|
SPASTIC ATAXIA 9, AUTOSOMAL RECESSIVE
|
32753 |
|
|
spastic ataxia 9, autosomal recessive
|
32753 |
|
|
LEBER CONGENITAL AMAUROSIS 19
|
32794 |
|
|
SHORT STATURE, AMELOGENESIS IMPERFECTA, AND SKELETAL DYSPLASIA WITH SCOLIOSIS
|
32703 |
|
|
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 27
|
32706 |
|
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2EE
|
32728 |
|
|
Immunodeficiency and Autoimmunity, Bach2-Related
|
32723 |
|
|
Mental Retardation, Autosomal Dominant 59
|
32795 |
|
|
Mental Retardation, Autosomal Recessive 69
|
32715 |
|
|
Mental Retardation, Autosomal Recessive 70
|
32729 |
|
|
Mental Retardation, Autosomal Recessive 71
|
32789 |
|
|
CEREBELLAR, OCULAR, CRANIOFACIAL, AND GENITAL SYNDROME
|
32774 |
|
|
GLOBAL DEVELOPMENTAL DELAY, PROGRESSIVE ATAXIA, AND ELEVATED GLUTAMINE
|
32733 |
|
|
MITOCHONDRIAL DNA DEPLETION SYNDROME 16 (HEPATIC TYPE)
|
32799 |
|
