Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Disease ID: disease_node_16470
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| Dbxref | KEGG:H02463, MIM:619556 |
|---|---|
| Subclassof | DOID_0060307 |
| Data Source | DOID |
| Doid Label | intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies |
| Doid Description | An autosomal domit intellectual developmental disorder that is characterized by global developmental delay with impaired intellectual development and poor or absent speech, hypotonia, ophthalmologic abnormalities, and nonspecific dysmorphic features, and that has_material_basis_in heterozygous mutation in the TNPO2 gene on chromosome 19p13. |
| Disease Node Id | disease_node_16470 |
| Doid Id | DOID_0081262 |
| Label | Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Intellectual Developmental Disorder(ID:disease_node_16455) (Disease)