Details of Disease | DrugMAP

General Information of Disease (ID: DISE7FZJ)

Disease Name	Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly
Disease Hierarchy	DIS372XH: Neurodevelopmental disorder DISE7FZJ: Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly
Disease Identifiers	MONDO ID MONDO_0859298 UMLS CUI C5774232 OMIM ID 620075 MedGen ID 1824005

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
TMEM147	OTMKZ4PV	Strong	Autosomal recessive	[1]
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References

1	Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders. JAMA Psychiatry. 2017 Mar 1;74(3):293-299. doi: 10.1001/jamapsychiatry.2016.3798.