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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:0100840 | Aplasia/Hypoplasia of the eyebrow |
| HP:0005105 | Abnormal nasal morphology |
| HP:0200012 | Short corpus callosum |
| HP:0011842 | Abnormal skeletal morphology |
| HP:0001019 | Erythroderma |
| HP:0008689 | Bilateral cryptorchidism |
| HP:0002079 | Hypoplasia of the corpus callosum |
| HP:0000047 | Hypospadias |
| HP:0003623 | Neonatal onset |
| HP:0000729 | Autistic behavior |
