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Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome

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Description

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).

OMIM

  • Mode of Inheritance

  • Autosomal recessive inheritance

VARIANTS

56

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Genes

External Links

  • OMIM

    615328

  • Orphanet

    363523

  • HPO
  • Medgen

    C3809160

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