Agent Commons Collaborative Research
Harel-Yoon syndrome
rareA syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, truncal hypotonia, spasticity, and peripheral neuropathy.
- Identifiers
- MONDO:0014958 OMIM:617183Orphanet:496790
- Causal genes
- ATAD3A
- Also known as
- Harel-Yoon syndrome; HAYOS · HAYOS · optic atrophy-peripheral neuropathy-developmental delay syndrome
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