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MIRAGE
neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures
Summary
- Synonym
-
- NEDHLSS
- Definition
- An autosomal dominant intellectual developmental disorder characterized by behavioral abnormalities and developmental delay ranging from mild-to-moderate impaired intellectual development with expressive language delay to severly impaired intellectual development, severe hypotonia with delayed walking or inability to walk, and poor or absent speech that has_material_basis_in heterozygous mutation in the CACNA1C gene on chromosome 12p13.33.
- Super Class
- autosomal dominant intellectual developmental disorder
External Links
- Disease Ontology
- DOID:0070536
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q13936 | Voltage-dependent L-type calcium channel subunit alpha-1C |
