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Siddiqi syndrome

Synonyms
DEAFNESS, DYSTONIA, DEVELOPMENTAL DELAY, AND POOR GROWTH

Summary

Siddiqi syndrome (SIDDIS) is an autosomal recessive disorder characterized by global developmental delay, early-onset progressive sensorineural hearing impairment, regression of motor skills, dystonia, poor overall growth, and low body mass index (BMI). More variable features may include ichthyosis-like skin abnormalities or sensory neuropathy (summary by Zazo Seco et al., 2017). [from OMIM]

Available tests

1 test is in the database for this condition.

Clinical tests (1 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: C20orf142, Fit2, SIDDIS, dJ881L22.2, FITM2
    Summary: fat storage inducing transmembrane protein 2

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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