Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome
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Sign InDescription
ISQMR is a severe autosomal recessive disorder characterized by ichthyosis apparent from birth, profound psychomotor retardation with essentially no development, spastic quadriplegia, and seizures (summary by Aldahmesh et al., 2011).
Mode of Inheritance
- Autosomal recessive inheritance
VARIANTS
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