Human genes for DOORS syndrome
DOORS syndrome [DOID:0111627]
A syndrome characterized by sensorineural deafness, onychodystrophy, osteodystrophy, seizures, and intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in TBC1D24 on chromosome 16p13.3.
Synonyms: DOORS syndrome, DOID:0111627, DOORS disease, DOORS disorder, DOORS syndromes ...