mental retardation, X-linked with panhypopituitarism

mental retardation, X-linked with panhypopituitarism

An extremely rare condition (OMIM:300123) characterised by mental retardation, isolated growth hormone deficiency and infantile behaviour.
 
Molecular pathology
Caused by defects of SOX3, which encodes a transcription factor that regulates embryonic development and determines cell fate.
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