Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
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Sign InDescription
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).
Mode of Inheritance
- Autosomal recessive inheritance
VARIANTS
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