Search Ontology:
Human Disease
infantile hypotonia with psychomotor retardation and characteristic facies-3
- Term ID
- DOID:0060935
- Synonyms
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- 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
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- MIM:616900
- ORDO:488632
- UMLS_CUI:C5567480
- Ontology
- Human Disease ( DOID:0060935 )
- is a type of
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Genes Involved
Zebrafish Models