DISEASE: Brachycephaly, trichomegaly, and developmental delay
Entry
H02637 Disease
Name
Brachycephaly, trichomegaly, and developmental delay
Description
Brachycephaly, trichomegaly, and developmental delay (BTDD), also known as MacInnes syndrome, is a novel ribosomopathy. Mutations in RPS23 gene, which encodes a small ribosomal subunit, have been reported in patients with microcephaly, hearing loss, and overlapping dysmorphic features.
Category
Ribosomopathy
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD24 Syndromes with skeletal anomalies as a major feature
H02637 Brachycephaly, trichomegaly, and developmental delay
