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.