Search Ontology:
Human Disease

infantile hypotonia with psychomotor retardation and characteristic facies-3

Term ID
DOID:0060935
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. (3)
References
Ontology
Human Disease   ( DOID:0060935 )
Relationships
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Genes Involved
Zebrafish Models