Autosomal Domit Intellectual Developmental Disorder 56
Disease ID: disease_node_16527
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| Dbxref | MIM:617854 |
|---|---|
| Subclassof | DOID_0060307 |
| Data Source | DOID |
| Synonyms | autosomal dominant intellectual developmental disorder-56, autosomal dominant mental retardation 56 |
| Doid Label | autosomal domit intellectual developmental disorder 56 |
| Doid Description | An autosomal domit intellectual developmental disorder that is characterized by global developmental delay, intellectual disability and in most cases hypotonia, delayed walking, poor fine motor skills, and poor or absent speech that has_material_basis_in heterozygous mutation in the CLTC gene on chromosome 17q23. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_16527 |
| Doid Id | DOID_0080226 |
| Label | Autosomal Domit Intellectual Developmental Disorder 56 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Intellectual Developmental Disorder(ID:disease_node_16455) (Disease)