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Human Disease

Harel-Yoon syndrome

Term ID
DOID:0081395
Synonyms
  • Ocular anomalies-axonal neuropathy-developmental delay syndrome
Definition
A syndrome that is characterized by delayed psychomotor development, intellectual disability, truncal hypotonia, spasticity, and peripheral neuropathy and that has_material_basis_in heterozygous mutation in the ATAD3A gene on chromosome 1p36. https://pubmed.ncbi.nlm.nih.gov/27640307/
References
Ontology
Human Disease   ( DOID:0081395 )
Relationships
is a type of
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Genes Involved
Zebrafish Models