Term Name:	Bjornstad syndrome
Synonyms:	BJS, deafness-pili torti-hypogonadism syndrome, PTD
Definition:	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.
Ontology:	Human Disease [DOID:0050677]   ( DOID:0050677 )