Human genes for occipital horn syndrome
Occipital horn syndrome [DOID:0111272]
A metal metabolism disorder characterized by hyperelastic and bruisable skin, hernias, bladder diverticula, hyperextensible joints, varicosities, abnormal copper transport, and multiple skeletal abnormalities that has_material_basis_in X-linked recessive inheritance of mutations in ATP7A on Xq21.1. This disorder is allelic to Menkes disease.
Synonyms: occipital horn syndrome, DOID:0111272, occipital horn disease, occipital horn disorder, occipital horn syndromes ...