Details of Disease | DrugMAP

General Information of Disease (ID: DISEXBDZ)

Disease Name	Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome
Synonyms	HADDTS; hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome
Disease Hierarchy	DISYKSRF: Genetic disease DISEXBDZ: Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome
Disease Identifiers	MONDO ID MONDO_0060666 UMLS CUI C4693578 OMIM ID 617915 MedGen ID 1647427

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
CTBP1	OTVYH2DH	Strong	Autosomal dominant	[1]
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References

1	A recurrent de novo CTBP1 mutation is associated with developmental delay, hypotonia, ataxia, and tooth enamel defects. Neurogenetics. 2016 Jul;17(3):173-8. doi: 10.1007/s10048-016-0482-4. Epub 2016 Apr 19.