DISEASES

Disease-gene associations mined from literature

Human genes for Bjornstad syndrome

Bjornstad syndrome [DOID:0050677]

An autosomal recessive disease 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