Klippel-feil Syndrome 1, Autosomal Dominant disease: Malacards - Research Articles, Symptoms, Drugs, Genes, Clinical Trials

Summaries for Klippel-feil Syndrome 1, Autosomal Dominant

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⁴⁷OMIM, ³³MalaCards
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MalaCards: Klippel-feil Syndrome 1, Autosomal Dominant, also known as congenital cervical vertebral fusion, is related to klippel-feil syndrome and kallmann syndrome, and has symptoms including short neck, autosomal recessive inheritance and scoliosis. An important gene associated with Klippel-feil Syndrome 1, Autosomal Dominant is GDF6 (growth differentiation factor 6), and among its related pathways is TGF-beta Signaling Pathway. Related mouse phenotypes are adipose tissue and growth/size.

Description from OMIM:⁴⁷ 118100,214300,613702

MCID: KLP007 MIFTS: 24	Klippel-feil Syndrome 1, Autosomal Dominant malady Bone, Fetal categories
25 symptoms, 3 genes, 6 related diseases, clinical trials.

Klippel-feil Syndrome 1, Autosomal Dominant malady

Summaries for Klippel-feil Syndrome 1, Autosomal Dominant

Aliases & Classifications for Klippel-feil Syndrome 1, Autosomal Dominant

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Related Diseases for Klippel-feil Syndrome 1, Autosomal Dominant

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Clinical Features for Klippel-feil Syndrome 1, Autosomal Dominant

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Drugs & Therapeutics for Klippel-feil Syndrome 1, Autosomal Dominant

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Expression for genes affiliated with Klippel-feil Syndrome 1, Autosomal Dominant

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