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GTR Home > Conditions/Phenotypes > Hypotonia, infantile, with psychomotor retardation and characteristic facies 3

Hypotonia, infantile, with psychomotor retardation and characteristic facies 3

Summary

Infantile hypotonia with psychomotor retardation and characteristic facies-3 is a severe autosomal recessive neurodevelopmental disorder with onset at birth or in early infancy. Most affected individuals show very poor, if any, normal psychomotor development, poor speech, and inability to walk independently (summary by Bhoj et al., 2016). For a general phenotypic description and a discussion of genetic heterogeneity of infantile hypotonia with psychomotor retardation and characteristic facies, see IHPRF1 (615419). [from OMIM]

Available tests

20 tests are in the database for this condition.

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Clinical tests (20 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: FERRY1, Fy-1, HSPC302, IHPRF3, TBCKL, TBCK
    Summary: TBC1 domain containing kinase

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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