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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
- Mondo Disease Ontology
- OMIM
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 34950 | Ca-alpha1D | Ca[2+]-channel protein alpha[[1]] subunit D |
| Gene ID | Gene Symbol | Description | Source | Organism |
|---|---|---|---|---|
| 100462911 | cacna1c.S | calcium channel, voltage-dependent, L type, alpha 1C subunit S homeolog | Xenopus laevis (African clawed frog) | |
| 100488055 | cacna1c | calcium channel, voltage-dependent, L type, alpha 1C subunit | Xenopus tropicalis (tropical clawed frog) |
