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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:0003306 | Spinal rigidity |
| HP:0001263 | Global developmental delay |
| HP:0007126 | Proximal amyotrophy |
| HP:0000518 | Cataract |
| HP:0003593 | Infantile onset |
| HP:0002093 | Respiratory insufficiency |
| HP:0000252 | Microcephaly |
| HP:0002808 | Kyphosis |
| HP:0003701 | Proximal muscle weakness |
| HP:0001250 | Seizure |
