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GTR Home > Conditions/Phenotypes > Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome

Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome

Synonyms
Shaheen syndrome
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Shaheen syndrome is an autosomal recessive form of syndromic mental retardation. Affected individuals show severe intellectual disability, hypohidrosis, dental enamel hypoplasia, and hyperkeratosis of the palms and soles. Some may develop mild microcephaly (summary by Shaheen et al., 2013). [from OMIM]

Available tests

18 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (18 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CDG2L, COD2, SHNS, COG6
    Summary: component of oligomeric golgi complex 6

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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