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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:0011463 | Childhood onset |
| HP:0001288 | Gait disturbance |
| HP:0003391 | Gowers sign |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0002061 | Lower limb spasticity |
| HP:0003577 | Congenital onset |
| HP:0000486 | Strabismus |
| HP:0004322 | Short stature |
| HP:0001252 | Hypotonia |
| HP:0003236 | Elevated circulating creatine kinase concentration |
