|
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES
|
32755 |
|
|
NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND NONEPILEPTIC HYPERKINETIC MOVEMENTS
|
32784 |
|
|
NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND SPEECH AND WALKING IMPAIRMENT
|
32775 |
|
|
CEREBELLAR ATROPHY WITH SEIZURES AND VARIABLE DEVELOPMENTAL DELAY
|
32788 |
|
|
MYOPATHY, CONGENITAL, WITH TREMOR
|
32797 |
|
|
DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL IMPAIRMENT AND BEHAVIORAL ABNORMALITIES
|
32745 |
|
|
Glutaminase Deficiency With Impaired Intellectual Development and Progressive Ataxia
|
32733 |
|
|
17-beta-hydroxysteroid dehydrogenase X deficiency
|
10327 |
|
|
17-BETA-hydroxysteroid dehydrogenase X deficiency
|
http://purl.obolibrary.org/obo/MONDO_0010327 |
|
|
mental retardation, X-linked syndromic 10
|
10327 |
|
|
mental retardation, X-linked, syndromic 10
|
10327 |
|
|
mental retardation, X-linked, syndromic type 10
|
10327 |
|
|
exfoliation syndrome; XFS
|
http://purl.obolibrary.org/obo/MONDO_0008327 |
|
|
leber congenital amaurosis 6
|
C565327 |
|
|
short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis
|
32703 |
|
