Details of Disease | DrugMAP

General Information of Disease (ID: DISIPV5F)

Disease Name	Developmental delay, language impairment, and ocular abnormalities
Disease Hierarchy	DISYKSRF: Genetic disease DISIPV5F: Developmental delay, language impairment, and ocular abnormalities
Disease Identifiers	MONDO ID MONDO_0859324 UMLS CUI C5774262 OMIM ID 620141 MedGen ID 1824035

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
ARPC4	OT0ZE01B	Strong	Autosomal dominant	[1]
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References

1	A recurrent, de novo pathogenic variant in ARPC4 disrupts actin filament formation and causes microcephaly and speech delay. HGG Adv. 2021 Nov 25;3(1):100072. doi: 10.1016/j.xhgg.2021.100072. eCollection 2022 Jan 13.