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autosomal recessive intellectual developmental disorder 61
Summary
- Synonym
-
- Alwadei syndrome
- autosomal recessive intellectual developmental disorder-61
- autosomal recessive mental retardation 61
- Definition
- An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the RUN and SH3 domain containing 2 gene (RUSC2) on chromosome 9p13.
- Super Class
- autosomal recessive intellectual developmental disorder
External Links
- Disease Ontology
- DOID:0080239
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q8N2Y8 | AP-4 complex accessory subunit RUSC2 |
