Infantile Hypotonia With Psychomotor Retardation And Characteristic Facies-3
Disease ID: disease_node_16447
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| Dbxref | MIM:616900, ORDO:488632, UMLS_CUI:C5567480 |
|---|---|
| Subclassof | DOID_0060308 |
| Data Source | DOID |
| Synonyms | HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3, IHPRF3, TBCK-related intellectual disability syndrome |
| Doid Label | infantile hypotonia with psychomotor retardation and characteristic facies-3 |
| Doid Description | An autosomal recessive intellectual developmental disorder characterized by very poor, if any, psychomotor development, poor speech, inability to walk independently and onset at birth or in early infancy that has_material_basis_in homozygous or compound heterozygous mutation in the TBCK gene on chromosome 4q24. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_16447 |
| Doid Id | DOID_0060935 |
| Label | Infantile Hypotonia With Psychomotor Retardation And Characteristic Facies-3 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Intellectual Developmental Disorder(ID:disease_node_16368) (Disease)