|
MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC
|
DISO:OMIM |
|
|
CONGENITAL MYASTHENIC SYNDROME TYPE Ia2, FORMERLY
|
DISO:OMIM |
|
|
CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 1
|
DISO:OMIM |
|
|
CEREBELLAR ATAXIA, CONGENITAL, AND MENTAL RETARDATION, AUTOSOMAL RECESSIVE
|
DISO:OMIM |
|
|
CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 1
|
DISO:OMIM |
|
|
CEREBELLAR ATAXIA, CONGENITAL, AND MENTAL RETARDATION, AUTOSOMAL RECESSIVE
|
DISO:OMIM |
|
|
CEREBELLAR HYPOPLASIA, VLDLR-ASSOCIATED
|
DISO:OMIM |
|
|
CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 1
|
DISO:OMIM |
|
|
Speech and language disorders
|
DISO:OMIM |
|
|
Conjunctival telangiectases
|
DISO:OMIM |
|
|
Conjunctival telangiectasia
|
DISO:OMIM |
|
