Genetics

SPINK5 gene

SRD5A3 gene

How are genetic conditions diagnosed

Otopalatodigital syndrome type 2

MYH9-related disorder

BICD2 gene

Megalencephalic leukoencephalopathy with subcortical cysts

Osteopetrosis

JAK2 gene

Weill-Marchesani syndrome

PAX3 gene

EPG5 gene