Term Name:	brachycephaly, trichomegaly, and developmental delay
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.
Ontology:	Human Disease [DOID:0070415]   ( DOID:0070415 )