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Harel-Yoon syndrome

Disease Summary
Associated Targets (1)
Tbio

1


Uniprot Description A syndrome characterized by global developmental delay, hypotonia, intellectual disability, and axonal neuropathy. Some patients have optic atrophy and hypertrophic cardiomyopathy. HAYOS inheritance can be autosomal dominant or autosomal recessive.
Mondo Term and Equivalent IDs
MONDO:0014958:  Harel-Yoon syndrome
UMLS:C4310677: