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ENLamb-Shaffer Syndrome (LAMSHF)
Alias:
12p12.1 Microdeletion Syndrome
Lamshf
Developmental and Speech Delay Due to Sox5 Deficiency
Sox5 Haploinsufficiency Syndrome
Monosomy 12p12.1
Del(12)(p12.1)
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Lamb-Shaffer Syndrome, also known as 12p12.1 microdeletion syndrome, is related to cerebellar atrophy, developmental delay, and seizures and scoliosis. An important gene associated with Lamb-Shaffer Syndrome is SOX5 (SRY-Box Transcription Factor 5). Affiliated tissues include brain and tongue, and related phenotypes are intellectual disability and motor delay
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MALACARDS
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