craniotubular dysplasia Ikegawa type (DOID:0112340)
Alliance: disease page
Synonyms: CTDI
Alt IDs: OMIM:619727
Definition: A craniodiaphyseal dysplasia characterized by childhood-onset short stature in association with macrocephaly, dolichocephaly, or prominent forehead that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM53 gene on chromosome 1p34.1.