (Orphanet:31709)
Infantile hypophosphatasia (Orphanet:247651)
Infantile neuroaxonal dystrophy (Orphanet:35069)
Infantile neuronal ceroid lipofuscinosis (Orphanet:79263)
Infantile onset spinocerebellar ataxia (Orphanet:1186)
Infantile spasms - broad thumbs (Orphanet:3173)
Infantile symmetrical thalamic degeneration (Orphanet:3311)
Inherited congenital spastic tetraplegia (Orphanet:210141)
Intellectual deficiency - hypotonia - spasticity - sleep disorder (Orphanet:356996)
Intellectual deficit - athetosis - microphthalmia (Orphanet:1236)
Intellectual deficit - balding - patella luxation - acromicria (Orphanet:3041)
Intellectual deficit - cataracts - calcified pinnae - myopathy (Orphanet:3042)
Intellectual deficit - dysmorphism - hypogonadism - diabetes mellitus (Orphanet:3044)
Intellectual deficit - hypoplastic corpus callosum - preauricular tag (Orphanet:1495)
Intellectual deficit - sparse hair - brachydactyly (Orphanet:3051)
Intellectual deficit, Wolff type (Orphanet:3080)
Intellectual deficit, X-linked - Dandy-Walker malformation - basal ganglia disease - Seizures (Orphanet:1568)
Intellectual deficit, X-linked - cubitus valgus - dysmorphism (Orphanet:85280)
Intellectual deficit, X-linked - dysmorphism - cerebral atrophy (Orphanet:2958)
Intellectual deficit, X-linked - hypogammaglobulinemia - progressive neurological deterioration (Orphanet:85317)
Intellectual deficit, X-linked - psychosis - macroorchidism (Orphanet:3077)
Intellectual deficit, X-linked - seizures - psoriasis (Orphanet:3052)
Intellectual deficit, X-linked - short stature - obesity (Orphanet:3055)
Intellectual deficit, X-linked, Armfield type (Orphanet:85276)
Intellectual deficit, X-linked, Brooks type (Orphanet:3056)
Intellectual deficit, X-linked, Cantagrel type (Orphanet:85277)
Intellectual deficit, X-linked, Kroes type (Orphanet:163961)
Intellectual deficit, X-linked, Nascimento type (Orphanet:163956)
Intellectual deficit, X-linked, Pai type (Orphanet:85322)
Intellectual deficit, X-linked, Shashi type (Orphanet:85286)
Intellectual deficit, X-linked, Snyder type (Orphanet:3063)
Intellectual deficit, X-linked, Vitale type (Orphanet:85289)
Intellectual deficit, X-linked, Wilson type (Orphanet:85290)
Intellectual deficit, X-linked, Wittwer type (Orphanet:85291)
Intellectual disability-developmental delay-contractures syndrome (Orphanet:3454)
Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome (Orphanet:369837)
Intermittent maple syrup urine disease (Orphanet:268173)
Isolated 3-methylcrotonyl-CoA carboxylase deficiency (Orphanet:6)
Isolated CoQ-cytochrome C reductase deficiency (Orphanet:1460)
Isolated NADH-CoQ reductase deficiency (Orphanet:2609)
Isolated cerebellar hypoplasia/agenesis (Orphanet:1398)
Isolated cytochrome C oxidase deficiency (Orphanet:254905)
Isolated glycerol kinase deficiency (Orphanet:408)
Isolated spina bifida (Orphanet:823)
Isolated succinate-CoQ reductase deficiency (Orphanet:3208)
Isolated sulfite oxidase deficiency (Orphanet:99731)
Isovaleric acidemia (Orphanet:33)
Ito hypomelanosis (Orphanet:435)
JMP syndrome (Orphanet:324999)
Jacobsen syndrome (Orphanet:2308)
Jervell and Lange-Nielsen syndrome (Orphanet:90647)
Joubert syndrome (Orphanet:475)
Joubert syndrome 21 (OMIM:615636)
Joubert syndrome 28 (OMIM:617121)
Joubert syndrome 9 (OMIM:612285)
Joubert syndrome with hepatic defect (Orphanet:1454)
Joubert syndrome with ocular defect (Orphanet:220493)
Joubert syndrome with oculorenal defect (Orphanet:2318)
Joubert syndrome with orofaciodigital defect (Orphanet:2754)
Joubert syndrome with renal defect (Orphanet:220497)
Juberg-Marsidi syndrome (Orphanet:93972)
Juvenile Huntington disease (Orphanet:248111)
Juvenile neuronal ceroid lipofuscinosis (Orphanet:79264)
Juvenile or adult CACH syndrome (Orphanet:157719)
Juvenile parkinsonism with intellectual deficit due to DNAJC6 deficiency (Orphanet:352497)
KABUKI SYNDROME 1 (OMIM:147920)
KABUKI SYNDROME 2 (OMIM:300867)
KAGAMI-OGATA SYNDROME (OMIM:608149)
KETOADIPICACIDURIA (OMIM:245130)
KIFAFA SEIZURE DISORDER (OMIM:245180)
KRABBE DISEASE (OMIM:245200)
Kabuki syndrome (Orphanet:2322)
Kallmann syndrome (Orphanet:478)
Kapur-Toriello syndrome (Orphanet:2328)
Kearns-Sayre syndrome (Orphanet:480)
Kenny-Caffey syndrome (Orphanet:2333)
Keutel syndrome (Orphanet:85202)
Kleefstra syndrome (Orphanet:261494)
Kleefstra syndrome due to 9q34 microdeletion (Orphanet:96147)
Klippel-Trénaunay syndrome (Orphanet:90308)
Knobloch syndrome (Orphanet:1571)
Koolen-De Vries syndrome (Orphanet:96169)
Kostmann syndrome (Orphanet:99749)
Krabbe disease (Orphanet:487)
Kufor-Rakeb syndrome (Orphanet:306674)
L-2-hydroxyglutaric aciduria (Orphanet:79314)
L1 syndrome (Orphanet:275543)
LEOPARD SYNDROME 3 (OMIM:613707)
LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS (OMIM:614561)
LISSENCEPHALY 6 WITH MICROCEPHALY (OMIM:616212)
LUBS X-LINKED MENTAL RETARDATION SYNDROME (OMIM:300260)
LUJAN-FRYNS SYNDROME (OMIM:309520)
Large congenital melanocytic nevus (Orphanet:626)
Lassa fever (Orphanet:99824)
Late infantile CACH syndrome (Orphanet:157716)
Late infantile neuronal ceroid lipofuscinosis (Orphanet:168491)
Lathosterolosis (Orphanet:46059)
Leber congenital amaurosis (Orphanet:65)
Leber congenital amaurosis 10 (OMIM:611755)
Leber plus disease (Orphanet:99718)
Leigh syndrome (Orphanet:506)
Leigh syndrome with nephrotic syndrome (Orphanet:255249)
Lethal ataxia with deafness and optic atrophy (Orphanet:1187)
Lethal polymalformative syndrome, Boissel type (Orphanet:210144)
Leukocyte adhesion deficiency (Orphanet:2968)
Leukocyte adhesion deficiency type II (Orphanet:99843)
Leukoencephalopathy - thalamus and brainstem anomalies - high lactate (Orphanet:314051)
Lhermitte-Duclos disease (Orphanet:65285)
Linear nevus sebaceus syndrome (Orphanet:2612)
Linear verrucous nevus syndrome (Orphanet:2611)
Lipodystrophy - intellectual deficit - deafness (Orphanet:50811)
Lipoid proteinosis (Orphanet:530)
Lissencephaly due to LIS1 mutation (Orphanet:95232)
Lissencephaly due to TUBA1A mutation (Orphanet:171680)
Lissencephaly type 1 due to doublecortin gene mutation (Orphanet:2148)
Long QT syndrome 1 (OMIM:192500)
Long QT syndrome 2 (OMIM:613688)
Long QT syndrome 3 (OMIM:603830)
Lowry-MacLean syndrome (Orphanet:2409)
Lujo hemorrhagic fever (Orphanet:319213)
Lung agenesis - heart defect - thumb anomalies (Orphanet:1120)
Lymphangioleiomyomatosis (Orphanet:538)
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 1 (OMIM:604004)
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A (OMIM:613925)
MEGALENCEPHALY WITH DYSMYELINATION (OMIM:249240)
MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2 (OMIM:615937)
MEGDEL syndrome (Orphanet:352328)
MEHMO syndrome (Orphanet:85282)
MELAS (Orphanet:550)
MENTAL RETARDATION WITH OPTIC ATROPHY, FACIAL DYSMORPHISM, MICROCEPHALY,AND SHORT STATURE (OMIM:609037)
MENTAL RETARDATION, AUTOSOMAL DOMINANT 13 (OMIM:614563)
MENTAL RETARDATION, AUTOSOMAL DOMINANT 15 (OMIM:614608)
MENTAL RETARDATION, AUTOSOMAL DOMINANT 16 (OMIM:614609)
MENTAL RETARDATION, AUTOSOMAL DOMINANT 17 (OMIM:615009)
MENTAL RETARDATION, AUTOSOMAL DOMINANT 29 (OMIM:616078)
MENTAL RETARDATION, AUTOSOMAL DOMINANT 31 (OMIM:616158)
MENTAL RETARDATION, AUTOSOMAL DOMINANT 32 (OMIM:616268)
MENTAL RETARDATION, AUTOSOMAL DOMINANT 5 (OMIM:612621)
MENTAL RETARDATION, AUTOSOMAL DOMINANT 9 (OMIM:614255)
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13 (OMIM:613192)
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15 (OMIM:614202)
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 41 (OMIM:615637)
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42 (OMIM:615802)
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 44 (OMIM:615942)
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 46 (OMIM:616116)
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5 (OMIM:611091)
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 6 (OMIM:611092)
MENTAL RETARDATION, X-LINKED 100 (OMIM:300923)
MENTAL RETARDATION, X-LINKED 101 (OMIM:300928)
MENTAL RETARDATION, X-LINKED 14 (OMIM:300062)
MENTAL RETARDATION, X-LINKED 21 (OMIM:300143)
MENTAL RETARDATION, X-LINKED 30 (OMIM:300558)
MENTAL RETARDATION, X-LINKED 72 (OMIM:300271)
MENTAL RETARDATION, X-LINKED 88 (OMIM:300852)
MENTAL RETARDATION, X-LINKED 9 (OMIM:309549)
MENTAL RETARDATION, X-LINKED 90 (OMIM:300850)
MENTAL RETARDATION, X-LINKED 91 (OMIM:300577)
MENTAL RETARDATION, X-LINKED 96 (OMIM:300802)
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CHUDLEY-SCHWARTZ TYPE (OMIM:300861)
MERRF (Orphanet:551)
METACHROMATIC LEUKODYSTROPHY (OMIM:250100)
METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY (OMIM:249900)
METHIONINE MALABSORPTION SYNDROME (OMIM:250900)
MGAT2-CDG (Orphanet:79329)
MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I (OMIM:210710)
MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICALMALFORMATIONS (OMIM:604317)
MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:608716)
MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2 (OMIM:616171)
MICROCEPHALY, CORPUS CALLOSUM DYSGENESIS, AND CLEFT LIP/PALATE (OMIM:601420)
MICROCEPHALY, GROWTH RETARDATION, CATARACT, HEARING LOSS, AND UNUSUALAPPEARANCE (OMIM:612947)
MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY (OMIM:613668)
MICROPHTHALMIA, SYNDROMIC 1 (OMIM:309800)
MICROPHTHALMIA, SYNDROMIC 7 (OMIM:309801)
MIGRAINE, FAMILIAL HEMIPLEGIC, 1 (OMIM:141500)
MIGRAINE, FAMILIAL HEMIPLEGIC, 2 (OMIM:602481)
MIGRAINE, FAMILIAL HEMIPLEGIC, 3 (OMIM:609634)
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7 (OMIM:615824)
MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) (OMIM:613662)
MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY (OMIM:614741)
MOYAMOYA DISEASE 6 WITH ACHALASIA (OMIM:615750)
MPDU1-CDG (Orphanet:79323)
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 (OMIM:614299)
MUSCULAR DYSTROPHY, ADULT-ONSET, WITH LEUKOENCEPHALOPATHY (OMIM:253590)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 1 (OMIM:236670)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 12 (OMIM:615249)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 13 (OMIM:615287)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 2 (OMIM:613150)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 3 (OMIM:253280)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 4 (OMIM:253800)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),TYPE B, 14 (OMIM:615351)
MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET (OMIM:614399)
Macrocephaly - spastic paraplegia - dysmorphism (Orphanet:2429)
Malignant atrophic papulosis (Orphanet:679)
Malonic aciduria (Orphanet:943)
Mandibulofacial dysostosis-microcephaly syndrome (Orphanet:79113)
Maple syrup urine disease (Orphanet:511)
Marden-Walker syndrome (Orphanet:2461)
Maternal hyperphenylalaninemia (Orphanet:2209)
Maternal hyperthermia induced birth defects (Orphanet:2216)
Maternally-inherited Leigh syndrome (Orphanet:255210)
Maternally-inherited diabetes and deafness (Orphanet:225)
McLeod neuroacanthocytosis syndrome (Orphanet:59306)
Medium chain acyl-CoA dehydrogenase deficiency (Orphanet:42)
Megalencephalic leukoencephalopathy with subcortical cysts (Orphanet:2478)
Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus (Orphanet:83473)
Megalencephaly-capillary malformation-polymicrogyria syndrome (Orphanet:60040)
Megalocornea-intellectual deficit syndrome (Orphanet:2479)
Menkes disease (Orphanet:565)
Metachromatic leukodystrophy (Orphanet:512)
Methylcobalamin deficiency type cblDv1 (Orphanet:308380)
Methylcobalamin deficiency type cblE (Orphanet:2169)
Methylcobalamin deficiency type cblG (Orphanet:2170)
Methylmalonic acidemia with homocystinuria (Orphanet:26)
Methylmalonic acidemia with homocystinuria, type cblC (Orphanet:79282)
Methylmalonic acidemia with homocystinuria, type cblD (Orphanet:79283)
Methylmalonic acidemia with homocystinuria, type cblF (Orphanet:79284)
Mevalonic aciduria (Orphanet:29)
Micrencephaly - corpus callosum agenesis - abnormal genitalia (Orphanet:2508)
Micro syndrome (Orphanet:2510)
Microcephalic osteodysplastic primordial dwarfism type 2 (Orphanet:2637)
Microcephalic osteodysplastic primordial dwarfism types 1 and 3 (Orphanet:2636)
Microcephalic primordial dwarfism, Dauber type (Orphanet:319675)
Microcephaly - intellectual deficit - phalangeal and neurological anomalies (Orphanet:137658)
Microcephaly - lymphedema - chorioretinopathy (Orphanet:2526)
Microcephaly - seizures - developmental delay (Orphanet:228418)
Microcephaly - seizures - intellectual deficit - heart disease (Orphanet:2519)
Microcephaly-capillary malformation syndrome (Orphanet:294016)
Microcephaly-cardiomyopathy syndrome (Orphanet:2515)
Microduplication Xp11.22-p11.23 syndrome (Orphanet:217377)
Microlissencephaly (Orphanet:1083)
Microlissencephaly - micromelia (Orphanet:50810)
Microphthalmia with brain and digit anomalies (Orphanet:139471)
Microphthalmia with linear skin defects syndrome (Orphanet:2556)
Microphthalmia, Lenz type (Orphanet:568)
Miller-Dieker syndrome (Orphanet:531)
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria (Orphanet:1933)
Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy (Orphanet:255235)
Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies (Orphanet:369897)
Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency (Orphanet:279934)
Mitochondrial DNA depletion syndrome, myopathic form (Orphanet:254875)
Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency (Orphanet:1194)
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency (Orphanet:314637)
Mitochondrial myopathy - lactic acidosis - deafness (Orphanet:2597)
Mixed connective tissue disease (Orphanet:809)
Monilethrix (Orphanet:573)
Monosomy 18q (Orphanet:1600)
Monosomy 22q13 (Orphanet:48652)
Monosomy 9p (Orphanet:261112)
Monosomy 9q22.3 (Orphanet:77301)
Mosaic trisomy 14 (Orphanet:1703)
Mosaic variegated aneuploidy syndrome (Orphanet:1052)
Mowat-Wilson syndrome (Orphanet:2152)
Mowat-Wilson syndrome due to a point mutation (Orphanet:261552)
Moyamoya disease (Orphanet:2573)
Moyamoya disease - short stature - facial dysmorphism - hypergonadotropic hypogonadism (Orphanet:280679)
Moynahan syndrome (Orphanet:2574)
Mucopolysaccharidosis type 2 (Orphanet:580)
Mucopolysaccharidosis type 2, severe form (Orphanet:217085)
Mucopolysaccharidosis type 3 (Orphanet:581)
Multiple acyl-CoA dehydrogenase deficiency (Orphanet:26791)
Multiple carboxylase deficiency (Orphanet:148)
Multiple congenital anomalies - hypotonia - seizures syndrome (Orphanet:280633)
Multiple sulfatase deficiency (Orphanet:585)
Muscle-eye-brain disease (Orphanet:588)
Muscular dystrophy - white matter spongiosis (Orphanet:1877)
Mutilating palmoplantar keratoderma with periorificial keratotic plaques (Orphanet:659)
Myhre syndrome (Orphanet:2588)
Myoclonus - cerebellar ataxia - deafness (Orphanet:2589)
Myopathy - growth delay - intellectual deficit - hypospadias (Orphanet:2601)
N-ACETYLASPARTATE DEFICIENCY (OMIM:614063)
NARP syndrome (Orphanet:644)
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A (OMIM:256600)
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B (OMIM:610217)
NIEMANN-PICK DISEASE, TYPE C1 (OMIM:257220)
NIEMANN-PICK DISEASE, TYPE C2 (OMIM:607625)
Nakajo-Nishimura syndrome (Orphanet:2615)
Nasal dermoid cyst (Orphanet:141103)
Nasu-Hakola disease (Orphanet:2770)
Neonatal adrenoleukodystrophy (Orphanet:44)
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome (Orphanet:457185)
Neonatal hemochromatosis (Orphanet:446)
Nephrogenic diabetes insipidus (Orphanet:223)
Nephrogenic syndrome of inappropriate antidiuresis (Orphanet:93606)
Nephronophthisis 15 (OMIM:614845)
Nephronophthisis-like nephropathy 1 (OMIM:613159)
Netherton syndrome (Orphanet:634)
Neurocutaneous melanocytosis (Orphanet:2481)
Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency (Orphanet:88639)
Neurodegenerative syndrome due to cerebral folate transport deficiency (Orphanet:217382)
Neuroectodermal melanolysosomal disease (Orphanet:33445)
Neurofibromatosis type 1 (Orphanet:636)
Neurofibromatosis type 1 due to NF1mutation or intragenic deletion (Orphanet:363700)
Neurologic Waardenburg-Shah syndrome (Orphanet:163746)
Neurological conditions associated with aminoacylase 1 deficiency (Orphanet:137754)
Neuronal ceroid lipofuscinosis (Orphanet:216)
Neuronal intranuclear inclusion disease (Orphanet:2289)
Nevus comedonicus syndrome (Orphanet:64754)
Niemann-Pick disease type C (Orphanet:646)
Nipah virus disease (Orphanet:99825)
Nodular neuronal heterotopia (Orphanet:2149)
Non-polyposis Turcot syndrome (Orphanet:99817)
Norrie disease (Orphanet:649)
OPITZ-KAVEGGIA SYNDROME (OMIM:305450)
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1 (OMIM:259700)
OSTEOSCLEROTIC METAPHYSEAL DYSPLASIA (OMIM:615198)
Oculocerebral hypopigmentation syndrome, Preus type (Orphanet:2720)
Oculocerebrocutaneous syndrome (Orphanet:1647)
Oculocerebrorenal syndrome (Orphanet:534)
Oculodentodigital dysplasia (Orphanet:2710)
Oculofaciocardiodental syndrome (Orphanet:2712)
Oliver syndrome (Orphanet:2920)
Olivopontocerebellar atrophy - deafness (Orphanet:2732)
Ondine syndrome (Orphanet:661)
Ornithine transcarbamylase deficiency (Orphanet:664)
Orofaciodigital syndrome type 1 (Orphanet:2750)
Orofaciodigital syndrome type 2 (Orphanet:2751)
Osteocraniostenosis (Orphanet:2763)
Osteogenesis imperfecta - retinopathy - seizures - intellectual deficit (Orphanet:2773)
Osteopathia striata - cranial sclerosis (Orphanet:2780)
Ovarioleukodystrophy (Orphanet:99853)
PACHYGYRIA, FRONTOTEMPORAL (OMIM:610279)
PARIETAL FORAMINA (OMIM:168500)
PAROXYSMAL NONKINESIGENIC DYSKINESIA 2 (OMIM:611147)
PEHO syndrome (Orphanet:2836)
PEHO-like syndrome (Orphanet:99807)
PELGER-HUET ANOMALY (OMIM:169400)
PELIZAEUS-MERZBACHER DISEASE (OMIM:312080)
PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, AUTOSOMAL RECESSIVE (OMIM:608097)
PERIVENTRICULAR NODULAR HETEROTOPIA 6 (OMIM:615544)
PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER (OMIM:616154)
PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER) (OMIM:614882)
PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER) (OMIM:614883)
PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER) (OMIM:614886)
PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER) (OMIM:614887)
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) (OMIM:214100)
PEROXISOME BIOGENESIS DISORDER 1B (OMIM:601539)
PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER) (OMIM:214110)
PEROXISOME BIOGENESIS DISORDER 2B (OMIM:202370)
PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER) (OMIM:614859)
PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER) (OMIM:614862)
PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) (OMIM:614866)
PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER) (OMIM:614870)
PEROXISOME BIOGENESIS DISORDER 7A (ZELLWEGER) (OMIM:614872)
PEROXISOME BIOGENESIS DISORDER 8A (ZELLWEGER) (OMIM:614876)
PHACE syndrome (Orphanet:42775)
PLANTAR LIPOMATOSIS, UNUSUAL FACIES, AND DEVELOPMENTAL DELAY (OMIM:602342)
PMM2-CDG (Orphanet:79318)
POLYMICROGYRIA, BILATERAL PERISYLVIAN, AUTOSOMAL RECESSIVE (OMIM:615752)
PONTOCEREBELLAR HYPOPLASIA, TYPE 1B (OMIM:614678)
PONTOCEREBELLAR HYPOPLASIA, TYPE 2A (OMIM:277470)
PONTOCEREBELLAR HYPOPLASIA, TYPE 2B (OMIM:612389)
PONTOCEREBELLAR HYPOPLASIA, TYPE 2D (OMIM:613811)
PONTOCEREBELLAR HYPOPLASIA, TYPE 2E (OMIM:615851)
PORENCEPHALY 1 (OMIM:175780)
PORENCEPHALY 2 (OMIM:614483)
PREECLAMPSIA/ECLAMPSIA 1 (OMIM:189800)
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,AUTOSOMAL DOMINANT, 3 (OMIM:609286)
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,AUTOSOMAL DOMINANT, 4 (OMIM:610131)
PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM (OMIM:614501)
Pachygyria - epilepsy - intellectual deficit - dysmorphism (Orphanet:94084)
Pachygyria - intellectual deficit - epilepsy (Orphanet:2798)
Pallister-Hall syndrome (Orphanet:672)
Pancreatic hypoplasia - diabetes - congenital heart disease (Orphanet:2255)
Pantothenate kinase-associated neurodegeneration (Orphanet:157850)
Papilloma of choroid plexus (Orphanet:2807)
Parietal foramina (Orphanet:60015)
Parkinsonim due to ATP13A2 deficiency (Orphanet:314632)
Paroxysmal kinesigenic dyskinesia (Orphanet:98809)
Partial acquired lipodystrophy (Orphanet:79087)
Partington syndrome (Orphanet:94083)
Pediatric systemic lupus erythematosus (Orphanet:93552)
Pediatric systemic sclerosis (Orphanet:93567)
Pelizaeus-Merzbacher disease (Orphanet:702)
Pelizaeus-Merzbacher-like disease (Orphanet:280270)
Pelizaeus-Merzbacher-like due to AIMP1 mutation (Orphanet:280293)
Pelizaeus-Merzbacher-like due to GJC2 mutation (Orphanet:280282)
Pelizaeus-Merzbacher-like due to HSPD1 mutation (Orphanet:280288)
Perinatal lethal hypophosphatasia (Orphanet:247623)
Perlman syndrome (Orphanet:2849)
Permanent neonatal diabetes mellitus (Orphanet:99885)
Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis (Orphanet:65288)
Peroxisomal acyl-CoA oxidase deficiency (Orphanet:2971)
Perrault Syndrome 1 (OMIM:233400)
Perrault Syndrome 3 (OMIM:614129)
Perrault Syndrome 5 (OMIM:616138)
Peters-plus syndrome (Orphanet:709)
Pfeiffer syndrome type 2 (Orphanet:93259)
Pfeiffer syndrome type 3 (Orphanet:93260)
Phakomatosis pigmentovascularis (Orphanet:2875)
Phenylketonuria (Orphanet:716)
Phosphoenolpyruvate carboxykinase 1 deficiency (Orphanet:79316)
Phosphoserine aminotransferase deficiency (Orphanet:284417)
Pitt-Hopkins syndrome (Orphanet:2896)
Pituitary stalk interruption syndrome (Orphanet:95496)
Polyarteritis nodosa (Orphanet:767)
Polyarteritis nodosa, childhood-onset (OMIM:615688)
Polymicrogyria due to TUBB2B mutation (Orphanet:300573)
Polymicrogyria with optic nerve hypoplasia (Orphanet:250972)
Pontine tegmental cap dysplasia (Orphanet:269229)
Pontocerebellar hypoplasia type 1 (Orphanet:2254)
Pontocerebellar hypoplasia type 2 (Orphanet:2524)
Pontocerebellar hypoplasia type 3 (Orphanet:97249)
Pontocerebellar hypoplasia type 4 (Orphanet:166063)
Pontocerebellar hypoplasia type 5 (Orphanet:166068)
Pontocerebellar hypoplasia type 6 (Orphanet:166073)
Pontocerebellar hypoplasia type 7 (Orphanet:284339)
Pontocerebellar hypoplasia, type 9 (OMIM:615809)
Porencephaly (Orphanet:2940)
Porencephaly-microcephaly-bilateral congenital cataract syndrome (Orphanet:306547)
Porphyria (Orphanet:738)
Port-wine nevi - mega cisterna magna - hydrocephalus (Orphanet:2703)
Potocki-Shaffer syndrome (Orphanet:52022)
Prader-Willi syndrome (Orphanet:739)
Preeclampsia (Orphanet:275555)
Premature chromosome condensation with microcephaly and intellectual deficit (Orphanet:52183)
Primary cutis verticis gyrata (Orphanet:671)
Primary intestinal lymphangiectasia (Orphanet:90362)
Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome (Orphanet:306558)
Progressive epilepsy-intellectual deficit, Finnish type (Orphanet:1947)
Progressive hemifacial atrophy (Orphanet:1214)
Progressive myoclonic epilepsy type 6 (Orphanet:280620)
Prominent glabella - microcephaly - hypogenitalism (Orphanet:2083)
Propionic acidemia (Orphanet:35)
Proteasome disability syndrome (Orphanet:324977)
Proteus syndrome (Orphanet:744)
Proteus-like syndrome (Orphanet:2969)
Proximal 16p11.2 microdeletion syndrome (Orphanet:261197)
Pseudohypoparathyroidism type 1A (Orphanet:79443)
Pseudohypoparathyroidism type 1C (Orphanet:79444)
Pseudoleprechaunism syndrome, Patterson type (Orphanet:2976)
Pseudoprogeria syndrome (Orphanet:2985)
Pyridoxal phosphate-responsive seizures (Orphanet:79096)
Pyridoxine-dependent epilepsy (Orphanet:3006)
Pyruvate carboxylase deficiency (Orphanet:3008)
Pyruvate dehydrogenase E1-alpha deficiency (Orphanet:79243)
Pyruvate dehydrogenase E3 deficiency (Orphanet:2394)
Pyruvate dehydrogenase E3-binding protein deficiency (Orphanet:255182)
Pyruvate dehydrogenase deficiency (Orphanet:765)
Pyruvate dehydrogenase lipoic acid synthetase deficiency (OMIM:614462)
Pyruvate dehydrogenase phosphatase deficiency (Orphanet:79246)
Qazi-Markouizos syndrome (Orphanet:3010)
RETINAL DEGENERATION AND EPILEPSY (OMIM:267740)
RETT SYNDROME, CONGENITAL VARIANT (OMIM:613454)
RFT1-CDG (Orphanet:244310)
Rabies (Orphanet:770)
Ramon syndrome (Orphanet:3019)
Reading seizures (Orphanet:166433)
Recessive mitochondrial ataxia syndrome (Orphanet:94125)
Recombinant 8 syndrome (Orphanet:96167)
Renal coloboma syndrome (Orphanet:1475)
Renal tubulopathy - encephalopathy - liver failure (Orphanet:254902)
Renier-Gabreels-Jasper syndrome (Orphanet:93975)
Renpenning syndrome (Orphanet:3242)
Retinal vasculopathy and cerebral leukodystrophy (Orphanet:247691)
Rett syndrome (Orphanet:778)
Rhizomelic chondrodysplasia punctata (Orphanet:177)
Rhizomelic chondrodysplasia punctata type 1 (Orphanet:309789)
Riboflavin transporter deficiency (Orphanet:97229)
Ribose 5-phosphate isomerase deficiency (OMIM:608611)
Rift valley fever (Orphanet:319251)
Ring chromosome 10 (Orphanet:1438)
Rolandic epilepsy - speech dyspraxia (Orphanet:163721)
Romano-Ward syndrome (Orphanet:101016)
Rubinstein-Taybi syndrome (Orphanet:783)
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion (Orphanet:353281)
Rubinstein-Taybi syndrome due to CREBBP mutations (Orphanet:353277)
Ruvalcaba syndrome (Orphanet:3121)
SC PHOCOMELIA SYNDROME (OMIM:269000)
SCHAAF-YANG SYNDROME (OMIM:615547)
SECKEL SYNDROME 1 (OMIM:210600)
SEIZURES, BENIGN FAMILIAL NEONATAL, 1 (OMIM:121200)
SEIZURES, BENIGN FAMILIAL NEONATAL, 2 (OMIM:121201)
SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS,AND DEVELOPMENTAL DELAY (OMIM:616084)
SKELETAL DYSPLASIA AND PROGRESSIVE CENTRAL NERVOUS SYSTEM DEGENERATION,LETHAL (OMIM:602613)
SLC35A2-CDG (Orphanet:356961)
SOTOS SYNDROME 1 (OMIM:117550)
SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE (OMIM:614066)
SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE (OMIM:613744)
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15 (OMIM:615705)
STEVENSON-CAREY SYNDROME (OMIM:611961)
STT3A-CDG (Orphanet:370921)
STT3B-CDG (Orphanet:370924)
SYSTEMIC LUPUS ERYTHEMATOSUS (OMIM:152700)
Saethre-Chotzen syndrome (Orphanet:794)
Salla disease (Orphanet:309334)
Sandhoff disease (Orphanet:796)
Sanfilippo syndrome type A (Orphanet:79269)
Sanfilippo syndrome type B (Orphanet:79270)
Sanfilippo syndrome type C (Orphanet:79271)
Sanfilippo syndrome type D (Orphanet:79272)
Sanjad-Sakati syndrome (Orphanet:2323)
Schinzel-Giedion syndrome (Orphanet:798)
Schizencephaly (Orphanet:799)
Scleroderma (Orphanet:801)
Scrub typhus (Orphanet:83317)
Seckel syndrome (Orphanet:808)
Seizures - intellectual deficit due to hydroxylysinuria (Orphanet:79156)
Senior-Loken syndrome 7 (OMIM:613615)
Sensory ataxic neuropathy-dysarthria-ophthalmoparesis (Orphanet:70595)
Septo-optic dysplasia (Orphanet:3157)
Severe Canavan disease (Orphanet:314911)
Severe X-linked intellectual deficit, Gustavson type (Orphanet:3078)
Severe X-linked mitochondrial encephalomyopathy (Orphanet:238329)
Severe achondroplasia - developmental delay - acanthosis nigricans (Orphanet:85165)
Severe combined immunodeficiency due to adenosine deaminase deficiency (Orphanet:277)
Severe intellectual deficit - epilepsy - anal anomalies - distal phalangeal hypoplasia (Orphanet:94066)
Severe intellectual deficit and progressive spastic paraplegia (Orphanet:280763)
Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome (Orphanet:369939)
Severe neonatal-onset encephalopathy with microcephaly (Orphanet:209370)
Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency (Orphanet:35123)
Short chain acyl-CoA dehydrogenase deficiency (Orphanet:26792)
Short stature - craniofacial anomalies - genital hypoplasia (Orphanet:2994)
Short stature - heart defect - craniofacial anomalies (Orphanet:1088)
Sialidosis type 1 (Orphanet:812)
Sialidosis type 2 (Orphanet:87876)
Sialuria (Orphanet:3166)
Simpson-Golabi-Behmel syndrome (Orphanet:373)
Sjögren-Larsson syndrome (Orphanet:816)
Skeletal dysplasia - epilepsy - short stature (Orphanet:1858)
Smith-Fineman-Myers syndrome (Orphanet:93974)
Smith-Lemli-Opitz syndrome (Orphanet:818)
Smith-Magenis syndrome (Orphanet:819)
Sneddon syndrome (Orphanet:820)
Solitary median maxillary central incisor syndrome (Orphanet:2286)
Sotos syndrome (Orphanet:821)
Spastic ataxia with congenital miosis (Orphanet:1182)
Spastic paraplegia - epilepsy - intellectual deficit (Orphanet:2816)
Spastic paraplegia type 2 (Orphanet:99015)
Spasticity - intellectual deficit - X-linked epilepsy (Orphanet:3175)
Spinocerebellar ataxia type 10 (Orphanet:98761)
Spinocerebellar ataxia type 17 (Orphanet:98759)
Spinocerebellar ataxia with epilepsy (Orphanet:254881)
Splenogonadal fusion - limb defects - micrognathia (Orphanet:2063)
Spondyloepimetaphyseal dysplasia, Bieganski type (Orphanet:168448)
Spontaneous periodic hypothermia (Orphanet:29822)
Sporadic Leigh syndrome (Orphanet:255199)
Sturge-Weber syndrome (Orphanet:3205)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A (Orphanet:308386)
Symptomatic form of Coffin-Lowry syndrome in female carriers (Orphanet:276630)
Syndactyly - telecanthus - anogenital and renal malformations (Orphanet:140952)
Syndromic X-linked ichthyosis (Orphanet:281090)
Syndromic X-linked intellectual deficit due to JARID1C mutation (Orphanet:85279)
Syndromic microphthalmia type 5 (Orphanet:178364)
Systemic capillary leak syndrome (Orphanet:188)
Systemic sclerosis (Orphanet:90291)
TATTON-BROWN-RAHMAN SYNDROME (OMIM:615879)
TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER (OMIM:187300)
TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2 (OMIM:600376)
TEMPLE-BARAITSER SYNDROME (OMIM:611816)
TENORIO SYNDROME (OMIM:616260)
THREONINEMIA (OMIM:273770)
THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE (OMIM:612304)
TMEM165-CDG (Orphanet:314667)
TUBEROUS SCLEROSIS 1 (OMIM:191100)
TUBEROUS SCLEROSIS 2 (OMIM:613254)
Takayasu arteritis (Orphanet:3287)
Tay-Sachs disease (Orphanet:845)
Temtamy syndrome (Orphanet:1777)
Tetrasomy 12p (Orphanet:884)
Tetrasomy 18p (Orphanet:3307)
Thanatophoric dysplasia (Orphanet:2655)
Thanatophoric dysplasia type 1 (Orphanet:1860)
Thanatophoric dysplasia type 2 (Orphanet:93274)
Thiamine-responsive encephalopathy (Orphanet:199348)
Thiamine-responsive maple syrup urine disease (Orphanet:268184)
Thiamine-responsive megaloblastic anemia syndrome (Orphanet:49827)
Thoracic dysplasia-hydrocephalus syndrome (Orphanet:1861)
Thrombocytopenia - absent radius (Orphanet:3320)
Thyrocerebrorenal syndrome (Orphanet:3327)
Timothy syndrome (Orphanet:65283)
Toriello-Carey syndrome (Orphanet:3338)
Toriello-Lacassie-Droste syndrome (Orphanet:3339)
Trigonocephaly - short stature - developmental delay (Orphanet:3369)
Triple A syndrome (Orphanet:869)
Trisomy 13 (Orphanet:3378)
Trisomy X (Orphanet:3375)
Tuberous sclerosis (Orphanet:805)
Typical hemolytic uremic syndrome (Orphanet:90038)
Tyrosinemia type 2 (Orphanet:28378)
Tyrosinemia type 3 (Orphanet:69723)
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH ORWITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY (OMIM:604772)
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 2 (OMIM:611938)
VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE (OMIM:219730)
VISCERAL STEATOSIS, CONGENITAL (OMIM:228100)
Vici syndrome (Orphanet:1493)
Viral hemorrhagic fever (Orphanet:341)
Vitamin B12-responsive methylmalonic acidemia (Orphanet:28)
Vitamin B12-responsive methylmalonic acidemia type cblA (Orphanet:79310)
Vitamin B12-responsive methylmalonic acidemia, type cblDv2 (Orphanet:308442)
Vitamin B12-unresponsive methylmalonic acidemia (Orphanet:27)
Vitamin B12-unresponsive methylmalonic acidemia type mut- (Orphanet:79312)
W syndrome (Orphanet:2804)
WARBURG MICRO SYNDROME 3 (OMIM:614222)
WARBURG MICRO SYNDROME 4 (OMIM:615663)
WEBB-DATTANI SYNDROME (OMIM:615926)
Walker-Warburg syndrome (Orphanet:899)
Weaver syndrome (Orphanet:3447)
Weaver-Williams syndrome (Orphanet:3448)
West syndrome (Orphanet:3451)
Whipple disease (Orphanet:3452)
Wiedemann-Steiner syndrome (Orphanet:319182)
Wilson-Turner syndrome (Orphanet:3459)
Wolcott-Rallison syndrome (Orphanet:1667)
Wolf-Hirschhorn syndrome (Orphanet:280)
Wolfram syndrome (Orphanet:3463)
Wolfram syndrome 1 (OMIM:222300)
Wolfram syndrome, mitochondrial form (OMIM:598500)
Worster-Drought syndrome (Orphanet:3465)
Wrinkly skin syndrome (Orphanet:2834)
Wyburn-Mason syndrome (Orphanet:53719)
X-linked centronuclear myopathy (Orphanet:596)
X-linked cerebral adrenoleukodystrophy (Orphanet:139396)
X-linked complicated corpus callosum dysgenesis (Orphanet:1497)
X-linked creatine transporter deficiency (Orphanet:52503)
X-linked distal arthrogryposis multiplex congenita (Orphanet:1145)
X-linked epilepsy - learning disabilities - behavior disorders (Orphanet:85294)
X-linked intellectual deficit - ataxia - apraxia (Orphanet:85338)
X-linked intellectual deficit - cerebellar hypoplasia (Orphanet:137831)
X-linked intellectual deficit - epilepsy (Orphanet:2076)
X-linked intellectual deficit - hypotonic face (Orphanet:73220)
X-linked intellectual deficit with marfanoid habitus (Orphanet:776)
X-linked intellectual deficit, Golabi-Ito-Hall type (Orphanet:93947)
X-linked intellectual deficit, Najm type (Orphanet:163937)
X-linked intellectual disability due to GRIA3 anomalies (Orphanet:364028)
X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome (Orphanet:324410)
X-linked lissencephaly with abnormal genitalia (Orphanet:452)
X-linked neurodegenerative syndrome, Bertini type (Orphanet:85334)
X-linked neurodegenerative syndrome, Hamel type (Orphanet:85336)
X-linked reticulate pigmentary disorder with systemic manifestations (Orphanet:85453)
X-linked spinocerebellar ataxia type 3 (Orphanet:85297)
XYLOSIDASE DEFICIENCY (OMIM:278900)
Xeroderma pigmentosum (Orphanet:910)
Zellweger syndrome (Orphanet:912)
Zimmermann-Laband syndrome (Orphanet:3473)
Zlotogora-Ogur syndrome (Orphanet:3253)
Zunich-Kaye syndrome (Orphanet:3474)
[DEL] COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23 (OMIM:616198)
[DEL] GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL (OMIM:261740)