Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Disease ID: disease_node_16507
Connections displayed (default: 10).
Loading graph...
| Dbxref | MIM:613443 |
|---|---|
| Subclassof | DOID_0060307 |
| Data Source | DOID |
| Synonyms | MRD20, autosomal dominant mental retardation 20, mental retardation, autosomal dominant 20 |
| Doid Label | neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language |
| Doid Description | An autosomal domit intellectual developmental disorder that is characterized by global developmental delay with hypotonia, poor motor development with limited walking, impaired intellectual development with poor or absent speech, and behavioral abnormalities and that has_material_basis_in an autosomal domit mutation of the MEF2C gene on chromosome 5q14.3. |
| Disease Node Id | disease_node_16507 |
| Doid Id | DOID_0070050 |
| Label | Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Intellectual Developmental Disorder(ID:disease_node_16455) (Disease)