Details of Disease | DrugMAP

General Information of Disease (ID: DISXI2L2)

Disease Name	Brachycephaly, trichomegaly, and developmental delay
Synonyms	Macinnes syndrome; BTDD; brachycephaly, trichomegaly, and developmental delay
Definition	BTDD is an autosomal dominant disorder characterized by brachycephaly, trichomegaly, and developmental delay. Although it is caused by dysfunction of the ribosome, patients do not have anemia (summary by {2:Paolini et al., 2017}).
Disease Hierarchy	DISYKSRF: Genetic disease DISXI2L2: Brachycephaly, trichomegaly, and developmental delay
Disease Identifiers	MONDO ID MONDO_0044311 UMLS CUI C4479431 OMIM ID 617412 MedGen ID 1374289

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
RPS23	OTAJMUPF	Limited	Unknown	[1]
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References

1	Structural Abnormalities in the Hair of a Patient with a Novel Ribosomopathy. PLoS One. 2016 Mar 16;11(3):e0149619. doi: 10.1371/journal.pone.0149619. eCollection 2016.