Human genes for Bjornstad syndrome
Bjornstad syndrome [DOID:0050677]
A syndrome that is characterized by early onset of hearing loss and hair loss due to pili torti, has_material_basis_in homozygous or compound heterozygous mutation in the BCS1L gene on chromosome 2q35.
Synonyms: Bjornstad syndrome, Bjornstad disease, Bjornstad disorder, Bjornstad syndromes, DOID:0050677 ...
Linkouts: OMIM