Term Name:	craniotubular dysplasia Ikegawa type
Synonyms:	CTDI
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.
Ontology:	Human Disease [DOID:0112340]   ( DOID:0112340 )