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GTR Home > Conditions/Phenotypes > Neurodevelopmental disorder with poor language and loss of hand skills

Neurodevelopmental disorder with poor language and loss of hand skills

Summary

NDPLHS is an autosomal dominant disorder characterized by developmental stagnation or regression apparent in the first years of life and manifest as loss of purposeful hand movements, loss of language, and intellectual disability. Additional features may include stereotypic movements, dystonia, gait abnormalities, sleep disturbances, and small hands and feet. The phenotype is reminiscent of Rett syndrome (RTT; 312750) (summary by Yoo et al., 2017). [from OMIM]

Available tests

9 tests are in the database for this condition.

Clinical tests (9 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: DEE59, EIEE59, GABABR2, GPR51, GPRC3B, HG20, HRIHFB2099, NDPLHS, GABBR2
    Summary: gamma-aminobutyric acid type B receptor subunit 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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