Disease

Acrocallosal Syndrome

About the Disease
Acrocallosal Syndrome, also known as schinzel acrocallosal syndrome, is related to apert syndrome and hydrolethalus syndrome 2, and has symptoms including seizures An important gene associated with Acrocallosal Syndrome is KIF7 (Kinesin Family Member 7), and among its related pathways/superpathways are Loss of Nlp from mitotic centrosomes and Organelle biogenesis and maintenance. Affiliated tissues include brain, bone and skin, and related phenotypes are aplasia/hypoplasia of the corpus callosum and macrocephaly

Common Targets
KIF7 | CPLANE1 | SHH

疾病靶点研报
Acrocallosal Syndrome

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