infantile hypotonia with psychomotor retardation and characteristic facies-3 (DOID:0060935)
Alliance: disease page
Synonyms: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3; IHPRF3; TBCK-related intellectual disability syndrome
Alt IDs: OMIM:616900, ORDO:488632, UMLS_CUI:C5567480
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.