craniotubular dysplasia Ikegawa type

Term ID

DOID:0112340

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. https://pubmed.ncbi.nlm.nih.gov/33824347/

References

• OMIM:619727

Ontology

Human Disease   ( DOID:0112340 )