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

• OMIM:616900
• ORDO:488632
• UMLS_CUI:C5567480

Ontology

Human Disease   ( DOID:0060935 )