|
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)
|