Conditions / Syndrome
DOORS syndrome
info · Syndrome
A syndrome characterized by sensorineural deafness, onychodystrophy, osteodystrophy, seizures, and intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in the TBC1D24 gene on chromosome 16p13.3.
Signs and symptoms
- Hypoplastic fingernail
- Hypoplastic toenails
- Global developmental delay
- Sensorineural hearing impairment
- Polyneuropathy
- Short distal phalanx of finger
- Bulbous nose
- Gingival overgrowth
- Long philtrum
- Wide nasal bridge
Also known as: DOOR syndrome; DOORS; autosomal recessive deafness-onychodystrophy syndrome; deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome; deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome