Details of Disease | DrugMAP

General Information of Disease (ID: DISM070O)

Disease Name	Harel-Yoon syndrome
Synonyms	Harel-Yoon syndrome; HAYOS; HAYOS; Harel-Yoon syndrome; optic atrophy-peripheral neuropathy-developmental delay syndrome
Definition	A syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, truncal hypotonia, spasticity, and peripheral neuropathy.
Disease Hierarchy	DISYOKTG: Mendelian neurodevelopmental disorder DISM070O: Harel-Yoon syndrome
Disease Identifiers	MONDO ID MONDO_0014958 UMLS CUI C4310677 OMIM ID 617183 MedGen ID 934644 Orphanet ID 496790 SNOMED CT ID 1172586007

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
ATAD3A	OTWF6HBP	Definitive	Semidominant	[1]
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References

1	Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes. Am J Hum Genet. 2016 Oct 6;99(4):831-845. doi: 10.1016/j.ajhg.2016.08.007. Epub 2016 Sep 15.