Neurodevelopmental delay

Symptom Information:

Symptom ID: HPO:0012758
Cross references:
Is a (Direct Parents):
Is a (Whole tree): HPO:
Database Frequency: 949 / 7739
Resource: HPO

All diseases associated with this symptom:

10q22.3q23.3 microdeletion syndrome (Orphanet:276413)
10q22.3q23.3 microduplication syndrome (Orphanet:276422)
12q14 microdeletion syndrome (Orphanet:94063)
14q11.2 microdeletion syndrome (Orphanet:261120)
14q12 microdeletion syndrome (Orphanet:261144)
14q22q23 microdeletion syndrome (Orphanet:264200)
15q11q13 microduplication syndrome (Orphanet:238446)
15q13.3 microdeletion syndrome (Orphanet:199318)
15q14 microdeletion syndrome (Orphanet:261190)
15q24 microdeletion syndrome (Orphanet:94065)
16p11.2p12.2 microdeletion syndrome (Orphanet:261211)
16p11.2p12.2 microduplication syndrome (Orphanet:261204)
16p13.11 microdeletion syndrome (Orphanet:261236)
16p13.11 microduplication syndrome (Orphanet:261243)
16q24.3 microdeletion syndrome (Orphanet:261250)
17p11.2 microduplication syndrome (Orphanet:1713)
17p13.3 microduplication syndrome (Orphanet:217385)
17q11.2 microduplication syndrome (Orphanet:139474)
17q12 microdeletion syndrome (Orphanet:261265)
17q12 microduplication syndrome (Orphanet:261272)
17q21.31 microduplication syndrome (Orphanet:217340)
17q23.1q23.2 microdeletion syndrome (Orphanet:261279)
19p13.12 microdeletion syndrome (Orphanet:254346)
19q13.11 microdeletion syndrome (Orphanet:217346)
1p36 deletion syndrome (Orphanet:1606)
1q21.1 microdeletion syndrome (Orphanet:250989)
1q21.1 microduplication syndrome (Orphanet:250994)
1q44 microdeletion syndrome (Orphanet:238769)
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)
3C syndrome (Orphanet:7)
3q29 microdeletion syndrome (Orphanet:65286)
3q29 microduplication (Orphanet:251038)
4-hydroxybutyric aciduria (Orphanet:22)
48,XXXY syndrome (Orphanet:96263)
49,XXXXY syndrome (Orphanet:96264)
4q21 microdeletion syndrome (Orphanet:238750)
5q14.3 microdeletion syndrome (Orphanet:228384)
5q35 microduplication syndrome (Orphanet:228415)
6p22 microdeletion syndrome (Orphanet:251046)
6q16 deletion syndrome (Orphanet:171829)
6q25 microdeletion syndrome (Orphanet:251056)
8p11.2 deletion syndrome (Orphanet:251066)
8p23.1 microdeletion syndrome (Orphanet:251071)
8p23.1 microduplication syndrome (Orphanet:251076)
8q12 microduplication syndrome (Orphanet:228399)
8q21.11 microdeletion syndrome (Orphanet:284160)
8q22.1 microdeletion syndrome (Orphanet:178303)
ALDH18A1-related De Barsy syndrome (Orphanet:35664)
ALG1-CDG (Orphanet:79327)
ALG12-CDG (Orphanet:79324)
ALG2-CDG (Orphanet:79326)
ALG3-CDG (Orphanet:79321)
ALG6-CDG (Orphanet:79320)
ALG9-CDG (Orphanet:79328)
Aarskog-Scott syndrome (Orphanet:915)
Ablepharon macrostomia syndrome (Orphanet:920)
Acanthosis nigricans (Orphanet:924)
Achalasia - microcephaly (Orphanet:929)
Acro-cardio-facial syndrome (Orphanet:2008)
Acro-fronto-facio-nasal dysostosis (Orphanet:1784)
Acrocallosal syndrome (Orphanet:36)
Acrodysostosis (Orphanet:950)
Acrofacial dysostosis, Catania type (Orphanet:1786)
Acrogeria (Orphanet:2500)
Acromegaloid facial appearance syndrome (Orphanet:965)
Acromesomelic dysplasia, Hunter-Thomson type (Orphanet:968)
Acropectorovertebral dysplasia (Orphanet:957)
Adams-Oliver syndrome (Orphanet:974)
Adducted thumbs - arthrogryposis, Christian type (Orphanet:2952)
Adrenomyodystrophy (Orphanet:977)
Adult polyglucosan body disease (Orphanet:206583)
Adult-onset autosomal dominant leukodystrophy (Orphanet:99027)
Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia (Orphanet:52055)
Aicardi syndrome (Orphanet:50)
Aicardi-Goutières syndrome (Orphanet:51)
Alagille syndrome (Orphanet:52)
Albright hereditary osteodystrophy (Orphanet:665)
Alexander disease (Orphanet:58)
Allan-Herndon-Dudley syndrome (Orphanet:59)
Alopecia - contractures - dwarfism - intellectual deficit (Orphanet:1005)
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 2 (Orphanet:79280)
Alpha-N-acetylgalactosaminidase deficiency type 3 (Orphanet:79281)
Alpha-mannosidosis (Orphanet:61)
Alpha-thalassemia (Orphanet:846)
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)
Amelogenesis imperfecta and gingival hyperplasia syndrome (Orphanet:171836)
Amish lethal microcephaly (Orphanet:99742)
Angelman syndrome (Orphanet:72)
Angio-osteohypertrophic syndrome (Orphanet:2346)
Aniridia (Orphanet:77)
Aniridia - cerebellar ataxia - intellectual deficit (Orphanet:1065)
Aniridia - ptosis - intellectual deficit - familial obesity (Orphanet:1067)
Aniridia - renal agenesis - psychomotor retardation (Orphanet:1064)
Aniridia-intellectual deficit syndrome (Orphanet:1068)
Anophthalmia/microphthalmia - esophageal atresia (Orphanet:77298)
Aortic arch anomaly - peculiar facies - intellectual deficit (Orphanet:1110)
Apert syndrome (Orphanet:87)
Arachnodactyly - abnormal ossification - intellectual deficit (Orphanet:1129)
Arachnodactyly - intellectual deficit - dysmorphism (Orphanet:1130)
Arterial tortuosity syndrome (Orphanet:3342)
Arthrogryposis - renal dysfunction - cholestasis (Orphanet:2697)
Arthrogryposis multiplex congenita - whistling face (Orphanet:1150)
Aspartylglucosaminuria (Orphanet:93)
Ataxia - photosensitivity - short stature (Orphanet:1184)
Ataxia - tapetoretinal degeneration (Orphanet:1178)
Ataxia-deafness-retardation syndrome (Orphanet:1188)
Ataxia-telangiectasia (Orphanet:100)
Athyreosis (Orphanet:95713)
Atkin-Flaitz syndrome (Orphanet:1193)
Attenuated Chédiak-Higashi syndrome (Orphanet:352723)
Atypical Rett syndrome (Orphanet:3095)
Autosomal dominant Larsen syndrome (Orphanet:503)
Autosomal dominant Robinow syndrome (Orphanet:3107)
Autosomal dominant popliteal pterygium syndrome (Orphanet:1300)
Autosomal recessive Robinow syndrome (Orphanet:1507)
Autosomal recessive cerebelloparenchymal disorder type 3 (Orphanet:1170)
Autosomal recessive chorioretinopathy-microcephaly (Orphanet:2518)
Autosomal recessive cutis laxa type 2 (Orphanet:90350)
Autosomal recessive distal osteolysis syndrome (Orphanet:2776)
Autosomal recessive malignant osteopetrosis (Orphanet:667)
Autosomal recessive multiple pterygium syndrome (Orphanet:2990)
Autosomal recessive omodysplasia (Orphanet:93329)
Autosomal recessive spastic paraplegia type 11 (Orphanet:2822)
Autosomal recessive spondylocostal dysostosis (Orphanet:2311)
BRESEK syndrome (Orphanet:85284)
Bamforth syndrome (Orphanet:1226)
Bannayan-Riley-Ruvalcaba syndrome (Orphanet:109)
Baraitser-Winter syndrome (Orphanet:2995)
Bartsocas-Papas syndrome (Orphanet:1234)
Behr syndrome (Orphanet:1239)
Benign adult familial myoclonic epilepsy (Orphanet:86814)
Benign familial neonatal seizures (Orphanet:1949)
Beta-mannosidosis (Orphanet:118)
Bird headed-dwarfism, Montreal type (Orphanet:2617)
Blepharonasofacial malformation syndrome (Orphanet:1252)
Blepharophimosis - ptosis - esotropia - syndactyly - short stature (Orphanet:2057)
Blepharophimosis - radioulnar synostosis (Orphanet:1256)
Blepharophimosis-intellectual deficit syndrome, Ohdo type (Orphanet:2728)
Blepharophimosis-intellectual deficit syndrome, SBBYS type (Orphanet:3047)
Bohring-Opitz syndrome (Orphanet:97297)
Bonnemann-Meinecke-Reich syndrome (Orphanet:1261)
Borjeson-Forssman-Lehmann syndrome (Orphanet:127)
Bowed tibiae - radial anomalies - osteopenia - fractures (Orphanet:3331)
Bowen-Conradi syndrome (Orphanet:1270)
Brachydactyly - mesomelia - intellectual deficit - heart defects (Orphanet:1277)
Brachydactyly - nystagmus - cerebellar ataxia (Orphanet:1246)
Brachymorphism - onychodysplasia - dysphalangism (Orphanet:1292)
Brain malformation - congenital heart disease - postaxial polydactyly (Orphanet:75389)
Bullous dystrophy, macular type (Orphanet:1867)
C syndrome (Orphanet:1308)
CEDNIK syndrome (Orphanet:66631)
CHARGE syndrome (Orphanet:138)
CHILD syndrome (Orphanet:139)
CINCA syndrome (Orphanet:1451)
CODAS syndrome (Orphanet:1458)
COFS syndrome (Orphanet:1466)
Cabezas syndrome (Orphanet:85293)
Camptodactyly - fibrous tissue hyperplasia - skeletal dysplasia (Orphanet:1321)
Camptodactyly syndrome, Guadalajara type 1 (Orphanet:1327)
Canavan disease (Orphanet:141)
Cardiocranial syndrome, Pfeiffer type (Orphanet:2872)
Cardiofaciocutaneous syndrome (Orphanet:1340)
Carey-Fineman-Ziter syndrome (Orphanet:1358)
Carnosinemia (Orphanet:1361)
Cartilage-hair hypoplasia (Orphanet:175)
Cat-eye syndrome (Orphanet:195)
Cataract - ataxia - deafness (Orphanet:1368)
Cataract - deafness - hypogonadism (Orphanet:1383)
Cataract - hypertrichosis - intellectual deficit (Orphanet:1375)
Cataract - intellectual deficit - anal atresia - urinary defects (Orphanet:1381)
Cataract - intellectual deficit - hypogonadism (Orphanet:1387)
Cataract - nephropathy - encephalopathy (Orphanet:1380)
Celiac disease, epilepsy and cerebral calcification syndrome (Orphanet:1459)
Central bilateral macrogyria (Orphanet:2431)
Cerebellar hypoplasia - tapetoretinal degeneration (Orphanet:2246)
Cerebellum agenesis - hydrocephaly (Orphanet:1397)
Cerebro-costo-mandibular syndrome (Orphanet:1393)
Cerebro-facio-thoracic dysplasia (Orphanet:1394)
Cerebro-oculo-nasal syndrome (Orphanet:66625)
Cerebro-reno-digital syndrome (Orphanet:1396)
Cerebrotendinous xanthomatosis (Orphanet:909)
Char syndrome (Orphanet:46627)
Chondrodysplasia - disorder of sex development (Orphanet:1422)
Christianson syndrome (Orphanet:85278)
Chédiak-Higashi syndrome (Orphanet:167)
Classic galactosemia (Orphanet:79239)
Classical homocystinuria (Orphanet:394)
Cleft palate - large ears - small head (Orphanet:2013)
Cleft palate - short stature - vertebral anomalies (Orphanet:2015)
Cockayne syndrome (Orphanet:191)
Coffin-Lowry syndrome (Orphanet:192)
Coffin-Siris syndrome (Orphanet:1465)
Cohen syndrome (Orphanet:193)
Cole-Carpenter syndrome (Orphanet:2050)
Conductive deafness - malformed external ear (Orphanet:3216)
Congenital disorder of glycosylation (Orphanet:137)
Congenital heart block (Orphanet:60041)
Congenital hypothyroidism (Orphanet:442)
Congenital hypothyroidism due to developmental anomaly (Orphanet:95711)
Congenital lactic acidosis, Saguenay-Lac-St. Jean type (Orphanet:70472)
Congenital muscular dystrophy due to LMNA mutation (Orphanet:157973)
Congenital rubella syndrome (Orphanet:290)
Congenital short bowel syndrome (Orphanet:2301)
Congenital toxoplasmosis (Orphanet:858)
Congenital unilateral hypoplasia of depressor anguli oris (Orphanet:1166)
Contractures - ectodermal dysplasia - cleft lip/palate (Orphanet:1484)
Cooper-Jabs syndrome (Orphanet:1488)
Corneal anesthesia - deafness - intellectual deficit (Orphanet:1051)
Corneal-cerebellar syndrome (Orphanet:3177)
Cornelia de Lange syndrome (Orphanet:199)
Corpus callosum agenesis - double urinary collecting system (Orphanet:1492)
Corpus callosum agenesis - neuronopathy (Orphanet:1496)
Cortical blindness - intellectual deficit - polydactyly (Orphanet:1389)
Costello syndrome (Orphanet:3071)
Craniodiaphyseal dysplasia (Orphanet:1513)
Craniofacial dyssynostosis (Orphanet:1516)
Craniofrontonasal dysplasia (Orphanet:1520)
Craniosynostosis - Dandy-Walker malformation - hydrocephalus (Orphanet:1538)
Craniosynostosis - anal anomalies - porokeratosis (Orphanet:85199)
Craniosynostosis - hydrocephalus - Chiari I malformation - radioulnar synostosis (Orphanet:171839)
Craniosynostosis, Herrmann-Opitz type (Orphanet:2145)
Craniotelencephalic dysplasia (Orphanet:1528)
Crigler-Najjar syndrome (Orphanet:205)
Crigler-Najjar syndrome type 1 (Orphanet:79234)
Cryptorchidism - arachnodactyly - intellectual deficit (Orphanet:1548)
Curry-Jones syndrome (Orphanet:1553)
Cutis laxa (Orphanet:209)
Cutis marmorata telangiectatica congenita (Orphanet:1556)
Cystic fibrosis - gastritis - megaloblastic anemia (Orphanet:2575)
DK1-CDG (Orphanet:91131)
DPAGT1-CDG (Orphanet:86309)
DPM1-CDG (Orphanet:79322)
Dandy-Walker malformation - facial hemangioma (Orphanet:1564)
De Barsy syndrome (Orphanet:2962)
Deafness - enamel hypoplasia - nail defects (Orphanet:3220)
Deafness - epiphyseal dysplasia - short stature (Orphanet:3218)
Deafness - genital anomalies - metacarpal and metatarsal synostosis (Orphanet:3224)
Deafness - intellectual deficit, Martin-Probst type (Orphanet:85321)
Deafness - onychodystrophy (Orphanet:3231)
Delayed speech - facial asymmetry - strabismus - ear lobe creases (Orphanet:3038)
Dentinogenesis imperfecta - short stature - hearing loss - intellectual deficit (Orphanet:71267)
Dermatoleukodystrophy (Orphanet:1659)
Desbuquois syndrome (Orphanet:1425)
Desmosterolosis (Orphanet:35107)
Developmental malformations - deafness - dystonia (Orphanet:79107)
Disorder of sex development - intellectual deficit (Orphanet:2983)
Distal 22q11.2 microdeletion syndrome (Orphanet:261330)
Distal 22q11.2 microduplication syndrome (Orphanet:261337)
Distal 7q11.23 microdeletion syndrome (Orphanet:254351)
Distal limb deficiencies - micrognathia syndrome (Orphanet:1307)
Distal monosomy 10p (Orphanet:1580)
Distal monosomy 13q (Orphanet:1590)
Distal monosomy 19p13.3 (Orphanet:96129)
Distal monosomy 3p (Orphanet:1620)
Distal monosomy 6p (Orphanet:96125)
Distal monosomy 7q36 (Orphanet:1636)
Distal monosomy 9p (Orphanet:1642)
Distal trisomy 14q (Orphanet:1705)
Distal trisomy 15q (Orphanet:1707)
Distal trisomy 18q (Orphanet:1716)
Distal trisomy 6p (Orphanet:1745)
Donnai-Barrow syndrome (Orphanet:2143)
Down syndrome (Orphanet:870)
Duane retraction syndrome (Orphanet:233)
Dubowitz syndrome (Orphanet:235)
Duchenne and Becker muscular dystrophy (Orphanet:262)
Dwarfism - intellectual deficit - eye abnormality (Orphanet:2650)
Dyggve-Melchior-Clausen disease (Orphanet:239)
Dysequilibrium syndrome (Orphanet:1766)
Dyskeratosis congenita (Orphanet:1775)
Dysmorphism - cleft palate - loose skin (Orphanet:1779)
Dysmorphism - short stature - deafness - disorder of sex development (Orphanet:2282)
Dysosteosclerosis (Orphanet:1782)
Dysspondyloenchondromatosis (Orphanet:85198)
EEC syndrome (Orphanet:1896)
Ear-patella-short stature syndrome (Orphanet:2554)
Early-onset parkinsonism - intellectual deficit (Orphanet:2379)
Ectodermal dysplasia - blindness (Orphanet:1806)
Ectodermal dysplasia - intellectual deficit - central nervous system malformation (Orphanet:1812)
Ectodermal dysplasia - sensorineural deafness (Orphanet:1883)
Ectodermal dysplasia, Berlin type (Orphanet:1816)
Edinburgh malformation syndrome (Orphanet:1895)
Ehlers-Danlos syndrome with periventricular heterotopia (Orphanet:82004)
Ehlers-Danlos syndrome, classic type (Orphanet:287)
Ehlers-Danlos syndrome, musculocontractural type (Orphanet:2953)
Ehlers-Danlos syndrome, vascular type (Orphanet:286)
Ellis Van Creveld syndrome (Orphanet:289)
Embryofetopathy due to oral anticoagulant therapy (Orphanet:1914)
Emery-Dreifuss muscular dystrophy (Orphanet:261)
Encephalocraniocutaneous lipomatosis (Orphanet:2396)
Encephalopathy due to beta-mercaptolactate-cysteine disulfiduria (Orphanet:1035)
Encephalopathy due to sulfite oxidase deficiency (Orphanet:833)
Endomyocardial fibroelastosis (Orphanet:2022)
Epidermolysis bullosa simplex with anodontia/hypodontia (Orphanet:2325)
Epilepsy - microcephaly - skeletal dysplasia (Orphanet:1948)
Epilepsy telangiectasia (Orphanet:1951)
Epiphyseal dysplasia - hearing loss - dysmorphism (Orphanet:1825)
Ermine phenotype (Orphanet:999)
Erythrokeratodermia variabilis (Orphanet:317)
Extrasystoles - short stature - hyperpigmentation - microcephaly (Orphanet:1964)
Fabry disease (Orphanet:324)
Facial asymmetry - temporal seizures (Orphanet:1167)
Facial dysmorphism - macrocephaly - myopia - Dandy-Walker malformation (Orphanet:1970)
Facial dysmorphism - shawl scrotum - joint laxity (Orphanet:1778)
Faciocardiorenal syndrome (Orphanet:1973)
Fallot complex - intellectual deficit - growth delay (Orphanet:3304)
Familial lambdoid synostosis (Orphanet:3267)
Familial multiple nevi flammei (Orphanet:624)
Familial scaphocephaly syndrome, McGillivray type (Orphanet:168624)
Familial thyroid dyshormonogenesis (Orphanet:95716)
Fanconi anemia (Orphanet:84)
Farber lipogranulomatosis (Orphanet:333)
Feingold syndrome (Orphanet:1305)
Fetal alcohol syndrome (Orphanet:1915)
Fetal brain disruption sequence (Orphanet:1665)
Fetal hydantoin syndrome (Orphanet:1912)
Fetal iodine syndrome (Orphanet:1910)
Fetal trimethadione syndrome (Orphanet:1913)
Fetal varicella syndrome (Orphanet:291)
Fibrodysplasia ossificans progressiva (Orphanet:337)
Filippi syndrome (Orphanet:3255)
Fine-Lubinsky syndrome (Orphanet:1272)
Floating-Harbor syndrome (Orphanet:2044)
Focal dermal hypoplasia (Orphanet:2092)
Foix-Chavany-Marie syndrome (Orphanet:2048)
Fountain syndrome (Orphanet:3219)
Fragile X syndrome (Orphanet:908)
Fraser syndrome (Orphanet:2052)
Free sialic acid storage disease (Orphanet:834)
Fried syndrome (Orphanet:85335)
Frontonasal dysplasia (Orphanet:250)
Frontonasal dysplasia with alopecia and genital anomaly (Orphanet:228390)
Fryns syndrome (Orphanet:2059)
Fryns-Smeets-Thiry syndrome (Orphanet:2058)
Fucosidosis (Orphanet:349)
GMS syndrome (Orphanet:2090)
Galactose epimerase deficiency (Orphanet:79238)
Galactosemia (Orphanet:352)
Galactosialidosis (Orphanet:351)
Galloway-Mowat syndrome (Orphanet:2065)
Geleophysic dysplasia (Orphanet:2623)
Gemignani syndrome (Orphanet:2074)
Genitopatellar syndrome (Orphanet:85201)
German syndrome (Orphanet:2077)
Geroderma osteodysplastica (Orphanet:2078)
Gingival fibromatosis-hypertrichosis syndrome (Orphanet:2026)
Glutaryl-CoA dehydrogenase deficiency (Orphanet:25)
Glycogen storage disease due to LAMP-2 deficiency (Orphanet:34587)
Glycogen storage disease due to glucose-6-phosphatase deficiency (Orphanet:364)
Glycogen storage disease due to glycogen debranching enzyme deficiency (Orphanet:366)
Glycogen storage disease due to phosphorylase kinase deficiency (Orphanet:370)
Goldberg-Shprintzen megacolon syndrome (Orphanet:66629)
Goldenhar syndrome (Orphanet:374)
Gonadal dysgenesis, XY type - associated anomalies (Orphanet:1770)
Gorlin syndrome (Orphanet:377)
Gorlin-Chaudhry-Moss syndrome (Orphanet:2095)
Grange syndrome (Orphanet:79094)
Greig cephalopolysyndactyly syndrome (Orphanet:380)
Griscelli disease (Orphanet:381)
Griscelli disease type 1 (Orphanet:79476)
Grix-Blankenship-Peterson syndrome (Orphanet:2099)
Growth delay due to insulin-like growth factor I resistance (Orphanet:73273)
Growth hormone insensitivity syndrome (Orphanet:181393)
Grubben-de Cock-Borghgraef syndrome (Orphanet:2101)
Gómez-López-Hernández syndrome (Orphanet:1532)
Haddad syndrome (Orphanet:99803)
Hair defect - photosensitivity - intellectual deficit (Orphanet:1408)
Hall-Riggs syndrome (Orphanet:2107)
Hallermann-Streiff syndrome (Orphanet:2108)
Hamel cerebro-palato-cardiac syndrome (Orphanet:93946)
Harrod syndrome (Orphanet:2115)
Hartnup syndrome (Orphanet:2116)
Heart-hand syndrome type 2 (Orphanet:1350)
Hemihypertrophy (Orphanet:2128)
Hennekam syndrome (Orphanet:2136)
Hepatic fibrosis - renal cysts - intellectual deficit (Orphanet:2031)
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type (Orphanet:324703)
Hereditary folate malabsorption (Orphanet:90045)
Hereditary hyperekplexia (Orphanet:3197)
Hereditary myoclonus - progressive distal muscular atrophy (Orphanet:2590)
Hereditary orotic aciduria (Orphanet:30)
Hereditary sensory and autonomic neuropathy type 4 (Orphanet:642)
Hernandez-Aguirre Negrete syndrome (Orphanet:2139)
Hidrotic ectodermal dysplasia (Orphanet:189)
Hidrotic ectodermal dysplasia, Halal type (Orphanet:1809)
Hirschsprung disease (Orphanet:388)
Hirschsprung disease - deafness - polydactyly (Orphanet:2155)
Hirsutism - skeletal dysplasia - intellectual deficit (Orphanet:2156)
Histidinuria - renal tubular defect (Orphanet:2158)
Holoprosencephaly (Orphanet:2162)
Holoprosencephaly - craniosynostosis (Orphanet:2163)
Homocystinuria without methylmalonic aciduria (Orphanet:622)
Horizontal gaze palsy with progressive scoliosis (Orphanet:2744)
Hoyeraal-Hreidarsson syndrome (Orphanet:3322)
Hurler syndrome (Orphanet:93473)
Hydrocephalus - costovertebral dysplasia - Sprengel anomaly (Orphanet:2180)
Hydrocephalus - obesity - hypogonadism (Orphanet:2183)
Hydrocephalus with stenosis of aqueduct of Sylvius (Orphanet:2182)
Hyperimmunoglobulinemia D with periodic fever (Orphanet:343)
Hypertelorism-microtia-facial clefting syndrome (Orphanet:2213)
Hypertrichosis cubiti - short stature (Orphanet:2220)
Hypertrichotic osteochondrodysplasia, Cantu type (Orphanet:1517)
Hypertryptophanemia (Orphanet:2224)
Hypo- and hypermelanotic cutaneous macules - retarded growth - intellectual deficiency (Orphanet:2435)
Hypochondroplasia (Orphanet:429)
Hypoglossia - hypodactyly (Orphanet:989)
Hypogonadism - mitral valve prolapse - intellectual deficit (Orphanet:2233)
Hypohidrotic ectodermal dysplasia (Orphanet:238468)
Hypomandibular faciocranial dysostosis (Orphanet:1790)
Hypomyelination - congenital cataract (Orphanet:85163)
Hypospadias - hypertelorism - coloboma and deafness (Orphanet:157788)
Hypospadias - intellectual deficit, Goldblatt type (Orphanet:2261)
Hypothyroidism due to deficient transcription factors involved in pituitary development or function (Orphanet:226307)
ICF syndrome (Orphanet:2268)
Ichthyosis - alopecia - eclabion - ectropion - intellectual deficit (Orphanet:2269)
Ichthyosis - intellectual deficit - dwarfism - renal impairment (Orphanet:2278)
Ichthyosis follicularis - alopecia - photophobia (Orphanet:2273)
Incontinentia pigmenti (Orphanet:464)
Infantile Refsum disease (Orphanet:772)
Infantile axonal neuropathy (Orphanet:2679)
Infantile choroido cerebral calcification syndrome (Orphanet:1313)
Infantile spasms - broad thumbs (Orphanet:3173)
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 - hypotonia - skin hyperpigmentation (Orphanet:3050)
Intellectual deficit - microcephaly - phalangeal - facial abnormalities (Orphanet:3067)
Intellectual deficit - myopathy - short stature - endocrine defect (Orphanet:3068)
Intellectual deficit - polydactyly - uncombable hair (Orphanet:3082)
Intellectual deficit - short stature - hypertelorism (Orphanet:3074)
Intellectual deficit - sparse hair - brachydactyly (Orphanet:3051)
Intellectual deficit - spasticity - ectrodactyly (Orphanet:1891)
Intellectual deficit, Buenos-Aires type (Orphanet:3079)
Intellectual deficit, Wolff type (Orphanet:3080)
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 - hypogonadism - ichthyosis - obesity - short stature (Orphanet:85331)
Intellectual deficit, X-linked - hypotonia - facial dysmorphism - aggressive behavior (Orphanet:85329)
Intellectual deficit, X-linked - macrocephaly - macro-orchidism (Orphanet:85320)
Intellectual deficit, X-linked - plagiocephaly (Orphanet:2898)
Intellectual deficit, X-linked - precocious puberty - obesity (Orphanet:85318)
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, Abidi type (Orphanet:85273)
Intellectual deficit, X-linked, Armfield type (Orphanet:85276)
Intellectual deficit, X-linked, Cantagrel type (Orphanet:85277)
Intellectual deficit, X-linked, Martinez type (Orphanet:775)
Intellectual deficit, X-linked, Miles-Carpenter type (Orphanet:85283)
Intellectual deficit, X-linked, Pai type (Orphanet:85322)
Intellectual deficit, X-linked, Shashi type (Orphanet:85286)
Intellectual deficit, X-linked, Shrimpton type (Orphanet:85324)
Intellectual deficit, X-linked, Siderius type (Orphanet:85287)
Intellectual deficit, X-linked, Stevenson type (Orphanet:85325)
Intellectual deficit, X-linked, Vitale type (Orphanet:85289)
Intellectual deficit, X-linked, Wittwer type (Orphanet:85291)
Intellectual deficit, X-linked, Zorick type (Orphanet:85337)
Intellectual disability-developmental delay-contractures syndrome (Orphanet:3454)
Isolated Klippel-Feil syndrome (Orphanet:2345)
Isolated brachycephaly (Orphanet:35099)
Isolated cloverleaf skull syndrome (Orphanet:2343)
Isolated glycerol kinase deficiency (Orphanet:408)
Isolated oxycephaly (Orphanet:63440)
Isolated plagiocephaly (Orphanet:35098)
Isolated spina bifida (Orphanet:823)
Isotretinoin syndrome (Orphanet:2305)
Isovaleric acidemia (Orphanet:33)
Ito hypomelanosis (Orphanet:435)
Jacobsen syndrome (Orphanet:2308)
Johanson-Blizzard syndrome (Orphanet:2315)
Joubert syndrome (Orphanet:475)
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-Hayward syndrome (Orphanet:2319)
Jung-Wolff-Back-Stahl syndrome (Orphanet:2321)
Juvenile neuronal ceroid lipofuscinosis (Orphanet:79264)
KBG syndrome (Orphanet:2332)
KID syndrome (Orphanet:477)
Kabuki syndrome (Orphanet:2322)
Kaler-Garrity-Stern syndrome (Orphanet:2324)
Kallmann syndrome - heart disease (Orphanet:2326)
Kapur-Toriello syndrome (Orphanet:2328)
Keipert syndrome (Orphanet:2662)
Keratoderma hereditarium mutilans (Orphanet:494)
Keutel syndrome (Orphanet:85202)
Kleefstra syndrome (Orphanet:261494)
Kleefstra syndrome due to 9q34 microdeletion (Orphanet:96147)
Klippel-Trénaunay syndrome (Orphanet:90308)
Koolen-De Vries syndrome (Orphanet:96169)
Krabbe disease (Orphanet:487)
L-2-hydroxyglutaric aciduria (Orphanet:79314)
L1 syndrome (Orphanet:275543)
LIG4 syndrome (Orphanet:99812)
Lambert syndrome (Orphanet:1296)
Lamellar ichthyosis (Orphanet:313)
Langer-Giedion syndrome (Orphanet:502)
Laron syndrome (Orphanet:633)
Larsen-like osseous dysplasia - short stature (Orphanet:2370)
Laryngeal abductor paralysis - intellectual deficit (Orphanet:2375)
Lateral meningocele syndrome (Orphanet:2789)
Lathosterolosis (Orphanet:46059)
Laurence-Moon syndrome (Orphanet:2377)
Laurin-Sandrow syndrome (Orphanet:2378)
Leber congenital amaurosis (Orphanet:65)
Lenz-Majewski hyperostotic dwarfism (Orphanet:2658)
Lesch-Nyhan syndrome (Orphanet:510)
Lethal ataxia with deafness and optic atrophy (Orphanet:1187)
Leukocyte adhesion deficiency (Orphanet:2968)
Linear nevus sebaceus syndrome (Orphanet:2612)
Linear verrucous nevus syndrome (Orphanet:2611)
Lipodystrophy - intellectual deficit - deafness (Orphanet:50811)
Lissencephaly type 1 due to doublecortin gene mutation (Orphanet:2148)
Low birth weight - dwarfism - dysgammaglobulinemia (Orphanet:2621)
Lowry-MacLean syndrome (Orphanet:2409)
Lowry-Wood syndrome (Orphanet:1824)
MASA syndrome (Orphanet:2466)
MEHMO syndrome (Orphanet:85282)
MGAT2-CDG (Orphanet:79329)
MMEP syndrome (Orphanet:3434)
MOMO syndrome (Orphanet:2563)
MPDU1-CDG (Orphanet:79323)
Macrocephaly - short stature - paraplegia (Orphanet:2427)
Macrocephaly - spastic paraplegia - dysmorphism (Orphanet:2429)
Male hypergonadotropic hypogonadism - intellectual deficit - skeletal anomalies (Orphanet:2234)
Malonic aciduria (Orphanet:943)
Mandibulofacial dysostosis-microcephaly syndrome (Orphanet:79113)
Marden-Walker syndrome (Orphanet:2461)
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)
Matthew-Wood syndrome (Orphanet:2470)
McDonough syndrome (Orphanet:2471)
McKusick-Kaufman syndrome (Orphanet:2473)
Megalencephaly (Orphanet:2477)
Megalencephaly-capillary malformation-polymicrogyria syndrome (Orphanet:60040)
Megalocornea-intellectual deficit syndrome (Orphanet:2479)
Mesomelic dwarfism, Nievergelt type (Orphanet:2633)
Mesomelic dysplasia, Savarirayan type (Orphanet:85170)
Metachromatic leukodystrophy (Orphanet:512)
Metaphyseal acroscyphodysplasia (Orphanet:1240)
Metaphyseal dysostosis - intellectual deficit - conductive deafness (Orphanet:2502)
Methylcobalamin deficiency type cblE (Orphanet:2169)
Methylmalonic acidemia with homocystinuria (Orphanet:26)
Methylmalonic acidemia with homocystinuria, type cblD (Orphanet:79283)
Methylmalonic acidemia without homocystinuria (Orphanet:293355)
Mevalonic aciduria (Orphanet:29)
Micrencephaly - corpus callosum agenesis - abnormal genitalia (Orphanet:2508)
Micro syndrome (Orphanet:2510)
Microbrachycephaly - ptosis - cleft lip (Orphanet:2511)
Microcephalic osteodysplastic primordial dwarfism type 2 (Orphanet:2637)
Microcephalic osteodysplastic primordial dwarfism types 1 and 3 (Orphanet:2636)
Microcephalic primordial dwarfism, Toriello type (Orphanet:2643)
Microcephaly - brachydactyly - kyphoscoliosis (Orphanet:3433)
Microcephaly - brain defect - spasticity - hypernatremia (Orphanet:2523)
Microcephaly - cardiac defect - lung malsegmentation (Orphanet:2516)
Microcephaly - cervical spine fusion anomalies (Orphanet:2522)
Microcephaly - cleft palate (Orphanet:2521)
Microcephaly - deafness - intellectual deficit (Orphanet:2533)
Microcephaly - glomerulonephritis - marfanoid habitus (Orphanet:2172)
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-albinism-digital anomalies (Orphanet:2513)
Microcephaly-cardiomyopathy syndrome (Orphanet:2515)
Microcephaly-microcornea syndrome, Seemanova type (Orphanet:2528)
Microduplication Xp11.22-p11.23 syndrome (Orphanet:217377)
Microlissencephaly - micromelia (Orphanet:50810)
Microphthalmia - ankyloblepharon - intellectual deficit (Orphanet:85275)
Microphthalmia with brain and digit anomalies (Orphanet:139471)
Microphthalmia with limb anomalies (Orphanet:1106)
Microphthalmia with linear skin defects syndrome (Orphanet:2556)
Microphthalmia, Lenz type (Orphanet:568)
Mietens syndrome (Orphanet:2557)
Mikati-Najjar-Sahli syndrome (Orphanet:2558)
Mild Canavan disease (Orphanet:314918)
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria (Orphanet:1933)
Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency (Orphanet:1194)
Monilethrix (Orphanet:573)
Monoamine oxidase A deficiency (Orphanet:3057)
Monosomy 13q14 (Orphanet:1587)
Monosomy 18p (Orphanet:1598)
Monosomy 22q13 (Orphanet:48652)
Monosomy 5p (Orphanet:281)
Monosomy 9p (Orphanet:261112)
Monosomy 9q22.3 (Orphanet:77301)
Mosaic trisomy 14 (Orphanet:1703)
Mosaic trisomy 8 (Orphanet:96061)
Mosaic trisomy 9 (Orphanet:99776)
Mosaic variegated aneuploidy syndrome (Orphanet:1052)
Moyamoya disease (Orphanet:2573)
Moynahan syndrome (Orphanet:2574)
Mucolipidosis type 2 (Orphanet:576)
Mucolipidosis type 3 (Orphanet:577)
Mucolipidosis type 4 (Orphanet:578)
Mucopolysaccharidosis type 1 (Orphanet:579)
Mucopolysaccharidosis type 2 (Orphanet:580)
Mucopolysaccharidosis type 3 (Orphanet:581)
Mucopolysaccharidosis type 4 (Orphanet:582)
Mucopolysaccharidosis type 6 (Orphanet:583)
Mucopolysaccharidosis type 7 (Orphanet:584)
Muenke syndrome (Orphanet:53271)
Multiple benign circumferential skin creases on limbs (Orphanet:2505)
Multiple carboxylase deficiency (Orphanet:148)
Multiple sulfatase deficiency (Orphanet:585)
Muscle-eye-brain disease (Orphanet:588)
Muscular dystrophy - white matter spongiosis (Orphanet:1877)
Muscular pseudohypertrophy - hypothyroidism (Orphanet:2349)
Mycophenolate mofetil embryopathy (Orphanet:268249)
Myhre syndrome (Orphanet:2588)
Myopathy - growth delay - intellectual deficit - hypospadias (Orphanet:2601)
Myotonia permanens (Orphanet:99735)
N syndrome (Orphanet:2608)
Nakajo-Nishimura syndrome (Orphanet:2615)
Nance-Horan syndrome (Orphanet:627)
Neonatal adrenoleukodystrophy (Orphanet:44)
Nephrogenic diabetes insipidus - intracranial calcification (Orphanet:3145)
Netherton syndrome (Orphanet:634)
Neurocutaneous melanocytosis (Orphanet:2481)
Neuroectodermal melanolysosomal disease (Orphanet:33445)
Neuroectodermal syndrome, Johnson type (Orphanet:2316)
Neuroectodermal-endocrine syndrome (Orphanet:2676)
Neurofaciodigitorenal syndrome (Orphanet:2673)
Neurofibromatosis - Noonan syndrome (Orphanet:638)
Neurofibromatosis type 1 (Orphanet:636)
Neurologic Waardenburg-Shah syndrome (Orphanet:163746)
Neuronal ceroid lipofuscinosis (Orphanet:216)
Neutral lipid storage disease (Orphanet:165)
Night blindness - skeletal anomalies - dysmorphism (Orphanet:1390)
Nijmegen breakage syndrome (Orphanet:647)
Non-distal monosomy 10q (Orphanet:1581)
Non-distal trisomy 10q (Orphanet:1695)
Non-distal trisomy 13q (Orphanet:1702)
Non-rhizomelic chondrodysplasia punctata (Orphanet:176)
Noonan syndrome with multiple lentigines (Orphanet:500)
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia (Orphanet:363972)
Noonan syndrome-like disorder with loose anagen hair (Orphanet:2701)
Norrie disease (Orphanet:649)
Occipital horn syndrome (Orphanet:198)
Oculo-palato-cerebral syndrome (Orphanet:2714)
Oculo-reno-cerebellar syndrome (Orphanet:2715)
Oculoauriculovertebral spectrum with radial defects (Orphanet:2549)
Oculocerebral hypopigmentation syndrome, Cross type (Orphanet:2719)
Oculocerebral hypopigmentation syndrome, Preus type (Orphanet:2720)
Oculocerebrocutaneous syndrome (Orphanet:1647)
Oculocerebrofacial syndrome, Kaufman type (Orphanet:2707)
Oculocerebrorenal syndrome (Orphanet:534)
Oculodental syndrome, Rutherfurd type (Orphanet:2709)
Oculodentodigital dysplasia (Orphanet:2710)
Oculofaciocardiodental syndrome (Orphanet:2712)
Oculomaxillofacial dysostosis (Orphanet:1794)
Oculoosteocutaneous syndrome (Orphanet:2713)
Odontotrichomelic syndrome (Orphanet:2723)
Okamoto syndrome (Orphanet:2729)
Oliver syndrome (Orphanet:2920)
Omphalocele syndrome, Shprintzen-Goldberg type (Orphanet:3164)
Ondine syndrome (Orphanet:661)
Ophthalmoplegia - intellectual deficit - lingua scrotalis (Orphanet:2743)
Opitz G/BBB syndrome (Orphanet:2745)
Orofaciodigital syndrome type 1 (Orphanet:2750)
Orofaciodigital syndrome type 2 (Orphanet:2751)
Orofaciodigital syndrome type 3 (Orphanet:2752)
Orofaciodigital syndrome type 4 (Orphanet:2753)
Orofaciodigital syndrome type 8 (Orphanet:2755)
Osteochondrodysplatic nanism - deafness - retinitis pigmentosa (Orphanet:2653)
Osteogenesis imperfecta - retinopathy - seizures - intellectual deficit (Orphanet:2773)
Osteoglophonic dwarfism (Orphanet:2645)
Osteopathia striata - cranial sclerosis (Orphanet:2780)
Osteopenia - myopia - hearing loss - intellectual deficit - facial dysmorphism (Orphanet:91133)
Osteopetrosis (Orphanet:2781)
Osteopetrosis with renal tubular acidosis (Orphanet:2785)
Osteoporosis - macrocephaly - blindness - joint hyperlaxity (Orphanet:2787)
Osteoporosis - pseudoglioma (Orphanet:2788)
Osteosclerosis - developmental delay - craniosynostosis (Orphanet:178377)
Oto-onycho-peroneal syndrome (Orphanet:2793)
Otofaciocervical syndrome (Orphanet:2792)
Otopalatodigital syndrome (Orphanet:669)
Otopalatodigital syndrome type 2 (Orphanet:90652)
Oxoglutaricaciduria (Orphanet:31)
PEHO syndrome (Orphanet:2836)
PHACE syndrome (Orphanet:42775)
PTEN hamartoma tumor syndrome (Orphanet:306498)
Pachygyria - intellectual deficit - epilepsy (Orphanet:2798)
Pachyonychia congenita (Orphanet:2309)
Pallister-Hall syndrome (Orphanet:672)
Papilloma of choroid plexus (Orphanet:2807)
Paraplegia - brachydactyly - cone-shaped epiphysis (Orphanet:2823)
Paraplegia - intellectual deficit - hyperkeratosis (Orphanet:2824)
Paris-Trousseau thrombocytopenia (Orphanet:851)
Paternal 20q13.2q13.3 microdeletion syndrome (Orphanet:261304)
Patterson-Stevenson-Fontaine syndrome (Orphanet:2439)
Pectus excavatum - macrocephaly - dysplastic nails (Orphanet:2835)
Pelizaeus-Merzbacher disease (Orphanet:702)
Pellagra-like skin rash-neurological manifestations (Orphanet:2837)
Pelvis-shoulder dysplasia (Orphanet:2839)
Pendred syndrome (Orphanet:705)
Pentasomy X (Orphanet:11)
Peripheral hypothyroidism (Orphanet:226310)
Perlman syndrome (Orphanet:2849)
Permanent congenital hypothyroidism (Orphanet:226292)
Peroxisomal acyl-CoA oxidase deficiency (Orphanet:2971)
Perrault Syndrome (Orphanet:2855)
Peters-plus syndrome (Orphanet:709)
Pfeiffer syndrome type 2 (Orphanet:93259)
Pfeiffer syndrome type 3 (Orphanet:93260)
Phakomatosis pigmentovascularis (Orphanet:2875)
Phenobarbital embryopathy (Orphanet:1919)
Phenylketonuria (Orphanet:716)
Phosphoribosylpyrophosphate synthetase superactivity (Orphanet:3222)
Piebald trait - neurologic defects (Orphanet:2885)
Piebaldism (Orphanet:2884)
Pili torti - developmental delay - neurological abnormalities (Orphanet:2891)
Pilodental dysplasia - refractive errors (Orphanet:2892)
Pilotto syndrome (Orphanet:2894)
Pitt-Hopkins syndrome (Orphanet:2896)
Pituitary stalk interruption syndrome (Orphanet:95496)
Polyneuropathy - intellectual deficit - acromicria - premature menopause (Orphanet:2928)
Polyvalvular heart disease syndrome (Orphanet:228410)
Pontocerebellar hypoplasia, type 9 (OMIM:615809)
Porencephaly (Orphanet:2940)
Potocki-Shaffer syndrome (Orphanet:52022)
Prader-Willi syndrome (Orphanet:739)
Preaxial polydactyly - colobomata - intellectual deficit (Orphanet:2921)
Premature chromosome condensation with microcephaly and intellectual deficit (Orphanet:52183)
Primary congenital hypothyroidism (Orphanet:226295)
Primary cutis verticis gyrata (Orphanet:671)
Progressive epilepsy-intellectual deficit, Finnish type (Orphanet:1947)
Progressive familial intrahepatic cholestasis (Orphanet:172)
Prolidase deficiency (Orphanet:742)
Prominent glabella - microcephaly - hypogenitalism (Orphanet:2083)
Propionic acidemia (Orphanet:35)
Proteus syndrome (Orphanet:744)
Proteus-like syndrome (Orphanet:2969)
Proximal 16p11.2 microdeletion syndrome (Orphanet:261197)
Prune belly syndrome (Orphanet:2970)
Pseudoleprechaunism syndrome, Patterson type (Orphanet:2976)
Pseudoprogeria syndrome (Orphanet:2985)
Pterygium colli - intellectual deficit - digital anomalies (Orphanet:2988)
Pycnodysostosis (Orphanet:763)
Pyridoxine-dependent epilepsy (Orphanet:3006)
Pyruvate dehydrogenase E3 deficiency (Orphanet:2394)
Pyruvate dehydrogenase deficiency (Orphanet:765)
Qazi-Markouizos syndrome (Orphanet:3010)
Radio-ulnar synostosis - intellectual deficit - hypotonia (Orphanet:3270)
Ramon syndrome (Orphanet:3019)
Recombinant 8 syndrome (Orphanet:96167)
Refsum disease (Orphanet:773)
Renpenning syndrome (Orphanet:3242)
Retinitis pigmentosa (Orphanet:791)
Retinitis pigmentosa - intellectual deficit - deafness - hypogenitalism (Orphanet:3085)
Retinohepatoendocrinologic syndrome (Orphanet:3087)
Rett syndrome (Orphanet:778)
Rhizomelic chondrodysplasia punctata (Orphanet:177)
Rhizomelic syndrome, Urbach type (Orphanet:3098)
Rhombencephalosynapsis (Orphanet:59315)
Riboflavin transporter deficiency (Orphanet:97229)
Richards-Rundle syndrome (Orphanet:1399)
Richieri Costa-da Silva syndrome (Orphanet:3101)
Ring chromosome 1 (Orphanet:1437)
Ring chromosome 10 (Orphanet:1438)
Ring chromosome 8 (Orphanet:1450)
Roberts syndrome (Orphanet:3103)
Rothmund-Thomson syndrome (Orphanet:2909)
Rubinstein-Taybi syndrome (Orphanet:783)
Ruvalcaba syndrome (Orphanet:3121)
SCARF syndrome (Orphanet:3134)
Saethre-Chotzen syndrome (Orphanet:794)
Sandhoff disease (Orphanet:796)
Sanjad-Sakati syndrome (Orphanet:2323)
Say-Barber-Miller syndrome (Orphanet:3132)
Say-Field-Coldwell syndrome (Orphanet:3133)
Schilbach-Rott syndrome (Orphanet:2353)
Schinzel-Giedion syndrome (Orphanet:798)
Schizencephaly (Orphanet:799)
Schwartz-Jampel syndrome (Orphanet:800)
Seckel syndrome (Orphanet:808)
Seizures - intellectual deficit due to hydroxylysinuria (Orphanet:79156)
Senior-Loken syndrome (Orphanet:3156)
Septo-optic dysplasia (Orphanet:3157)
Severe Canavan disease (Orphanet:314911)
Severe X-linked intellectual deficit, Gustavson type (Orphanet:3078)
Severe achondroplasia - developmental delay - acanthosis nigricans (Orphanet:85165)
Severe intellectual deficit - epilepsy - anal anomalies - distal phalangeal hypoplasia (Orphanet:94066)
Short stature - craniofacial anomalies - genital hypoplasia (Orphanet:2994)
Short stature - heart defect - craniofacial anomalies (Orphanet:1088)
Short stature - intellectual deficit - eye anomalies - cleft lip/palate (Orphanet:2649)
Short stature - webbed neck - heart disease (Orphanet:2865)
Short stature - wormian bones - dextrocardia (Orphanet:2863)
Short-limb skeletal dysplasia with severe combined immunodeficiency (Orphanet:935)
Shoulder and girdle defects - familial intellectual deficit (Orphanet:2580)
Shprintzen-Goldberg syndrome (Orphanet:2462)
Shwachman-Diamond syndrome (Orphanet:811)
Sialidosis type 1 (Orphanet:812)
Sialidosis type 2 (Orphanet:87876)
Silver-Russell syndrome (Orphanet:813)
Simpson-Golabi-Behmel syndrome (Orphanet:373)
Sjögren-Larsson syndrome (Orphanet:816)
Skeletal dysplasia - epilepsy - short stature (Orphanet:1858)
Smith-Magenis syndrome (Orphanet:819)
Solitary median maxillary central incisor syndrome (Orphanet:2286)
Sotos syndrome (Orphanet:821)
Spastic diplegia, infantile type (Orphanet:1680)
Spastic paraplegia - glaucoma - intellectual deficit (Orphanet:2818)
Spastic paraplegia - nephritis - deafness (Orphanet:2820)
Spastic paraplegia - precocious puberty (Orphanet:2826)
Spastic paraplegia type 2 (Orphanet:99015)
Spastic tetraplegia - retinitis pigmentosa - intellectual deficit (Orphanet:3011)
Spasticity - intellectual deficit - X-linked epilepsy (Orphanet:3175)
Spinocerebellar ataxia - dysmorphism (Orphanet:1185)
Splenogonadal fusion - limb defects - micrognathia (Orphanet:2063)
Spondylo-ocular syndrome (Orphanet:85194)
Spondyloepimetaphyseal dysplasia with joint laxity (Orphanet:93359)
Spondyloepimetaphyseal dysplasia with multiple dislocations (Orphanet:93360)
Sternal malformation - vascular dysplasia (Orphanet:3195)
Stickler syndrome type 1 (Orphanet:90653)
Stimmler syndrome (Orphanet:3199)
Sturge-Weber syndrome (Orphanet:3205)
Subaortic stenosis - short stature (Orphanet:3191)
Symmetrical thalamic calcifications (Orphanet:1314)
Symptomatic form of Coffin-Lowry syndrome in female carriers (Orphanet:276630)
Syndromic X-linked ichthyosis (Orphanet:281090)
Syndromic X-linked intellectual deficit 7 (Orphanet:85274)
Syndromic X-linked intellectual deficit due to JARID1C mutation (Orphanet:85279)
Syngnathia multiple anomalies (Orphanet:3262)
Synostosis - microcephaly - scoliosis (Orphanet:3268)
Tay-Sachs disease (Orphanet:845)
Temtamy syndrome (Orphanet:1777)
Tetrasomy 12p (Orphanet:884)
Tetrasomy 18p (Orphanet:3307)
Tetrasomy X (Orphanet:9)
Thanatophoric dysplasia (Orphanet:2655)
Thanatophoric dysplasia type 1 (Orphanet:1860)
Thanatophoric dysplasia type 2 (Orphanet:93274)
Thoracic dysplasia-hydrocephalus syndrome (Orphanet:1861)
Thumb deformity - alopecia - pigmentation anomaly (Orphanet:2251)
Thumb stiffness - brachydactyly - intellectual deficit (Orphanet:1078)
Thyroid ectopia (Orphanet:95712)
Thyroid hypoplasia (Orphanet:95720)
Toluene embryopathy (Orphanet:1920)
Townes-Brocks syndrome (Orphanet:857)
Transient congenital hypothyroidism (Orphanet:178045)
Treacher-Collins syndrome (Orphanet:861)
Trichodental syndrome (Orphanet:3351)
Trichodermal syndrome - intellectual deficit (Orphanet:3360)
Trichomegaly - retina pigmentary degeneration - dwarfism (Orphanet:3363)
Trigonocephaly - bifid nose - acral anomalies (Orphanet:3368)
Trigonocephaly - short stature - developmental delay (Orphanet:3369)
Trisomy 12p (Orphanet:1699)
Trisomy 13 (Orphanet:3378)
Trisomy 17p (Orphanet:261290)
Trisomy 18 (Orphanet:3380)
Trisomy 20p (Orphanet:261318)
Trisomy 4p (Orphanet:1738)
Trisomy 5p (Orphanet:1742)
Trisomy 8q (Orphanet:1752)
Trisomy 9p (Orphanet:236)
Trisomy X (Orphanet:3375)
Trisomy Xq28 (Orphanet:1762)
Tuberous sclerosis (Orphanet:805)
Turner syndrome (Orphanet:881)
Ulna hypoplasia - intellectual deficit (Orphanet:2249)
Upper limb defect - eye and ear abnormalities (Orphanet:2489)
Urban-Rogers-Meyer syndrome (Orphanet:3409)
Usher syndrome (Orphanet:886)
Usher syndrome type 1 (Orphanet:231169)
Uveal coloboma - cleft lip and palate - intellectual deficit (Orphanet:1473)
VACTERL with hydrocephalus (Orphanet:3412)
Van den Bosch syndrome (Orphanet:3417)
Ventricular extrasystoles with syncopal episodes - perodactyly - Robin sequence (Orphanet:3201)
Vici syndrome (Orphanet:1493)
Visceral neuropathy - brain anomalies - facial dysmorphism - developmental delay (Orphanet:73246)
Vitamin B12-responsive methylmalonic acidemia (Orphanet:28)
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)
Vogt-Koyanagi-Harada disease (Orphanet:3437)
Von Voss-Cherstvoy syndrome (Orphanet:3439)
W syndrome (Orphanet:2804)
WAGR syndrome (Orphanet:893)
Waardenburg syndrome type 3 (Orphanet:896)
Walker-Warburg syndrome (Orphanet:899)
Weaver syndrome (Orphanet:3447)
Weaver-Williams syndrome (Orphanet:3448)
Weill-Marchesani syndrome (Orphanet:3449)
Weismann-Netter syndrome (Orphanet:3344)
White matter hypoplasia - corpus callosum agenesis - intellectual deficit (Orphanet:3207)
Wiedemann-Rautenstrauch syndrome (Orphanet:3455)
Williams syndrome (Orphanet:904)
Wiskott-Aldrich syndrome (Orphanet:906)
Wolf-Hirschhorn syndrome (Orphanet:280)
Wolfram syndrome 1 (OMIM:222300)
Wolman disease (Orphanet:75233)
Worster-Drought syndrome (Orphanet:3465)
Wrinkly skin syndrome (Orphanet:2834)
Wyburn-Mason syndrome (Orphanet:53719)
X-linked Charcot-Marie-Tooth disease type 2 (Orphanet:101076)
X-linked Charcot-Marie-Tooth disease type 4 (Orphanet:101078)
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 dominant chondrodysplasia, Chassaing-Lacombe type (Orphanet:163966)
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 - corpus callosum agenesis - spastic quadriparesis (Orphanet:85330)
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-choreoathetosis-abnormal behavior syndrome (Orphanet:85295)
X-linked intellectual disability-retinitis pigmentosa syndrome (Orphanet:85332)
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 non-syndromic intellectual deficit (Orphanet:777)
X-linked sideroblastic anemia - ataxia (Orphanet:2802)
X-linked spinocerebellar ataxia type 3 (Orphanet:85297)
Xeroderma pigmentosum (Orphanet:910)
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)
Zlotogora-Ogur syndrome (Orphanet:3253)
Zunich-Kaye syndrome (Orphanet:3474)