Bjornstad syndrome
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. [ http://purl.obolibrary.org/obo/ECO_0007636 ]
Term info
Bjornstad syndrome
- BJS
- PTD
- deafness-pili torti-hypogonadism syndrome
OMIM mapping confirmed by DO. [SN].
disease_ontology
DOID:0050677