mental retardation X-linked SYP-related

A form of mental retardation (OMIM:300802) characterised by significantly subaverage general intellectual functioning associated with impairments in adaptive behaviour, which is manifested during the developmental period.

Molecular pathology
Caused by defects of STP, which encodes an integral membrane protein of small synaptic vesicles in the brain and neuroendocrine cells.

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