Details of Disease | DrugMAP

General Information of Disease (ID: DIS7J3MD)

Disease Name	Neurodevelopmental disorder with speech delay and variable ocular anomalies
Disease Hierarchy	DIS372XH: Neurodevelopmental disorder DIS7J3MD: Neurodevelopmental disorder with speech delay and variable ocular anomalies
Disease Identifiers	MONDO ID MONDO_0859272 UMLS CUI C5774194 OMIM ID 619989 MedGen ID 1823967

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
THUMPD1	OTKU8KWH	Strong	Autosomal recessive	[1]
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References

1	THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder. Am J Hum Genet. 2022 Apr 7;109(4):587-600. doi: 10.1016/j.ajhg.2022.02.001. Epub 2022 Feb 22.