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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:0001249 | Intellectual disability |
| HP:0002353 | EEG abnormality |
| HP:0000613 | Photophobia |
| HP:0001510 | Growth delay |
| HP:0000365 | Hearing impairment |
| HP:0002209 | Sparse scalp hair |
| HP:0001156 | Brachydactyly |
| HP:0002750 | Delayed skeletal maturation |
| HP:0001252 | Hypotonia |
| HP:0000252 | Microcephaly |
