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nemaline myopathy 9
Summary
- Synonym
-
- NEM9
- Definition
- A nemaline myopathy characterized by onset in early infancy of muscle weakness with variable severity that has_material_basis_in homozygous or compound heterozygous mutation in the KLHL41 gene on chromosome 2q31.
- Super Class
- autosomal recessive disease nemaline myopathy
External Links
- Disease Ontology
- DOID:0110929
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O60662 | Kelch-like protein 41 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000047 | Hypospadias |
| HP:0000054 | Micropenis |
| HP:0000239 | Large fontanelles |
| HP:0000369 | Low-set ears |
| HP:0000602 | Ophthalmoplegia |
| HP:0000765 | Abnormal thorax morphology |
| HP:0000775 | Abnormality of the diaphragm |
| HP:0000883 | Thin ribs |
| HP:0001181 | Adducted thumb |
| HP:0001270 | Motor delay |
