Details of Disease | DrugMAP

General Information of Disease (ID: DISM5BRZ)

Disease Name	Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies
Synonyms	NEDMABA; NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES
Disease Hierarchy	DISYOKTG: Mendelian neurodevelopmental disorder DISM5BRZ: Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies
Disease Identifiers	MONDO ID MONDO_0032838 UMLS CUI C5231431 OMIM ID 618622 MedGen ID 1684840

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
SMPD4	TTZSJIV	Strong	Autosomal recessive	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SMPD4	OTQ681DT	Strong	Autosomal recessive	[1]
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References

1	Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis. Am J Hum Genet. 2019 Oct 3;105(4):689-705. doi: 10.1016/j.ajhg.2019.08.006. Epub 2019 Sep 5.