mental retardation, autosomal dominant, type 5
mental retardation, autosomal dominant, type 5A form of mental retardation (OMIM:612621) characterised by significantly sub-average general intellectual functioning associated with impaired adaptive behaviour, which first appears in childhood, and accompanied by global developmental delay, delayed motor development, hypotonia, mental retardation, language impairment and, in some, autism.
Caused by defects of SYNGAP1, which encodes a major component of the postsynaptic density, a group of proteins associated with NMDA receptors at synapses.
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