Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
LM-GlycoRepo
Repository for lectin-assisted multimodality data
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Harel-Yoon syndrome
Summary
- Synonym
-
- 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.
- Super Class
- autosomal dominant disease autosomal recessive disease syndrome
External Links
- Disease Ontology
- DOID:0081395
- Mondo Disease Ontology
- ORDO
- OMIM
