Details of Disease | DrugMAP

General Information of Disease (ID: DISTCF37)

Disease Name	Neurodevelopmental disorder with motor and speech delay and behavioral abnormalities
Disease Hierarchy	DIS372XH: Neurodevelopmental disorder DISTCF37: Neurodevelopmental disorder with motor and speech delay and behavioral abnormalities
Disease Identifiers	MONDO ID MONDO_0859176 UMLS CUI C5561954 OMIM ID 619470 MedGen ID 1794164

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
TMEM222	OTWFLPK2	Strong	Autosomal recessive	[1]
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References

1	Biallelic variants in TMEM222 cause a new autosomal recessive neurodevelopmental disorder. Genet Med. 2021 Jul;23(7):1246-1254. doi: 10.1038/s41436-021-01133-w. Epub 2021 Apr 6.