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alopecia-mental retardation syndrome 1
Summary
- Definition
- An alopecia-mental retardation syndrome that has_material_basis_in homozygous mutation in the AHSG gene on chromosome 3q27.
- Super Class
- alopecia-mental retardation syndrome autosomal recessive disease
External Links
- Disease Ontology
- DOID:0080628
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0100840 | Aplasia/Hypoplasia of the eyebrow |
| HP:0005105 | Abnormal nasal morphology |
| HP:0200012 | Short corpus callosum |
| HP:0011842 | Abnormal skeletal morphology |
