Term Name: | infantile hypotonia with psychomotor retardation and characteristic facies-3 |
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Synonyms: | HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3, IHPRF3, TBCK-related intellectual disability syndrome |
Definition: | 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. |
Ontology: | Human Disease [DOID:0060935] ( DOID:0060935 ) |