|
epilepsy, benign neonatal, 1, and-or myokymia
|
C567743 |
|
|
benign familial neonatal, 1, and-or myokymia convulsions
|
C567744 |
|
|
epilepsy, benign neonatal, 1, atypical severe
|
C567745 |
|
|
benign familial neonatal, 1, atypical severe convulsions
|
C567746 |
|
|
severe congenital neutropenia-2
|
C567748 |
|
|
richieri costa pereira syndrome
|
C535677 |
|
|
concentric retinitis pigmentosa
|
C567712 |
|
|
mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay myopathy
|
C567769 |
|
|
infantile, with sensorineural deafness bartter syndrome
|
C567762 |
|
|
neuropathy, hereditary sensory, type IIA
|
C567738 |
|
|
disorder of sex development, 46,xy, cbx2-related
|
C567766 |
|
|
xy, cbx2-related sex reversal
|
C567766 |
|
|
mitochondrial HMG-CoA synthase deficiency
|
C567784 |
|
|
neurodegeneration due to cerebral folate transport deficiency
|
C567791 |
|
