brachycephaly, trichomegaly, and developmental delay

Term ID

DOID:0070415

Synonyms

• BTDD
• Macinnes syndrome
• MCINS

Definition

A syndrome characterized by brachycephaly, trichomegaly, and developmental delay, without anemia, that has_material_basis_in heterozygous mutation in the RPS23 gene on chromosome 5q14. https://pubmed.ncbi.nlm.nih.gov/28257692/

References

• OMIM:617412

Ontology

Human Disease   ( DOID:0070415 )