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alopecia-mental retardation syndrome 4
Summary
- Definition
- An alopecia-mental retardation syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the LSS gene on chromosome 21q22.
- Super Class
- alopecia-mental retardation syndrome autosomal recessive disease
External Links
- Disease Ontology
- DOID:0080950
- Mondo Disease Ontology
- OMIM
- WikiPathways (from TogoID)
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0003577 | Congenital onset |
| HP:0000713 | Agitation |
| HP:0000750 | Delayed speech and language development |
| HP:0000054 | Micropenis |
