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congenital muscular dystrophy with cataracts and intellectual disability
Summary
- Definition
- A congenital muscular dystrophy characterized by onset of progressive muscle weakness in early childhood with autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the INPP5K gene (607875) on chromosome 17p13.
- Super Class
- autosomal recessive disease congenital muscular dystrophy
External Links
- Disease Ontology
- DOID:0080197
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0009126 | Increased adipose tissue |
| HP:0001270 | Motor delay |
| HP:0003307 | Hyperlordosis |
| HP:0001249 | Intellectual disability |
| HP:0003676 | Progressive |
| HP:0002650 | Scoliosis |
