Muscular hypotonia

Symptom Information:

Symptom ID: HPO:0001252
Synonyms:
Muscle hypotonia [HPO:0001252]
Muscle weakness [Orphanet:44150]
Poor muscle tone (finding) [Orphanet:43330]
Decreased muscle tone (finding) [Orphanet:43330]
Muscle weakness (finding) [Orphanet:44150]
Hypotonia [HPO:0001252]
Muscle hypotonia [Orphanet:43330]
Muscle Weakness [Orphanet:44150]
Muscle hypotonia [OMIM:Muscle hypotonia]
Muscular hypotonia [OMIM:Muscular hypotonia]
Hypotonia [Orphanet:43330]
Muscle weakness/flaccidity [Orphanet:44150]
Muscular weakness [Orphanet:44150]
Hypotonia [MedDRA:10021118]
Abdominal flaccidity [MedDRA:10021118]
Atonia [MedDRA:10021118]
Atony skeletal muscle [MedDRA:10021118]
Decreased muscle tone [MedDRA:10021118]
Flaccidity [MedDRA:10021118]
Flaccidity muscle [MedDRA:10021118]
Floppy [MedDRA:10021118]
M relaxation [MedDRA:10021118]
Muscle flaccid [MedDRA:10021118]
Muscle relaxation [MedDRA:10021118]
Muscle tone decreased [MedDRA:10021118]
Muscle tone flaccid [MedDRA:10021118]
Non-depolarising relaxant [MedDRA:10021118]
Skeletal muscle atony [MedDRA:10021118]
Muscular weakness [MedDRA:10028372]
Hands weakness of [MedDRA:10028372]
Lower extremities weakness of [MedDRA:10028372]
Muscle weakness [MedDRA:10028372]
Muscle weakness NOS [MedDRA:10028372]
Myasthenia [MedDRA:10028372]
Weakness muscle [MedDRA:10028372]
Weakness of limbs [MedDRA:10028372]
Weakness voluntary muscle [MedDRA:10028372]
Muscle weakness aggravated [MedDRA:10028372]
Asthenia legs [MedDRA:10028372]
Weakness of arms [MedDRA:10028372]
Localised muscle weakness [MedDRA:10028372]
Localized muscle weakness [MedDRA:10028372]
Generalised muscle weakness [MedDRA:10028372]
Generalized muscle weakness [MedDRA:10028372]
Neuromuscular weakness [MedDRA:10028372]
Weakness in extremity [MedDRA:10028372]
Muscle weakness lower limb [MedDRA:10028372]
Muscle weakness trunk [MedDRA:10028372]
Muscle weakness upper limb [MedDRA:10028372]
Descending muscle weakness [MedDRA:10028372]
Flaccidity [OMIM:Flaccidity]
Generalized muscle weakness (less common) [OMIM:Generalized muscle weakness (less common)]
Hypotonia [OMIM:Hypotonia]
Hypotonia (1 patient) [OMIM:Hypotonia (1 patient)]
Hypotonia (2 patients) [OMIM:Hypotonia (2 patients)]
Hypotonia (45%) [OMIM:Hypotonia (45%)]
Hypotonia (96%) [OMIM:Hypotonia (96%)]
Hypotonia (CVS+) [OMIM:Hypotonia (CVS+)]
Hypotonia (HCS and 2p21del) [OMIM:Hypotonia (HCS and 2p21del)]
Hypotonia (congenital form) [OMIM:Hypotonia (congenital form)]
Hypotonia (early infancy) [OMIM:Hypotonia (early infancy)]
Hypotonia (early-onset form) [OMIM:Hypotonia (early-onset form)]
Hypotonia (in 1/4 patients) [OMIM:Hypotonia (in 1/4 patients)]
Hypotonia (in infancy) [OMIM:Hypotonia (in infancy)]
Hypotonia (in males) [OMIM:Hypotonia (in males)]
Hypotonia (in some patients) [OMIM:Hypotonia (in some patients)]
Hypotonia (less common) [OMIM:Hypotonia (less common)]
Hypotonia (mild) [OMIM:Hypotonia (mild)]
Hypotonia (neonatal) [OMIM:Hypotonia (neonatal)]
Hypotonia (newborn) [OMIM:Hypotonia (newborn)]
Hypotonia (rare) [OMIM:Hypotonia (rare)]
Hypotonia (type I and type II, infantile) [OMIM:Hypotonia (type I and type II, infantile)]
Hypotonia (untreated hypothyroidism) [OMIM:Hypotonia (untreated hypothyroidism)]
Lower limb muscle weakness (in 2 of 3 families) [OMIM:Lower limb muscle weakness (in 2 of 3 families)]
Lower limb muscle weakness (occurs later) [OMIM:Lower limb muscle weakness (occurs later)]
Muscle weakness (1 patient) [OMIM:Muscle weakness (1 patient)]
Muscle weakness (CVS+) [OMIM:Muscle weakness (CVS+)]
Muscle weakness (in 90% of patients) [OMIM:Muscle weakness (in 90% of patients)]
Muscle weakness (in some patients) [OMIM:Muscle weakness (in some patients)]
Muscle weakness (increases with age) [OMIM:Muscle weakness (increases with age)]
Muscle weakness (type I) [OMIM:Muscle weakness (type I)]
Muscle weakness, lower limbs [OMIM:Muscle weakness, lower limbs]
No muscle weakness [OMIM:No muscle weakness]
Trunk muscle weakness [OMIM:Trunk muscle weakness]
Quality:
Cross references:
HPO:0001324 "Muscle weakness" [Orphanet:43330]
HPO:0001324 "Muscle weakness" [Orphanet:44150]
Orphanet:43330 "Hypotonia" [Orphanet:43330]
Orphanet:44150 "Muscle weakness/flaccidity" [Orphanet:44150]
OMIM: "Muscle hypotonia" [OMIM:Muscle hypotonia]
OMIM: "Muscular hypotonia" [OMIM:Muscular hypotonia]
OMIM: "Flaccidity" [OMIM:Flaccidity]
OMIM: "Generalized muscle weakness (less common)" [OMIM:Generalized muscle weakness (less common)]
OMIM: "Hypotonia" [OMIM:Hypotonia]
OMIM: "Hypotonia (1 patient)" [OMIM:Hypotonia (1 patient)]
OMIM: "Hypotonia (2 patients)" [OMIM:Hypotonia (2 patients)]
OMIM: "Hypotonia (45%)" [OMIM:Hypotonia (45%)]
OMIM: "Hypotonia (96%)" [OMIM:Hypotonia (96%)]
OMIM: "Hypotonia (CVS+)" [OMIM:Hypotonia (CVS+)]
OMIM: "Hypotonia (HCS and 2p21del)" [OMIM:Hypotonia (HCS and 2p21del)]
OMIM: "Hypotonia (congenital form)" [OMIM:Hypotonia (congenital form)]
OMIM: "Hypotonia (early infancy)" [OMIM:Hypotonia (early infancy)]
OMIM: "Hypotonia (early-onset form)" [OMIM:Hypotonia (early-onset form)]
OMIM: "Hypotonia (in 1/4 patients)" [OMIM:Hypotonia (in 1/4 patients)]
OMIM: "Hypotonia (in infancy)" [OMIM:Hypotonia (in infancy)]
OMIM: "Hypotonia (in males)" [OMIM:Hypotonia (in males)]
OMIM: "Hypotonia (in some patients)" [OMIM:Hypotonia (in some patients)]
OMIM: "Hypotonia (less common)" [OMIM:Hypotonia (less common)]
OMIM: "Hypotonia (mild)" [OMIM:Hypotonia (mild)]
OMIM: "Hypotonia (neonatal)" [OMIM:Hypotonia (neonatal)]
OMIM: "Hypotonia (newborn)" [OMIM:Hypotonia (newborn)]
OMIM: "Hypotonia (rare)" [OMIM:Hypotonia (rare)]
OMIM: "Hypotonia (type I and type II, infantile)" [OMIM:Hypotonia (type I and type II, infantile)]
OMIM: "Hypotonia (untreated hypothyroidism)" [OMIM:Hypotonia (untreated hypothyroidism)]
OMIM: "Lower limb muscle weakness (in 2 of 3 families)" [OMIM:Lower limb muscle weakness (in 2 of 3 families)]
OMIM: "Lower limb muscle weakness (occurs later)" [OMIM:Lower limb muscle weakness (occurs later)]
OMIM: "Muscle weakness (1 patient)" [OMIM:Muscle weakness (1 patient)]
OMIM: "Muscle weakness (CVS+)" [OMIM:Muscle weakness (CVS+)]
OMIM: "Muscle weakness (in 90% of patients)" [OMIM:Muscle weakness (in 90% of patients)]
OMIM: "Muscle weakness (in some patients)" [OMIM:Muscle weakness (in some patients)]
OMIM: "Muscle weakness (increases with age)" [OMIM:Muscle weakness (increases with age)]
OMIM: "Muscle weakness (type I)" [OMIM:Muscle weakness (type I)]
OMIM: "Muscle weakness, lower limbs" [OMIM:Muscle weakness, lower limbs]
OMIM: "No muscle weakness" [OMIM:No muscle weakness]
OMIM: "Trunk muscle weakness" [OMIM:Trunk muscle weakness]
UMLS:C0026827 "Hypotonia" [HPO:0001252]
UMLS:C0026827 "Muscle hypotonia" [Orphanet:43330]
UMLS:C0151786 "Muscle Weakness" [Orphanet:44150]
Is a (Direct Parents):
MedDRA Muscle weakness conditions
HPO         Oral motor hypotonia
Orphanet [DEL]Motor deficit/trouble
HPO         Abnormal muscle tone
MedDRA Muscle tone abnormalities
Orphanet Muscle anomalies
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of the musculature(HPO:0003011)
          Abnormality of muscle physiology(HPO:0011804)
             Abnormal muscle tone(HPO:0003808)
                Muscular hypotonia(HPO:0001252)
MedDRA:
Musculoskeletal and connective tissue disorders(MedDRA:10028395)
    Muscle disorders(MedDRA:10028302)
       Muscle tone abnormalities(MedDRA:10028343)
          Muscular hypotonia(HPO:0001252)
       Muscle weakness conditions(MedDRA:10062913)
          Muscular hypotonia(HPO:0001252)
Database Frequency: 990 / 7739
Resource:

All diseases associated with this symptom:

12q14 microdeletion syndrome (Orphanet:94063)
14q12 microdeletion syndrome (Orphanet:261144)
14q22q23 microdeletion syndrome (Orphanet:264200)
15q11q13 microduplication syndrome (Orphanet:238446)
15q13.3 microdeletion syndrome (Orphanet:199318)
15q24 microdeletion syndrome (Orphanet:94065)
16p11.2p12.2 microdeletion syndrome (Orphanet:261211)
17p11.2 microduplication syndrome (Orphanet:1713)
17p13.3 microduplication syndrome (Orphanet:217385)
17q11 microdeletion syndrome (Orphanet:97685)
17q11.2 microduplication syndrome (Orphanet:139474)
17q21.31 microduplication syndrome (Orphanet:217340)
17q23.1q23.2 microdeletion syndrome (Orphanet:261279)
19p13.12 microdeletion syndrome (Orphanet:254346)
1p36 deletion syndrome (Orphanet:1606)
1q21.1 microdeletion syndrome (Orphanet:250989)
1q21.1 microduplication syndrome (Orphanet:250994)
1q44 microdeletion syndrome (Orphanet:238769)
2,4-@DIENOYL-CoA REDUCTASE DEFICIENCY (OMIM:616034)
2-aminoadipic 2-oxoadipic aciduria (Orphanet:79154)
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)
2p15p16.1 microdeletion syndrome (Orphanet:261349)
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-@HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:231530)
3-@METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY (OMIM:210200)
3-@METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY (OMIM:210210)
3-@METHYLGLUTACONIC ACIDURIA WITH CATARACTS, NEUROLOGIC INVOLVEMENT,AND NEUTROPENIA (OMIM:616271)
3-methylglutaconic aciduria type 4 (Orphanet:67048)
3C syndrome (Orphanet:7)
3q13 microdeletion syndrome (Orphanet:1621)
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)
6p22 microdeletion syndrome (Orphanet:251046)
6q16 deletion syndrome (Orphanet:171829)
6q25 microdeletion syndrome (Orphanet:251056)
8q12 microduplication syndrome (Orphanet:228399)
8q21.11 microdeletion syndrome (Orphanet:284160)
ACETYL-CoA ACETYLTRANSFERASE-2 DEFICIENCY (OMIM:614055)
ACETYL-CoA CARBOXYLASE DEFICIENCY (OMIM:613933)
ADAMS-OLIVER SYNDROME 1 (OMIM:100300)
ADAMS-OLIVER SYNDROME 2 (OMIM:614219)
AGENESIS OF THE CORPUS CALLOSUM AND CONGENITAL LYMPHEDEMA (OMIM:613623)
AICA-ribosiduria (Orphanet:250977)
AICARDI-GOUTIERES SYNDROME 3 (OMIM:610329)
ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME (OMIM:615510)
ALDH18A1-related De Barsy syndrome (Orphanet:35664)
ALG1-CDG (Orphanet:79327)
ALG12-CDG (Orphanet:79324)
ALG13-CDG (Orphanet:324422)
ALG3-CDG (Orphanet:79321)
ALG6-CDG (Orphanet:79320)
ALG9-CDG (Orphanet:79328)
APNEA, CENTRAL SLEEP (OMIM:207720)
ARIMA SYNDROME (OMIM:243910)
ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2 (OMIM:613404)
ATAXIA-MICROCEPHALY-CATARACT SYNDROME (OMIM:208870)
ATONIC-ASTATIC SYNDROME OF FOERSTER (OMIM:209100)
ATP-BINDING CASSETTE, SUBFAMILY D, MEMBER 3 (OMIM:170995)
AXENFELD-RIEGER ANOMALY WITH PARTIALLY ABSENT EYE MUSCLES, DISTINCTIVEFACE, HYDROCEPHALY, AND SKELETAL ABNORMALITIES (OMIM:109120)
Abetalipoproteinemia (Orphanet:14)
Achondroplasia (Orphanet:15)
Acid phosphatase deficiency (Orphanet:35121)
Acro-cardio-facial syndrome (Orphanet:2008)
Acrocallosal syndrome (Orphanet:36)
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins (Orphanet:217371)
Acute infantile liver failure-multisystemic involvement syndrome (Orphanet:370088)
Acyl-CoA dehydrogenase 9 deficiency (Orphanet:99901)
Adams-Oliver syndrome (Orphanet:974)
Adducted thumbs - arthrogryposis, Christian type (Orphanet:2952)
Adenylosuccinate lyase deficiency (Orphanet:46)
Adrenomyodystrophy (Orphanet:977)
Adult polyglucosan body disease (Orphanet:206583)
Aicardi syndrome (Orphanet:50)
Alexander disease (Orphanet:58)
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-crystallinopathy (Orphanet:98910)
Alpha-mannosidosis (Orphanet:61)
Alpha-thalassemia - X-linked intellectual deficit syndrome (Orphanet:847)
Alpha-thalassemia - intellectual deficit syndrome linked to chromosome 16 (Orphanet:98791)
Alport syndrome - intellectual deficit - midface hypoplasia - elliptocytosis (Orphanet:86818)
Amish infantile epilepsy syndrome (Orphanet:171714)
Amish lethal microcephaly (Orphanet:99742)
Angelman syndrome (Orphanet:72)
Aniridia - absent patella (Orphanet:1069)
Aniridia - cerebellar ataxia - intellectual deficit (Orphanet:1065)
Aniridia - renal agenesis - psychomotor retardation (Orphanet:1064)
Anophthalmia/microphthalmia - esophageal atresia (Orphanet:77298)
Antenatal multiminicore disease with arthrogryposis multiplex congenita (Orphanet:178148)
Antisynthetase syndrome (Orphanet:81)
Aortic arch anomaly - peculiar facies - intellectual deficit (Orphanet:1110)
Arnold-Chiari malformation type II (Orphanet:1136)
Arterial tortuosity syndrome (Orphanet:3342)
Arthrogryposis - renal dysfunction - cholestasis (Orphanet:2697)
Arthrogryposis due to muscular dystrophy (Orphanet:1155)
Arthrogryposis multiplex congenita - whistling face (Orphanet:1150)
Aspartylglucosaminuria (Orphanet:93)
Ataxia - tapetoretinal degeneration (Orphanet:1178)
Ataxia-deafness-retardation syndrome (Orphanet:1188)
Athyreosis (Orphanet:95713)
Atypical Rett syndrome (Orphanet:3095)
Atypical hypotonia - cystinuria syndrome (Orphanet:238523)
Autism spectrum disorder-epilepsy-arthrogryposis syndrome (Orphanet:370943)
Autosomal dominant Opitz G/BBB syndrome (Orphanet:306588)
Autosomal dominant congenital benign spinal muscular atrophy (Orphanet:1216)
Autosomal dominant spastic paraplegia type 42 (Orphanet:171863)
Autosomal recessive ataxia due to ubiquinone deficiency (Orphanet:139485)
Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome (Orphanet:363429)
Autosomal recessive cerebelloparenchymal disorder type 3 (Orphanet:1170)
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 infantile hypercalcemia (Orphanet:300547)
Autosomal recessive limb-girdle muscular dystrophy type 2M (Orphanet:206554)
Autosomal recessive limb-girdle muscular dystrophy type 2S (Orphanet:369840)
Autosomal recessive limb-girdle muscular dystrophy type 2T (Orphanet:363623)
Autosomal recessive spastic paraplegia type 30 (Orphanet:101010)
Autosomal recessive spastic paraplegia type 49 (Orphanet:320385)
B4GALT1-CDG (Orphanet:79332)
BARAITSER-WINTER SYNDROME 1 (OMIM:243310)
BARTTER SYNDROME, TYPE 4A (OMIM:602522)
BARTTER SYNDROME, TYPE 4B (OMIM:613090)
BILIARY MALFORMATION WITH RENAL TUBULAR INSUFFICIENCY (OMIM:210550)
BROWN-VIALETTO-VAN LAERE SYNDROME 2 (OMIM:614707)
Bannayan-Riley-Ruvalcaba syndrome (Orphanet:109)
Baraitser-Winter syndrome (Orphanet:2995)
Beemer-Ertbruggen syndrome (Orphanet:1237)
Benign familial infantile seizures (Orphanet:306)
Beta-mannosidosis (Orphanet:118)
Biotinidase deficiency (Orphanet:79241)
Blepharophimosis - radioulnar synostosis (Orphanet:1256)
Blepharophimosis-intellectual deficit syndrome due to UBE3B deficiency (Orphanet:329255)
Blepharophimosis-intellectual deficit syndrome, Ohdo type (Orphanet:2728)
Blepharophimosis-intellectual deficit syndrome, SBBYS type (Orphanet:3047)
Blepharophimosis-intellectual deficit syndrome, Verloes type (Orphanet:293725)
Bohring-Opitz syndrome (Orphanet:97297)
Bone dysplasia, lethal Holmgren type (Orphanet:1842)
Borjeson-Forssman-Lehmann syndrome (Orphanet:127)
Brain malformation - congenital heart disease - postaxial polydactyly (Orphanet:75389)
Brain-lung-thyroid syndrome (Orphanet:209905)
C syndrome (Orphanet:1308)
CACH syndrome (Orphanet:135)
CAMPOMELIC DYSPLASIA (OMIM:114290)
CAMPTODACTYLY SYNDROME, GUADALAJARA, TYPE III (OMIM:611929)
CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASEDEFICIENCY 1 (OMIM:604377)
CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASEDEFICIENCY 2 (OMIM:615119)
CARDIOFACIOCUTANEOUS SYNDROME 1 (OMIM:115150)
CARDIOFACIOCUTANEOUS SYNDROME 3 (OMIM:615279)
CARDIOFACIOCUTANEOUS SYNDROME 4 (OMIM:615280)
CATARACT, ATAXIA, SHORT STATURE, AND MENTAL RETARDATION (OMIM:300619)
CEDNIK syndrome (Orphanet:66631)
CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME1 (OMIM:224050)
CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 2 (OMIM:612900)
CEREBROOCULOFACIOSKELETAL SYNDROME 1 (OMIM:214150)
CHARGE syndrome (Orphanet:138)
CHROMOSOMAL INSTABILITY WITH TISSUE-SPECIFIC RADIOSENSITIVITY (OMIM:215510)
CHROMOSOME 15q11.2 DELETION SYNDROME (OMIM:615656)
CHROMOSOME 16q22 DELETION SYNDROME (OMIM:614541)
CHROMOSOME 17p13.1 DELETION SYNDROME (OMIM:613776)
CHROMOSOME 1p32-p31 DELETION SYNDROME (OMIM:613735)
CHROMOSOME 5q12 DELETION SYNDROME (OMIM:615668)
CHROMOSOME 6q11-q14 DELETION SYNDROMECHROMOSOME 6q13-q14 DELETION SYNDROME, INCLUDED (OMIM:613544)
CHROMOSOME Xp22 DELETION SYNDROME (OMIM:300830)
CK syndrome (Orphanet:251383)
CLN1 disease (Orphanet:228329)
CODAS syndrome (Orphanet:1458)
COENZYME Q10 DEFICIENCY, PRIMARY, 7 (OMIM:616276)
COFS syndrome (Orphanet:1466)
COG1-CDG (Orphanet:263508)
COG4-CDG (Orphanet:263501)
COG5-CDG (Orphanet:263487)
COG7-CDG (Orphanet:79333)
COG8-CDG (Orphanet:95428)
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 18 (OMIM:615578)
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20 (OMIM:615917)
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22 (OMIM:616045)
CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTALDELAY (OMIM:616266)
CONGENITAL DISORDER OF DEGLYCOSYLATION (OMIM:615273)
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iy (OMIM:300934)
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5 (OMIM:615763)
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB (OMIM:614437)
CYCLIC VOMITING SYNDROME (OMIM:500007)
Cabezas syndrome (Orphanet:85293)
Campomelic dysplasia (Orphanet:140)
Canavan disease (Orphanet:141)
Carbamoylphosphate synthetase deficiency (Orphanet:147)
Cardiofaciocutaneous syndrome (Orphanet:1340)
Cardiomyopathy-hypotonia-lactic acidosis syndrome (Orphanet:91130)
Carey-Fineman-Ziter syndrome (Orphanet:1358)
Carnitine palmitoyl transferase 1A deficiency (Orphanet:156)
Carnitine uptake deficiency (Orphanet:158)
Carnitine-acylcarnitine translocase deficiency (Orphanet:159)
Cartilage-hair hypoplasia (Orphanet:175)
Cat-eye syndrome (Orphanet:195)
Cataract-congenital heart disease-neural tube defect syndrome (Orphanet:314993)
Central congenital hypothyroidism (Orphanet:226298)
Central core disease (Orphanet:597)
Central nervous system calcification - deafness - tubular acidosis - anemia (Orphanet:3240)
Centronuclear myopathy (Orphanet:595)
Cerebellar ataxia - hypogonadism (Orphanet:1173)
Cerebellar ataxia, Cayman type (Orphanet:94122)
Cerebellar hypoplasia - tapetoretinal degeneration (Orphanet:2246)
Cerebellum agenesis - hydrocephaly (Orphanet:1397)
Cerebro-facio-articular syndrome (Orphanet:314679)
Cerebro-facio-thoracic dysplasia (Orphanet:1394)
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency (Orphanet:293955)
Choreoacanthocytosis (Orphanet:2388)
Christianson syndrome (Orphanet:85278)
Classic maple syrup urine disease (Orphanet:268145)
Classic multiminicore myopathy (Orphanet:324604)
Cleft palate - large ears - small head (Orphanet:2013)
Cleft palate - short stature - vertebral anomalies (Orphanet:2015)
Cobblestone lissencephaly without muscular or ocular involvement (Orphanet:352682)
Coffin-Lowry syndrome (Orphanet:192)
Coffin-Siris syndrome (Orphanet:1465)
Cohen syndrome (Orphanet:193)
Cole-Carpenter syndrome (Orphanet:2050)
Combined immunodeficiency due to CRAC channel dysfunction (Orphanet:169090)
Combined immunodeficiency due to ORAI1 deficiency (Orphanet:317428)
Combined immunodeficiency due to STIM1 deficiency (Orphanet:317430)
Combined oxidative phosphorylation defect type 11 (Orphanet:324535)
Combined oxidative phosphorylation defect type 13 (Orphanet:319514)
Combined oxidative phosphorylation defect type 14 (Orphanet:319519)
Combined oxidative phosphorylation defect type 15 (Orphanet:319524)
Combined oxidative phosphorylation defect type 17 (Orphanet:369913)
Combined oxidative phosphorylation defect type 2 (Orphanet:254920)
Combined oxidative phosphorylation defect type 7 (Orphanet:254930)
Combined oxidative phosphorylation deficiency type 23 (ORPHA:444013)
Congenital brain dysgenesis due to glutamine synthetase deficiency (Orphanet:71278)
Congenital cataract-hearing loss-severe developmental delay syndrome (Orphanet:300313)
Congenital fiber-type disproportion myopathy (Orphanet:2020)
Congenital hypothyroidism (Orphanet:442)
Congenital hypothyroidism due to developmental anomaly (Orphanet:95711)
Congenital hypothyroidism due to transplacental passage of maternal TSH-binding inhibitory antibodies (Orphanet:95715)
Congenital lactic acidosis, Saguenay-Lac-St. Jean type (Orphanet:70472)
Congenital muscular dystrophy - infantile cataract - hypogonadism (Orphanet:1875)
Congenital muscular dystrophy due to LMNA mutation (Orphanet:157973)
Congenital muscular dystrophy type 1A (Orphanet:258)
Congenital myopathy with internal nuclei and atypical cores (Orphanet:319160)
Congenital or early infantile CACH syndrome (Orphanet:157713)
Congenital rubella syndrome (Orphanet:290)
Congenital toxoplasmosis (Orphanet:858)
Constitutional megaloblastic anemia with severe neurologic disease (Orphanet:319651)
Cooper-Jabs syndrome (Orphanet:1488)
Cornelia de Lange syndrome (Orphanet:199)
Costello syndrome (Orphanet:3071)
Craniofacial dyssynostosis (Orphanet:1516)
Craniofrontonasal dysplasia (Orphanet:1520)
Cree leukoencephalopathy (Orphanet:99854)
Crigler-Najjar syndrome (Orphanet:205)
Cryptorchidism - arachnodactyly - intellectual deficit (Orphanet:1548)
Cushing syndrome (Orphanet:553)
Cutis laxa (Orphanet:209)
Cyprus facial-neuromusculoskeletal syndrome (Orphanet:2674)
Cystinosis (Orphanet:213)
Cystinuria (Orphanet:214)
Cystinuria type B (Orphanet:93613)
D-2-@HYDROXYGLUTARIC ACIDURIA 1 (OMIM:600721)
D-2-@HYDROXYGLUTARIC ACIDURIA 2 (OMIM:613657)
D-2-hydroxyglutaric aciduria (Orphanet:79315)
DDOST-CDG (Orphanet:300536)
DEND syndrome (Orphanet:79134)
DESBUQUOIS DYSPLASIA 1 (OMIM:251450)
DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
DK1-CDG (Orphanet:91131)
DPAGT1-CDG (Orphanet:86309)
DPM1-CDG (Orphanet:79322)
DPM3-CDG (Orphanet:263494)
DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT (OMIM:128100)
De Barsy syndrome (Orphanet:2962)
Dehydratase deficiency (Orphanet:1578)
Dejerine-Sottas syndrome (Orphanet:64748)
Dent disease type 2 (Orphanet:93623)
Dermatomyositis (Orphanet:221)
Desbuquois syndrome (Orphanet:1425)
Desmin-related myopathy with Mallory body-like inclusions (Orphanet:84132)
Developmental delay with autism spectrum disorder and gait instability (Orphanet:329195)
Diaphanospondylodysostosis (Orphanet:66637)
Diastrophic dwarfism (Orphanet:628)
Dihydropteridine reductase deficiency (Orphanet:226)
Dihydropyrimidine dehydrogenase deficiency (Orphanet:1675)
Distal 22q11.2 microduplication syndrome (Orphanet:261337)
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 monosomy 9p (Orphanet:1642)
Distal trisomy 15q (Orphanet:1707)
Down syndrome (Orphanet:870)
Duane anomaly - myopathy - scoliosis (Orphanet:50817)
Dubowitz syndrome (Orphanet:235)
Duchenne muscular dystrophy (Orphanet:98896)
Dysequilibrium syndrome (Orphanet:1766)
Dysmorphism - cleft palate - loose skin (Orphanet:1779)
Dysmorphism - multiple structural anomalies (Orphanet:1780)
Dysmorphism - short stature - deafness - disorder of sex development (Orphanet:2282)
EAST syndrome (Orphanet:199343)
EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1 (OMIM:601776)
EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 1 (OMIM:130070)
EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2 (OMIM:615349)
ENCEPHALOMYOPATHY, MITOCHONDRIAL, DUE TO VOLTAGE-DEPENDENT ANION CHANNELDEFICIENCY (OMIM:614520)
ENCEPHALOPATHY, RECURRENT, OF CHILDHOOD (OMIM:130950)
EPILEPSY, HOT WATER, 1 (OMIM:613339)
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13 (OMIM:614558)
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14 (OMIM:614959)
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 15 (OMIM:615006)
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 (OMIM:300672)
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26 (OMIM:616056)
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27 (OMIM:616139)
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29 (OMIM:616339)
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4 (OMIM:612164)
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5 (OMIM:613477)
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7 (OMIM:613720)
Early infantile epileptic encephalopathy without suppression burst (Orphanet:369894)
Early-onset generalized limb-onset dystonia (Orphanet:256)
Ectodermal dysplasia - intellectual deficit - central nervous system malformation (Orphanet:1812)
Ehlers-Danlos syndrome due to tenascin-X deficiency (Orphanet:230839)
Ehlers-Danlos syndrome type 7A (Orphanet:99875)
Ehlers-Danlos syndrome type 7B (Orphanet:99876)
Ehlers-Danlos syndrome, arthrochalasic type (Orphanet:1899)
Ehlers-Danlos syndrome, classic type (Orphanet:287)
Ehlers-Danlos syndrome, dermatosparaxis type (Orphanet:1901)
Ehlers-Danlos syndrome, kyphoscoliotic and deafness type (Orphanet:300179)
Ehlers-Danlos syndrome, kyphoscoliotic type (Orphanet:1900)
Ehlers-Danlos syndrome, musculocontractural type (Orphanet:2953)
Ehlers-Danlos syndrome, progeroid type (Orphanet:75496)
Emanuel syndrome (Orphanet:96170)
Embryofetopathy due to oral anticoagulant therapy (Orphanet:1914)
Emery-Dreifuss muscular dystrophy (Orphanet:261)
Emery-Nelson syndrome (Orphanet:1927)
Encephalopathy due to beta-mercaptolactate-cysteine disulfiduria (Orphanet:1035)
Encephalopathy due to prosaposin deficiency (Orphanet:139406)
Encephalopathy, axonal, with necrotizing myopathy, cardiomyopathy,and cataracts (OMIM:225740)
Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome (Orphanet:319678)
Epimetaphyseal skeletal dysplasia (Orphanet:1819)
Ermine phenotype (Orphanet:999)
Ethylmalonic encephalopathy (Orphanet:51188)
FACIAL DYSMORPHISM WITH MULTIPLE MALFORMATIONS (OMIM:227255)
FANCONI RENOTUBULAR SYNDROME 2 (OMIM:613388)
Facial dysmorphism - macrocephaly - myopia - Dandy-Walker malformation (Orphanet:1970)
Familial benign copper deficiency (Orphanet:1551)
Familial dysautonomia (Orphanet:1764)
Familial hemophagocytic lymphohistiocytosis (Orphanet:540)
Familial lambdoid synostosis (Orphanet:3267)
Familial thyroid dyshormonogenesis (Orphanet:95716)
Fanconi renotubular syndrome 1 (OMIM:134600)
Fatal infantile cytochrome C oxidase deficiency (Orphanet:1561)
Fatal infantile lactic acidosis with methylmalonic aciduria (Orphanet:17)
Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3 (Orphanet:168566)
Fetal Gaucher disease (Orphanet:85212)
Fetal akinesia-cerebral and retinal hemorrhage syndrome (Orphanet:363409)
Fetal methylmercury syndrome (Orphanet:1917)
Fine-Lubinsky syndrome (Orphanet:1272)
Fragile X syndrome (Orphanet:908)
Free sialic acid storage disease (Orphanet:834)
Free sialic acid storage disease, infantile form (Orphanet:309324)
Fried syndrome (Orphanet:85335)
Fructose-1,6-bisphosphatase deficiency (Orphanet:348)
Fryns-Smeets-Thiry syndrome (Orphanet:2058)
Fucosidosis (Orphanet:349)
Fumaric aciduria (Orphanet:24)
GCS1-CDG (Orphanet:79330)
GLYCOGEN STORAGE DISEASE IXc (OMIM:613027)
GM1 gangliosidosis (Orphanet:354)
GM2-gangliosidosis, AB variant (Orphanet:309246)
GRACILE syndrome (Orphanet:53693)
Galactose epimerase deficiency (Orphanet:79238)
Galactosemia (Orphanet:352)
Galloway-Mowat syndrome (Orphanet:2065)
Gaucher disease (Orphanet:355)
Genitopatellar syndrome (Orphanet:85201)
German syndrome (Orphanet:2077)
Geroderma osteodysplastica (Orphanet:2078)
Glutaryl-CoA dehydrogenase deficiency (Orphanet:25)
Glycine encephalopathy (Orphanet:407)
Glycogen storage disease due to acid maltase deficiency (Orphanet:365)
Glycogen storage disease due to acid maltase deficiency, infantile onset (Orphanet:308552)
Glycogen storage disease due to glucose-6-phosphatase deficiency (Orphanet:364)
Glycogen storage disease due to glycogen branching enzyme deficiency (Orphanet:367)
Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form (Orphanet:308712)
Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form (Orphanet:308684)
Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form (Orphanet:308698)
Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form (Orphanet:308670)
Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form (Orphanet:308655)
Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form (Orphanet:308638)
Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form (Orphanet:308621)
Glycogen storage disease due to glycogen debranching enzyme deficiency (Orphanet:366)
Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency (Orphanet:79240)
Glycogen storage disease due to phosphorylase kinase deficiency (Orphanet:370)
Goldberg-Shprintzen megacolon syndrome (Orphanet:66629)
Goldenhar syndrome (Orphanet:374)
Grant syndrome (Orphanet:2097)
Griscelli disease (Orphanet:381)
Griscelli disease type 1 (Orphanet:79476)
Grubben-de Cock-Borghgraef syndrome (Orphanet:2101)
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)
HOLOPROSENCEPHALY 2 (OMIM:157170)
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)
Haddad syndrome (Orphanet:99803)
Hartnup syndrome (Orphanet:2116)
Hawkinsinuria (Orphanet:2118)
Hennekam-Beemer syndrome (Orphanet:2135)
Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1 (Orphanet:137681)
Hereditary folate malabsorption (Orphanet:90045)
Hereditary hypophosphatemic rickets with hypercalciuria (Orphanet:157215)
Hereditary myopathy with lactic acidosis due to ISCU deficiency (Orphanet:43115)
Hereditary sensory and autonomic neuropathy type 2 (Orphanet:970)
Holocarboxylase synthetase deficiency (Orphanet:79242)
Holoprosencephaly (Orphanet:2162)
Holoprosencephaly - craniosynostosis (Orphanet:2163)
Holoprosencephaly - postaxial polydactyly (Orphanet:2166)
Homocystinuria without methylmalonic aciduria (Orphanet:622)
Hot water reflex epilepsy (Orphanet:166412)
Hurler syndrome (Orphanet:93473)
Hyperinsulinism due to 3-hydroxylacyl-CoA dehydrogenase deficiency (Orphanet:71212)
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)
Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome (Orphanet:363694)
Hypocalcemic vitamin D-dependent rickets (Orphanet:289157)
Hypocalcemic vitamin D-resistant rickets (Orphanet:93160)
Hypomyelination neuropathy - arthrogryposis (Orphanet:2680)
Hypophosphatasia (Orphanet:436)
Hypospadias - intellectual deficit, Goldblatt type (Orphanet:2261)
Hypothyroidism due to TSH receptor mutations (Orphanet:90673)
Hypothyroidism due to deficient transcription factors involved in pituitary development or function (Orphanet:226307)
Hypotonia - cystinuria syndrome (Orphanet:163690)
Hypotonia - failure to thrive - microcephaly (Orphanet:79507)
Hypotonia with lactic acidemia and hyperammonemia (Orphanet:137908)
IMAGe syndrome (Orphanet:85173)
IMMUNODEFICIENCY 23 (OMIM:615816)
INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUTFRONTOTEMPORAL DEMENTIA 1 (OMIM:167320)
Ichthyosis follicularis - alopecia - photophobia (Orphanet:2273)
Idiopathic congenital hypothyroidism (Orphanet:95717)
Incontinentia pigmenti (Orphanet:464)
Infant botulism (Orphanet:178478)
Infantile Bartter syndrome with deafness (Orphanet:89938)
Infantile Refsum disease (Orphanet:772)
Infantile axonal neuropathy (Orphanet:2679)
Infantile cerebellar-retinal degeneration (Orphanet:313850)
Infantile hypophosphatasia (Orphanet:247651)
Infantile neuroaxonal dystrophy (Orphanet:35069)
Infantile onset spinocerebellar ataxia (Orphanet:1186)
Infantile-onset autosomal recessive nonprogressive cerebellar ataxia (Orphanet:284332)
Intellectual deficiency - hypotonia - spasticity - sleep disorder (Orphanet:356996)
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 - hypotonia - skin hyperpigmentation (Orphanet:3050)
Intellectual deficit, Birk-Barel type (Orphanet:166108)
Intellectual deficit, X-linked - Dandy-Walker malformation - basal ganglia disease - Seizures (Orphanet:1568)
Intellectual deficit, X-linked - dysmorphism - cerebral atrophy (Orphanet:2958)
Intellectual deficit, X-linked - seizures - psoriasis (Orphanet:3052)
Intellectual deficit, X-linked, Cantagrel type (Orphanet:85277)
Intellectual deficit, X-linked, Kroes type (Orphanet:163961)
Intellectual deficit, X-linked, Snyder type (Orphanet:3063)
Intellectual deficit, X-linked, Stevenson type (Orphanet:85325)
Intellectual disability-developmental delay-contractures syndrome (Orphanet:3454)
Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome (Orphanet:363611)
Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome (Orphanet:369837)
Intellectual disability-strabismus syndrome (Orphanet:363528)
Intermittent maple syrup urine disease (Orphanet:268173)
Intestinal botulism (Orphanet:178481)
Isobutyryl-CoA dehydrogenase deficiency (Orphanet:79159)
Isolated 3-methylcrotonyl-CoA carboxylase deficiency (Orphanet:6)
Isolated ATP synthase deficiency (Orphanet:254913)
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 sulfite oxidase deficiency (Orphanet:99731)
Isolated thyroid-stimulating hormone deficiency (Orphanet:90674)
Isotretinoin syndrome (Orphanet:2305)
Ito hypomelanosis (Orphanet:435)
Johanson-Blizzard syndrome (Orphanet:2315)
Joubert syndrome (Orphanet:475)
Joubert syndrome 1 (OMIM:213300)
Joubert syndrome 14 (OMIM:614424)
Joubert syndrome 15 (OMIM:614464)
Joubert syndrome 2 (OMIM:608091)
Joubert syndrome 21 (OMIM:615636)
Joubert syndrome 3 (OMIM:608629)
Joubert syndrome 5 (OMIM:610188)
Joubert syndrome 6 (OMIM:610688)
Joubert syndrome 8 (OMIM:612291)
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)
Jung-Wolff-Back-Stahl syndrome (Orphanet:2321)
Juvenile dermatomyositis (Orphanet:93672)
Juvenile or adult CACH syndrome (Orphanet:157719)
KABUKI SYNDROME 1 (OMIM:147920)
KABUKI SYNDROME 2 (OMIM:300867)
KAGAMI-OGATA SYNDROME (OMIM:608149)
KETOADIPICACIDURIA (OMIM:245130)
Kabuki syndrome (Orphanet:2322)
Kaler-Garrity-Stern syndrome (Orphanet:2324)
Kallmann syndrome (Orphanet:478)
Kearns-Sayre syndrome (Orphanet:480)
Kennedy disease (Orphanet:481)
Kleefstra syndrome (Orphanet:261494)
Kleefstra syndrome due to 9q34 microdeletion (Orphanet:96147)
Koolen-De Vries syndrome (Orphanet:96169)
Krabbe disease (Orphanet:487)
Kyphomelic dysplasia (Orphanet:1801)
L-2-hydroxyglutaric aciduria (Orphanet:79314)
LESCH-NYHAN SYNDROME (OMIM:300322)
LETHAL CONGENITAL CONTRACTURE SYNDROME 7 (OMIM:616286)
LETHAL CONGENITAL CONTRACTURE SYNDROME 8 (OMIM:616287)
LEUKOENCEPHALOPATHY, ARTHRITIS, COLITIS, AND HYPOGAMMAGLOBULINEMA (OMIM:608809)
Lambert syndrome (Orphanet:1296)
Langer-Giedion syndrome (Orphanet:502)
Larsen-like osseous dysplasia - short stature (Orphanet:2370)
Laryngeal abductor paralysis - intellectual deficit (Orphanet:2375)
Late infantile CACH syndrome (Orphanet:157716)
Lateral meningocele syndrome (Orphanet:2789)
Lathosterolosis (Orphanet:46059)
Laurin-Sandrow syndrome (Orphanet:2378)
Leber congenital amaurosis (Orphanet:65)
Leber plus disease (Orphanet:99718)
Legius syndrome (Orphanet:137605)
Leigh syndrome (Orphanet:506)
Leigh syndrome with leukodystrophy (Orphanet:255241)
Lenz-Majewski hyperostotic dwarfism (Orphanet:2658)
Lesch-Nyhan syndrome (Orphanet:510)
Lethal Kniest-like dysplasia (Orphanet:2347)
Lethal Larsen-like syndrome (Orphanet:2371)
Lethal ataxia with deafness and optic atrophy (Orphanet:1187)
Lethal encephalopathy due to mitochondrial and peroxisomal fission defect (Orphanet:330050)
Lethal hemolytic anemia - genital anomalies (Orphanet:1046)
Lethal recessive chondrodysplasia (Orphanet:1423)
Leukocyte adhesion deficiency (Orphanet:2968)
Leukocyte adhesion deficiency type II (Orphanet:99843)
Linear nevus sebaceus syndrome (Orphanet:2612)
Lissencephaly due to TUBA1A mutation (Orphanet:171680)
Lissencephaly type 1 due to doublecortin gene mutation (Orphanet:2148)
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (Orphanet:5)
Low birth weight - dwarfism - dysgammaglobulinemia (Orphanet:2621)
Lysinuric protein intolerance (Orphanet:470)
MACS syndrome (Orphanet:217335)
MEDNIK syndrome (Orphanet:171851)
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING,WITH OR WITHOUT MENTAL RETARDATION (OMIM:613926)
MEGDEL syndrome (Orphanet:352328)
MEHMO syndrome (Orphanet:85282)
MELAS (Orphanet:550)
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 (OMIM:614562)
MENTAL RETARDATION, AUTOSOMAL DOMINANT 13 (OMIM:614563)
MENTAL RETARDATION, AUTOSOMAL DOMINANT 16 (OMIM:614609)
MENTAL RETARDATION, AUTOSOMAL DOMINANT 19 (OMIM:615075)
MENTAL RETARDATION, AUTOSOMAL DOMINANT 31 (OMIM:616158)
MENTAL RETARDATION, AUTOSOMAL DOMINANT 32 (OMIM:616268)
MENTAL RETARDATION, AUTOSOMAL DOMINANT 5 (OMIM:612621)
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 27 (OMIM:614340)
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 41 (OMIM:615637)
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 46 (OMIM:616116)
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 47 (OMIM:616193)
MENTAL RETARDATION, X-LINKED 19 (OMIM:300844)
MENTAL RETARDATION, X-LINKED 90 (OMIM:300850)
MENTAL RETARDATION, X-LINKED 93 (OMIM:300659)
MENTAL RETARDATION, X-LINKED 99 (OMIM:300919)
MERRF (Orphanet:551)
METACHROMATIC LEUKODYSTROPHY (OMIM:250100)
METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY (OMIM:249900)
MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE III (OMIM:210730)
MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLARATROPHY (OMIM:615760)
MICROPHTHALMIA, SYNDROMIC 1 (OMIM:309800)
MICROPHTHALMIA, SYNDROMIC 9 (OMIM:601186)
MIDFACE HYPOPLASIA, OBESITY, DEVELOPMENTAL DELAY, AND NEONATAL HYPOTONIA (OMIM:608624)
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4 (OMIM:615159)
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8 (OMIM:615838)
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 9 (OMIM:616111)
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1 (OMIM:604273)
MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE) (OMIM:615418)
MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) (OMIM:613662)
MITOCHONDRIAL MYOPATHY (OMIM:251900)
MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY (OMIM:614741)
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY (OMIM:616277)
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2 (OMIM:614114)
MPDU1-CDG (Orphanet:79323)
MPI-CDG (Orphanet:79319)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 4 (OMIM:253800)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 7 (OMIM:614643)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 8 (OMIM:614830)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),TYPE B, 14 (OMIM:615351)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),TYPE B, 2 (OMIM:613156)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),TYPE B, 6 (OMIM:608840)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION),TYPE B, 4 (OMIM:613152)
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINERECEPTOR DEFICIENCY (OMIM:616326)
MYASTHENIC SYNDROME, CONGENITAL, 13 (OMIM:614750)
MYASTHENIC SYNDROME, CONGENITAL, 14 (OMIM:616228)
MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL (OMIM:608930)
MYASTHENIC SYNDROME, CONGENITAL, 2A, SLOW-CHANNEL (OMIM:616313)
MYASTHENIC SYNDROME, CONGENITAL, 2C, ASSOCIATED WITH ACETYLCHOLINERECEPTOR DEFICIENCY (OMIM:616314)
MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL (OMIM:616321)
MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL (OMIM:616322)
MYASTHENIC SYNDROME, CONGENITAL, 3C, ASSOCIATED WITH ACETYLCHOLINERECEPTOR DEFICIENCY (OMIM:616323)
MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL (OMIM:616324)
MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINERECEPTOR DEFICIENCY (OMIM:608931)
MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINERECEPTOR DEFICIENCY (OMIM:616325)
MYOPATHY WITH GIANT ABNORMAL MITOCHONDRIA (OMIM:255140)
MYOTONIA CONGENITA, AUTOSOMAL DOMINANT (OMIM:160800)
Malignant hyperthermia - arthrogryposis - torticollis (Orphanet:2215)
Malonic aciduria (Orphanet:943)
Mandibuloacral dysplasia (Orphanet:2457)
Mandibuloacral dysplasia with type A lipodystrophy (Orphanet:90153)
Maple syrup urine disease (Orphanet:511)
Marden-Walker syndrome (Orphanet:2461)
Marfan syndrome (Orphanet:558)
Marfanoid habitus - intellectual deficit, autosomal recessive (Orphanet:2463)
Marinesco-Sjögren syndrome (Orphanet:559)
Marshall-Smith syndrome (Orphanet:561)
Maternal hyperthermia induced birth defects (Orphanet:2216)
Maternally-inherited diabetes and deafness (Orphanet:225)
Matthew-Wood syndrome (Orphanet:2470)
Medium chain acyl-CoA dehydrogenase deficiency (Orphanet:42)
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)
Methylmalonic acidemia with homocystinuria, type cblJ (Orphanet:369955)
Methylmalonic acidemia with homocystinuria, type cblX (Orphanet:369962)
Methylmalonic acidemia without homocystinuria (Orphanet:293355)
Mevalonic aciduria (Orphanet:29)
Micro syndrome (Orphanet:2510)
Microbrachycephaly - ptosis - cleft lip (Orphanet:2511)
Microcephalic primordial dwarfism, Toriello type (Orphanet:2643)
Microcephaly - cardiac defect - lung malsegmentation (Orphanet:2516)
Microcephaly - facio-cardio-skeletal syndrome, Hadziselimovic type (Orphanet:217026)
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-cerebellar hypoplasia-cardiac conduction defect syndrome (Orphanet:329332)
Microlissencephaly - micromelia (Orphanet:50810)
Microphthalmia with brain and digit anomalies (Orphanet:139471)
Mitochondrial DNA deletion syndrome with progressive myopathy (Orphanet:352470)
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)
Mitochondrial myopathy and sideroblastic anemia (Orphanet:2598)
Mitochondrial myopathy with reversible cytochrome C oxidase deficiency (Orphanet:254864)
Mitochondrial trifunctional protein deficiency (Orphanet:746)
Moebius syndrome (Orphanet:570)
Monosomy 13q14 (Orphanet:1587)
Monosomy 18p (Orphanet:1598)
Monosomy 18q (Orphanet:1600)
Monosomy 22q13 (Orphanet:48652)
Monosomy 5p (Orphanet:281)
Monosomy 9p (Orphanet:261112)
Monosomy 9q22.3 (Orphanet:77301)
Mosaic trisomy 15 (Orphanet:1706)
Mosaic variegated aneuploidy syndrome (Orphanet:1052)
Mowat-Wilson syndrome (Orphanet:2152)
Mucolipidosis type 4 (Orphanet:578)
Mucopolysaccharidosis type 7 (Orphanet:584)
Mulibrey nanism (Orphanet:2576)
Mullerian derivatives - lymphangiectasia - polydactyly (Orphanet:1655)
Multiple acyl-CoA dehydrogenase deficiency (Orphanet:26791)
Multiple carboxylase deficiency (Orphanet:148)
Multiple congenital anomalies - hypotonia - seizures syndrome (Orphanet:280633)
Multiple congenital anomalies-hypotonia-seizures syndrome type 2 (Orphanet:300496)
Multiple endocrine neoplasia type 2 (Orphanet:653)
Multiple endocrine neoplasia type 2B (Orphanet:247709)
Multiple sulfatase deficiency (Orphanet:585)
Muscle-eye-brain disease (Orphanet:588)
Muscular dystrophy - white matter spongiosis (Orphanet:1877)
Myoclonus-dystonia syndrome (Orphanet:36899)
Myopathy and diabetes mellitus (Orphanet:2596)
Myopathy due to myoadenylate deaminase deficiency (OMIM:615511)
Myopathy, lactic acidosis, and sideroblastic anemia 1; MLASA1 (OMIM:600462)
NEMALINE MYOPATHY 4 (OMIM:609285)
NEMALINE MYOPATHY 6 (OMIM:609273)
NEMALINE MYOPATHY 7 (OMIM:610687)
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A (OMIM:256600)
NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET (OMIM:616263)
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB (OMIM:607641)
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA (OMIM:201300)
NIEMANN-PICK DISEASE, TYPE C1 (OMIM:257220)
NIEMANN-PICK DISEASE, TYPE C2 (OMIM:607625)
NOONAN SYNDROME 7 (OMIM:613706)
Navajo neurohepatopathy (Orphanet:255229)
Neonatal adrenoleukodystrophy (Orphanet:44)
Neonatal severe primary hyperparathyroidism (Orphanet:417)
Neuhauser-Eichner-Opitz syndrome (Orphanet:2672)
Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency (Orphanet:88639)
Neuroectodermal melanolysosomal disease (Orphanet:33445)
Neurofaciodigitorenal syndrome (Orphanet:2673)
Neurologic Waardenburg-Shah syndrome (Orphanet:163746)
Neurological conditions associated with aminoacylase 1 deficiency (Orphanet:137754)
Neuronal ceroid lipofuscinosis (Orphanet:216)
Neutral lipid storage myopathy (Orphanet:98908)
Niemann-Pick disease type A (Orphanet:77292)
Non-distal monosomy 10q (Orphanet:1581)
Non-polyposis Turcot syndrome (Orphanet:99817)
Non-rhizomelic chondrodysplasia punctata (Orphanet:176)
Noonan syndrome (Orphanet:648)
Noonan syndrome with multiple lentigines (Orphanet:500)
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia (Orphanet:363972)
Norrie disease (Orphanet:649)
OROFACIODIGITAL SYNDROME VI (OMIM:277170)
OSTEOGENESIS IMPERFECTA, TYPE XIII (OMIM:614856)
OSTEOSCLEROTIC METAPHYSEAL DYSPLASIA (OMIM:615198)
Occipital horn syndrome (Orphanet:198)
Oculo-reno-cerebellar syndrome (Orphanet:2715)
Oculocerebrofacial syndrome, Kaufman type (Orphanet:2707)
Oculocerebrorenal syndrome (Orphanet:534)
Okamoto syndrome (Orphanet:2729)
Omphalocele syndrome, Shprintzen-Goldberg type (Orphanet:3164)
Ondine syndrome (Orphanet:661)
Opitz G/BBB syndrome (Orphanet:2745)
Opsismodysplasia (Orphanet:2746)
Ornithine transcarbamylase deficiency (Orphanet:664)
Orofaciodigital syndrome type 3 (Orphanet:2752)
Osteocraniostenosis (Orphanet:2763)
Osteopathia striata - cranial sclerosis (Orphanet:2780)
Osteoporosis - pseudoglioma (Orphanet:2788)
Ovarioleukodystrophy (Orphanet:99853)
Oxoglutaricaciduria (Orphanet:31)
PECTUS EXCAVATUM, MACROCEPHALY, SHORT STATURE, AND DYSPLASTIC NAILS (OMIM:600399)
PEHO syndrome (Orphanet:2836)
PELIZAEUS-MERZBACHER DISEASE (OMIM:312080)
PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, AUTOSOMAL RECESSIVE (OMIM:608097)
PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER (OMIM:616154)
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) (OMIM:214100)
PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER) (OMIM:214110)
PEROXISOME BIOGENESIS DISORDER 3B (OMIM:266510)
PHACE syndrome (Orphanet:42775)
PIERRE ROBIN SEQUENCE WITH PECTUS EXCAVATUM AND RIB AND SCAPULAR ANOMALIES (OMIM:602196)
PITUITARY HORMONE DEFICIENCY, COMBINED, 1 (OMIM:613038)
PMM2-CDG (Orphanet:79318)
POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY (OMIM:611087)
PONTOCEREBELLAR HYPOPLASIA, TYPE 1A (OMIM:607596)
PONTOCEREBELLAR HYPOPLASIA, TYPE 1B (OMIM:614678)
PORETTI-BOLTSHAUSER SYNDROME (OMIM:615960)
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,AUTOSOMAL DOMINANT, 2 (OMIM:609283)
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,AUTOSOMAL DOMINANT, 4 (OMIM:610131)
PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM (OMIM:614501)
Paternal 20q13.2q13.3 microdeletion syndrome (Orphanet:261304)
Pearson syndrome (Orphanet:699)
Pectus excavatum - macrocephaly - dysplastic nails (Orphanet:2835)
Pelizaeus-Merzbacher disease (Orphanet:702)
Pelizaeus-Merzbacher-like due to HSPD1 mutation (Orphanet:280288)
Pellagra-like skin rash-neurological manifestations (Orphanet:2837)
Pentasomy X (Orphanet:11)
Perinatal lethal hypophosphatasia (Orphanet:247623)
Peripheral hypothyroidism (Orphanet:226310)
Peripheral resistance to thyroid hormones (Orphanet:97927)
Perlman syndrome (Orphanet:2849)
Permanent congenital hypothyroidism (Orphanet:226292)
Permanent neonatal diabetes mellitus (Orphanet:99885)
Peroxisomal acyl-CoA oxidase deficiency (Orphanet:2971)
Perrault Syndrome 1 (OMIM:233400)
Phosphoribosylpyrophosphate synthetase superactivity (Orphanet:3222)
Piebaldism (Orphanet:2884)
Pierson syndrome (Orphanet:2670)
Pili torti - developmental delay - neurological abnormalities (Orphanet:2891)
Pitt-Hopkins syndrome (Orphanet:2896)
Pitt-Hopkins-like syndrome 2 (OMIM:614325)
Polymyositis (Orphanet:732)
Pontine tegmental cap dysplasia (Orphanet:269229)
Pontocerebellar hypoplasia type 1 (Orphanet:2254)
Pontocerebellar hypoplasia type 6 (Orphanet:166073)
Pontocerebellar hypoplasia type 7 (Orphanet:284339)
Pontocerebellar hypoplasia type 8 (Orphanet:324569)
Pontocerebellar hypoplasia, type 9 (OMIM:615809)
Porphyria due to ALA dehydratase deficiency (Orphanet:100924)
Potocki-Shaffer syndrome (Orphanet:52022)
Prader-Willi syndrome (Orphanet:739)
Primary CD59 deficiency (Orphanet:169464)
Primary congenital hypothyroidism (Orphanet:226295)
Primary congenital hypothyroidism without thyroid developmental anomaly (Orphanet:95714)
Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome (Orphanet:306558)
Progressive myoclonic epilepsy with dystonia (Orphanet:352596)
Proximal 16p11.2 microdeletion syndrome (Orphanet:261197)
Proximal spinal muscular atrophy (Orphanet:70)
Proximal tubulopathy - diabetes mellitus - cerebellar ataxia (Orphanet:3390)
Pseudoaminopterin syndrome (Orphanet:221120)
Pterygium colli - intellectual deficit - digital anomalies (Orphanet:2988)
Purine nucleoside phosphorylase deficiency (Orphanet:760)
Pyridoxine-dependent epilepsy (Orphanet:3006)
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)
RFT1-CDG (Orphanet:244310)
Radio-ulnar synostosis - intellectual deficit - hypotonia (Orphanet:3270)
Recombinant 8 syndrome (Orphanet:96167)
Refsum disease (Orphanet:773)
Renal tubulopathy - encephalopathy - liver failure (Orphanet:254902)
Resistance to thyrotropin-releasing hormone syndrome (Orphanet:99832)
Rhizomelic chondrodysplasia punctata type 2 (Orphanet:309796)
Riboflavin transporter deficiency (Orphanet:97229)
Rigid spine syndrome (Orphanet:97244)
Ring chromosome 10 (Orphanet:1438)
Roifman syndrome (Orphanet:353298)
Rosaï-Dorfman disease (Orphanet:158014)
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion (Orphanet:353281)
Rubinstein-Taybi syndrome due to CREBBP mutations (Orphanet:353277)
SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY (OMIM:614800)
SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS,AND DEVELOPMENTAL DELAY (OMIM:616084)
SLC35A2-CDG (Orphanet:356961)
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 17 (OMIM:616127)
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18 (OMIM:616204)
SPONASTRIME dysplasia (Orphanet:93357)
SRD5A3-CDG (Orphanet:324737)
STIFF SKIN SYNDROME (OMIM:184900)
STRIATONIGRAL DEGENERATION, INFANTILE, MITOCHONDRIAL (OMIM:500003)
STT3A-CDG (Orphanet:370921)
STT3B-CDG (Orphanet:370924)
Salla disease (Orphanet:309334)
Schinzel-Giedion syndrome (Orphanet:798)
Severe Canavan disease (Orphanet:314911)
Severe X-linked mitochondrial encephalomyopathy (Orphanet:238329)
Severe intellectual deficit - epilepsy - anal anomalies - distal phalangeal hypoplasia (Orphanet:94066)
Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency (Orphanet:35123)
Short chain acyl-CoA dehydrogenase deficiency (Orphanet:26792)
Short stature - heart defect - craniofacial anomalies (Orphanet:1088)
Short stature - valvular heart disease - characteristic facies (Orphanet:2868)
Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome (Orphanet:314394)
Shprintzen-Goldberg syndrome (Orphanet:2462)
Sialidosis type 1 (Orphanet:812)
Simpson-Golabi-Behmel syndrome (Orphanet:373)
Simpson-Golabi-Behmel syndrome type 2 (Orphanet:79022)
Singleton-Merten dysplasia (Orphanet:85191)
Sjögren-Larsson syndrome (Orphanet:816)
Smith-Lemli-Opitz syndrome (Orphanet:818)
Smith-Magenis syndrome (Orphanet:819)
Sotos syndrome (Orphanet:821)
Spastic diplegia, infantile type (Orphanet:1680)
Spinocerebellar ataxia - dysmorphism (Orphanet:1185)
Spinocerebellar ataxia type 1 (Orphanet:98755)
Spinocerebellar ataxia type 13 (Orphanet:98768)
Spinocerebellar ataxia type 2 (Orphanet:98756)
Spinocerebellar ataxia type 5 (Orphanet:98766)
Spondylo-ocular syndrome (Orphanet:85194)
Spondyloepimetaphyseal dysplasia - short limb - abnormal calcification (Orphanet:93358)
Spondyloepimetaphyseal dysplasia with joint laxity (Orphanet:93359)
Spondyloepimetaphyseal dysplasia with multiple dislocations (Orphanet:93360)
Spondyloepimetaphyseal dysplasia, Geneviève type (Orphanet:168454)
Spondyloepiphyseal dysplasia congenita (Orphanet:94068)
Spondylometaphyseal dysplasia, Sedaghatian type (Orphanet:93317)
Sporadic Leigh syndrome (Orphanet:255199)
Steinert myotonic dystrophy (Orphanet:273)
Sternal malformation - vascular dysplasia (Orphanet:3195)
Stickler syndrome (Orphanet:828)
Stüve-Wiedemann syndrome (Orphanet:3206)
Symptomatic form of Coffin-Lowry syndrome in female carriers (Orphanet:276630)
Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers (Orphanet:206546)
Synaptic congenital myasthenic syndromes (Orphanet:98915)
Syndromic microphthalmia type 5 (Orphanet:178364)
TARP syndrome (Orphanet:2886)
TEMPLE SYNDROME (OMIM:616222)
TEMPLE-BARAITSER SYNDROME (OMIM:611816)
TENORIO SYNDROME (OMIM:616260)
TMCO1 defect syndrome (Orphanet:228407)
TMEM165-CDG (Orphanet:314667)
TRICHORRHEXIS NODOSA SYNDROME (OMIM:275550)
Tay-Sachs disease (Orphanet:845)
Tel Hashomer camptodactyly syndrome (Orphanet:3292)
Temtamy syndrome (Orphanet:1777)
Tetrasomy 12p (Orphanet:884)
Tetrasomy X (Orphanet:9)
Thanatophoric dysplasia type 1 (Orphanet:1860)
Thanatophoric dysplasia type 2 (Orphanet:93274)
Thiamine-responsive maple syrup urine disease (Orphanet:268184)
Thoracic dysplasia-hydrocephalus syndrome (Orphanet:1861)
Thrombocytopenia - Robin sequence (Orphanet:3323)
Thyroid ectopia (Orphanet:95712)
Thyroid hemiagenesis (Orphanet:95719)
Thyroid hypoplasia (Orphanet:95720)
Timothy syndrome (Orphanet:65283)
Toluene embryopathy (Orphanet:1920)
Toriello-Carey syndrome (Orphanet:3338)
Toriello-Lacassie-Droste syndrome (Orphanet:3339)
Transient congenital hypothyroidism (Orphanet:178045)
Trichorhinophalangeal syndrome type 1 and 3 (Orphanet:77258)
Trigonocephaly - bifid nose - acral anomalies (Orphanet:3368)
Triose phosphate-isomerase deficiency (Orphanet:868)
Triple A syndrome (Orphanet:869)
Trisomy 13 (Orphanet:3378)
Trisomy 17p (Orphanet:261290)
Trisomy 18 (Orphanet:3380)
Trisomy 20p (Orphanet:261318)
Trisomy 4p (Orphanet:1738)
Trisomy X (Orphanet:3375)
Tyrosinemia type 3 (Orphanet:69723)
Ulna hypoplasia - intellectual deficit (Orphanet:2249)
VAN MALDERGEM SYNDROME 1 (OMIM:601390)
VAN MALDERGEM SYNDROME 2 (OMIM:615546)
VELOCARDIOFACIAL SYNDROME (OMIM:192430)
VISCERAL STEATOSIS, CONGENITAL (OMIM:228100)
VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A (OMIM:264700)
VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1B (OMIM:600081)
VITAMIN D-DEPENDENT RICKETS, TYPE 2A (OMIM:277440)
Van Regemorter-Pierquin-Vamos syndrome (Orphanet:3419)
Very long chain acyl-CoA dehydrogenase deficiency (Orphanet:26793)
Vici syndrome (Orphanet:1493)
Visceral neuropathy - brain anomalies - facial dysmorphism - developmental delay (Orphanet:73246)
Vitamin B12-responsive methylmalonic acidemia (Orphanet:28)
Vitamin B12-responsive methylmalonic acidemia type cblA (Orphanet:79310)
Vitamin B12-responsive methylmalonic acidemia type cblB (Orphanet:79311)
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)
Vitamin B12-unresponsive methylmalonic acidemia type mut0 (Orphanet:289916)
WARBURG MICRO SYNDROME 1 (OMIM:600118)
Waardenburg-Shah syndrome (Orphanet:897)
Walker-Warburg syndrome (Orphanet:899)
Warsaw breakage syndrome (Orphanet:280558)
Weaver syndrome (Orphanet:3447)
White matter hypoplasia - corpus callosum agenesis - intellectual deficit (Orphanet:3207)
Wiedemann-Rautenstrauch syndrome (Orphanet:3455)
Wiedemann-Steiner syndrome (Orphanet:319182)
Williams syndrome (Orphanet:904)
Wilson-Turner syndrome (Orphanet:3459)
Wolf-Hirschhorn syndrome (Orphanet:280)
Wrinkly skin syndrome (Orphanet:2834)
X-linked Emery-Dreifuss muscular dystrophy (Orphanet:98863)
X-linked centronuclear myopathy (Orphanet:596)
X-linked creatine transporter deficiency (Orphanet:52503)
X-linked distal arthrogryposis multiplex congenita (Orphanet:1145)
X-linked intellectual deficit - cerebellar hypoplasia (Orphanet:137831)
X-linked intellectual deficit with marfanoid habitus (Orphanet:776)
X-linked intellectual deficit, Najm type (Orphanet:163937)
X-linked lissencephaly with abnormal genitalia (Orphanet:452)
X-linked neurodegenerative syndrome, Bertini type (Orphanet:85334)
X-linked sideroblastic anemia - ataxia (Orphanet:2802)
X-linked spinocerebellar ataxia type 3 (Orphanet:85297)
XIA-GIBBS SYNDROME (OMIM:615829)
XYLOSIDASE DEFICIENCY (OMIM:278900)
Xq27.3q28 duplication syndrome (Orphanet:261483)
Yunis-Varon syndrome (Orphanet:3472)
Zellweger syndrome (Orphanet:912)
Zellweger-like syndrome without peroxisomal anomalies (Orphanet:50812)
Zimmermann-Laband syndrome (Orphanet:3473)
Zunich-Kaye syndrome (Orphanet:3474)
[DEL] ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1 (OMIM:208085)
[DEL] COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23 (OMIM:616198)
[DEL] LEIGH SYNDROME, X-LINKED (OMIM:308930)
[DEL] SENGERS SYNDROME (OMIM:212350)