1p36 deletion syndrome
|
(Orphanet:1606)
|
Aicardi syndrome
|
(Orphanet:50)
|
Allan-Herndon-Dudley syndrome
|
(Orphanet:59)
|
Beta-ureidopropionase deficiency
|
(Orphanet:65287)
|
Cardiofaciocutaneous syndrome
|
(Orphanet:1340)
|
D-2-hydroxyglutaric aciduria
|
(Orphanet:79315)
|
Megalocornea-intellectual deficit syndrome
|
(Orphanet:2479)
|
Microphthalmia with brain and digit anomalies
|
(Orphanet:139471)
|
Monosomy 18q
|
(Orphanet:1600)
|
Monosomy 22q13
|
(Orphanet:48652)
|
Neurological conditions associated with aminoacylase 1 deficiency
|
(Orphanet:137754)
|
Recombinant 8 syndrome
|
(Orphanet:96167)
|
Rhizomelic chondrodysplasia punctata
|
(Orphanet:177)
|
Spondyloepimetaphyseal dysplasia, Bieganski type
|
(Orphanet:168448)
|
Thrombocytopenia - absent radius
|
(Orphanet:3320)
|
Vitamin B12-unresponsive methylmalonic acidemia
|
(Orphanet:27)
|