Crane-Heise Syndrome

Crane-Heise Syndrome(来自ICD-11)
别称:
Cleft Lip/palate, Agenesis of Clavicles and Cervical Vertebrae, and Talipes Equinovarus
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Basic Information
Medical Symptom
Gene & Mutation
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References Literature
Crane-Heise Syndrome, also known as cleft lip/palate, agenesis of clavicles and cervical vertebrae, and talipes equinovarus, is related to spondylocostal dysostosis 1, autosomal recessive and cleft palate, isolated. An important gene associated with Crane-Heise Syndrome is FGD1 (FYVE, RhoGEF And PH Domain Containing 1). Affiliated tissues include bone, and related phenotypes are depressed nasal bridge and hypertelorism
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基础信息

遗传方式
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参考文献
MALACARDS
AR
Antenatal
<1/1000000
1
3
3

疾病表征

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靶点药物

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疾病模型

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MGI
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