Term Name: infantile hypotonia with psychomotor retardation and characteristic facies-3
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 )

Relationships
is a type of: autosomal recessive intellectual developmental disorder