Details of Disease | DrugMAP

General Information of Disease (ID: DIS972PH)

Disease Name	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies
Synonyms	NDMSBA; neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies
Disease Hierarchy	DIS2BIP8: Congenital nervous system disorder DISYOKTG: Mendelian neurodevelopmental disorder DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability DIS972PH: Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies
Disease Identifiers	MONDO ID MONDO_0060502 UMLS CUI C4479631 OMIM ID 617527 MedGen ID 1380260 Orphanet ID 521426 SNOMED CT ID 1217367007

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
PLAA	OTZ7NJGA	Strong	Autosomal recessive	[1]
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References

1	Phospholipase A2-activating protein is associated with a novel form of leukoencephalopathy. Brain. 2017 Feb;140(2):370-386. doi: 10.1093/brain/aww295. Epub 2016 Dec 21.