|
hypotonia, infantile, with psychomotor retardation and characteristic facies 1; IHPRF1
|
http://purl.obolibrary.org/obo/MONDO_0024567 |
|
|
hypotonia, infantile, with psychomotor retardation and characteristic facies caused by mutation in NALCN
|
24567 |
|
|
Cafe-au-Lait spots with pulmonic stenosis
|
D009456 |
|
|
spinocerebellar ataxia with rigidity and peripheral neuropathy
|
8456 |
|
|
3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia
|
14561 |
|
|
3-METHYLGLUTACONIC aciduria with cataracts, neurologic involvement, and neutropenia
|
14561 |
|
|
3-METHYLGLUTACONIC aciduria with cataracts, neurologic involvement, and neutropenia; MEGCANN
|
http://purl.obolibrary.org/obo/MONDO_0014561 |
|
|
17-beta-hydroxysteroid dehydrogenase x deficiency
|
C564560 |
|
