Acrocallosal Syndrome (ACLS)

Acrocallosal综合征(来自ICD-11)

别称:

Joubert Syndrome 12

Schinzel Acrocallosal Syndrome

Acls

Hallux Duplication, Postaxial Polydactyly, and Absence of Corpus Callosum

Acrocallosal Syndrome, Schinzel Type

Schinzel Syndrome 1

Acs

Hallux Duplication Postaxial Polydactyly and Absence of Corpus Callosum

Acrocallosal Syndrome;

Jbts12

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基础信息

疾病表征

基因 & 突变

靶点药物

疾病模型

文献报道

Acrocallosal Syndrome, also known as joubert syndrome 12, is related to hydrolethalus syndrome 2 and polydactyly, postaxial, type a1, 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 Signal Transduction and Loss of Nlp from mitotic centrosomes. Affiliated tissues include brain and bone, and related phenotypes are aplasia/hypoplasia of the corpus callosum and macrocephaly.

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