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Lamb-Shaffer Syndrome ( LAMSHF ) - MalaCards
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Webb100 Followers, 301 Following, 14 Posts - See Instagram photos and videos from toa.lamb-shaffer.japan (@toa16lss) It is made by sequencing the SOX5 gene responsible for the cells that facilitate information transferring in the brain. Symptoms of Lamb-Shaffer syndrome include fine and gross motor delays, speech delay, global developmental delay,hypotonia and issues with vision, commonly … Visa mer Lamb-Shaffer syndrome is a rare autosomal dominant condition. Less than 40 cases have been reported by 2024. Visa mer Clinical features include • Global developmental delay • Significant speech delay • Hypotonia Visa mer How this mutation causes the clinical picture is not currently clear. Visa mer There is currently no curative treatment for this condition. Supportive management is all that is currently available. Visa mer This is a rare condition with a prevalence of < 1/10 . The total number of cases reported to date is <40. Visa mer This condition is caused by mutations in the SRY-related HMG-box (SOX5) gene. This gene encodes a protein in the family of transcription factors involved in the regulation of … Visa mer The diagnosis may be suspected on the basis of the constellation of clinical features but may only be determined by a genetic test. The full exome sequencing test is used to determine the partial deletion, deletion,or mutation to the SOX5 gene. It is made by … Visa mer teacher csp