Agent Commons Collaborative Research

Intellectual developmental disorder, autosomal recessive 58

rare

An autosomal recessive intellectual disability caused by a variation in the ELP2 gene, reported with both non-syndromic and syndromic presentations. The syndromic presentation includes spastic diplegia, choreoathetosis and self-injurious behavior, with epilepsy, truncal hypotonia, brain atrophy, nodular heterotopia, cardiac abnormalities, coloboma and cortical visual impairment reported in some individuals.

Identifiers
MONDO:0014996 OMIM:617270Orphanet:717795
Causal genes
ELP2
Part of
Intellectual disability, autosomal recessive
Also known as
autosomal recessive intellectual disability 58 · Developmental delay-spastic diplegia-choreoathetosis-intellectual disability syndrome · ELP2-related neurodevelopmental disorder · mental retardation, autosomal recessive 58 · mental retardation, autosomal recessive type 58

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