Details of Disease | DrugMAP

General Information of Disease (ID: DISZTBVI)

Disease Name	Hypotonia, ataxia, and delayed development syndrome
Synonyms	hypotonia, ataxia, and delayed development syndrome; HADDS; hypotonia, ataxia, and delayed development syndrome; HADDS
Disease Hierarchy	DISYKSRF: Genetic disease DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability DISZTBVI: Hypotonia, ataxia, and delayed development syndrome
Disease Identifiers	MONDO ID MONDO_0015021 UMLS CUI C4310618 OMIM ID 617330 MedGen ID 934585

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
EBF3	OTB0IWLW	Definitive	Autosomal dominant	[1]
------------------------------------------------------------------------------------

References

1	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.