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GM3 synthase deficiency

Synonyms
SALT AND PEPPER MENTAL RETARDATION SYNDROME; Salt and pepper developmental regression syndrome; Salt and pepper syndrome

Summary

Excerpted from the GeneReview: GM3 Synthase Deficiency
Early clinical features of GM3 synthase deficiency include infantile onset of severe irritability with feeding difficulties, early and intractable seizures, growth failure with acquired microcephaly, sensorineural hearing impairment, hypotonia, and poor visual function. Over time, affected individuals experience severe-to-profound developmental delay and intellectual disability, can develop dystonia with hyperkinetic movements, and may develop pigmentary skin changes of the hands and feet. Affected individuals often have frequent ear infections and pneumonia without evidence of immune dysfunction.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Vincent Cruz
Baozhong Xin
Heng Wang
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Available tests

31 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (31 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: SATI, SIAT9, SIATGM3S, SPDRS, ST3Gal V, ST3GalV, ST3GAL5
    Summary: ST3 beta-galactoside alpha-2,3-sialyltransferase 5

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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