Seizures
Symptom Information:
Symptom ID: | HPO:0001250 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Synonyms: |
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Cross references: |
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Is a (Direct Parents): |
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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) |
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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) |