Details of Disease | DrugMAP

General Information of Disease (ID: DISX5ADI)

Disease Name	Macrocephaly, acquired, with impaired intellectual development
Synonyms	MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT; MACID; Macrocephaly, Acquired, With Mental Retardation
Disease Hierarchy	DISYKSRF: Genetic disease DISX5ADI: Macrocephaly, acquired, with impaired intellectual development
Disease Identifiers	MONDO ID MONDO_0032658 UMLS CUI C4748993 OMIM ID 618286 MedGen ID 1648471

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
NFIB	OTX94PD0	Strong	Autosomal dominant	[1]
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References

1	NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly. Am J Hum Genet. 2018 Nov 1;103(5):752-768. doi: 10.1016/j.ajhg.2018.10.006.