Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures
Disease ID: disease_node_16479
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| Dbxref | MIM:620029 |
|---|---|
| Subclassof | DOID_0060307 |
| Data Source | DOID |
| Synonyms | NEDHLSS |
| Doid Label | neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures |
| Doid Description | An autosomal domit 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. There may be a distinction between patients with truncation mutations and those without, with the more severe phenotypes corresponding to the latter. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_16479 |
| Doid Id | DOID_0070536 |
| Label | Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Intellectual Developmental Disorder(ID:disease_node_16455) (Disease)