nuclear type mitochondrial complex I deficiency 12
nuclear type mitochondrial complex I deficiency 30
occipital horn syndrome
oculocerebrorenal syndrome +
Opitz GBBB syndrome
orofaciodigital syndrome VIII
osteogenesis imperfecta type 19
Paganini-Miozzo syndrome
partial androgen insensitivity syndrome
Partington syndrome
Pelizaeus-Merzbacher disease +
A hypomyelinating leukodystrophy characterized by impaired myelin formation, nystagmus, spastic quadriplegia, ataxia, and developmental delay that has_material_basis_in mutation in the PLP1 gene on chromosome Xq22. (DO)