Klippel-Feil Syndrome 1, Autosomal Dominant (KFS1)

Alias:
Cervical Vertebral Fusion Autosomal Dominant
Kfs1
Klippel-Feil Syndrome, Type 1, Autosomal Dominant
Cervical Vertebral Fusion, Autosomal Dominant
Klippel-Feil Syndrome, Autosomal Dominant
Cervical Vertebral Fusion Congenital
Fused Cervical Segments Congenital
Congenital Klippel-Feil Segment
Isolated Klippel-Feil Syndrome
Klippel-Feil Malformation
Klippel-Feil Sequence
Kfs
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Klippel-Feil Syndrome 1, Autosomal Dominant, also known as cervical vertebral fusion autosomal dominant, is related to klippel-feil syndrome and isolated klippel-feil syndrome. An important gene associated with Klippel-Feil Syndrome 1, Autosomal Dominant is GDF6 (Growth Differentiation Factor 6). Affiliated tissues include kidney and spinal cord, and related phenotypes are short neck and abnormal vertebral segmentation and fusion
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Unknown
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3
40
19

Medical Symptom

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Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Related Drugs

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No data available

Disease Model

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Name
MGI
Related Gene
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Publications
No data available

References Literature

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