3-methylglutaconic aciduria type 4
|
(Orphanet:67048)
|
AXENFELD-RIEGER SYNDROME, TYPE 3
|
(OMIM:602482)
|
Aicardi syndrome
|
(Orphanet:50)
|
Alström syndrome
|
(Orphanet:64)
|
Atherosclerosis - deafness - diabetes - epilepsy - nephropathy
|
(Orphanet:1192)
|
Autosomal dominant Opitz G/BBB syndrome
|
(Orphanet:306588)
|
Axenfeld anomaly
|
(Orphanet:98978)
|
Cerebro-oculo-nasal syndrome
|
(Orphanet:66625)
|
Chondrodysplasia - disorder of sex development
|
(Orphanet:1422)
|
Congenital amegakaryocytic thrombocytopenia
|
(Orphanet:3319)
|
Congenital lactic acidosis, Saguenay-Lac-St. Jean type
|
(Orphanet:70472)
|
Craniosynostosis - Dandy-Walker malformation - hydrocephalus
|
(Orphanet:1538)
|
Frontonasal dysplasia with alopecia and genital anomaly
|
(Orphanet:228390)
|
Gómez-López-Hernández syndrome
|
(Orphanet:1532)
|
Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1
|
(Orphanet:137681)
|
IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES
|
(OMIM:615966)
|
IRIDOGONIODYSGENESIS, TYPE 1
|
(OMIM:601631)
|
Joubert syndrome
|
(Orphanet:475)
|
Joubert syndrome 1
|
(OMIM:213300)
|
Joubert syndrome 13
|
(OMIM:614173)
|
Joubert syndrome 17
|
(OMIM:614615)
|
Joubert syndrome 2
|
(OMIM:608091)
|
Joubert syndrome 21
|
(OMIM:615636)
|
Joubert syndrome 3
|
(OMIM:608629)
|
Joubert syndrome 4
|
(OMIM:609583)
|
Joubert syndrome 5
|
(OMIM:610188)
|
Joubert syndrome 6
|
(OMIM:610688)
|
Joubert syndrome with hepatic defect
|
(Orphanet:1454)
|
Joubert syndrome with ocular defect
|
(Orphanet:220493)
|
Joubert syndrome with orofaciodigital defect
|
(Orphanet:2754)
|
Joubert syndrome with renal defect
|
(Orphanet:220497)
|
Leber congenital amaurosis 2
|
(OMIM:204100)
|
Lissencephaly due to TUBA1A mutation
|
(Orphanet:171680)
|
MEGDEL syndrome
|
(Orphanet:352328)
|
MELAS
|
(Orphanet:550)
|
Maternally-inherited diabetes and deafness
|
(Orphanet:225)
|
Mowat-Wilson syndrome
|
(Orphanet:2152)
|
Nephronophthisis 14
|
(OMIM:614844)
|
Nephronophthisis 15
|
(OMIM:614845)
|
OROFACIODIGITAL SYNDROME VI
|
(OMIM:277170)
|
Opitz G/BBB syndrome
|
(Orphanet:2745)
|
PONTOCEREBELLAR HYPOPLASIA, TYPE 1C
|
(OMIM:616081)
|
PONTOCEREBELLAR HYPOPLASIA, TYPE 2C
|
(OMIM:612390)
|
PORETTI-BOLTSHAUSER SYNDROME
|
(OMIM:615960)
|
Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis
|
(Orphanet:65288)
|
Phosphoserine aminotransferase deficiency
|
(Orphanet:284417)
|
Pontocerebellar hypoplasia type 6
|
(Orphanet:166073)
|
SECKEL SYNDROME 1
|
(OMIM:210600)
|
SRD5A3-CDG
|
(Orphanet:324737)
|
Seckel syndrome
|
(Orphanet:808)
|
Short rib-polydactyly syndrome, Majewski type
|
(Orphanet:93269)
|
Short-rib thoracic dysplasia 10 with or without polydactyly
|
(OMIM:615630)
|
Short-rib thoracic dysplasia 6 with or without polydactyly
|
(OMIM:263520)
|
Simpson-Golabi-Behmel syndrome
|
(Orphanet:373)
|
TARP syndrome
|
(Orphanet:2886)
|
Vici syndrome
|
(Orphanet:1493)
|
Zechi-Ceide syndrome
|
(Orphanet:217017)
|