Developmental Delay with Hypotonia, Myopathy, and Brain Abnormalities
Neuromuscular Disease
Long Qt Syndrome
Immunodeficiency 47
Myopathy
Parkinson Disease, Late-Onset
Cerebral Amyloid Angiopathy, Itm2b-Related, 1
Smith-Mccort Dysplasia 1
Dyggve-Melchior-Clausen Disease
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant