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SDJLABA
MCID: SKL033
MIFTS: 12
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Skeletal Dysplasia, Mild, with Joint Laxity and Advanced Bone Age (SDJLABA)
Categories:
Bone diseases, Genetic diseases
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Aliases & Classifications for Skeletal Dysplasia, Mild, with Joint Laxity and Advanced Bone...
MalaCards integrated aliases for Skeletal Dysplasia, Mild, with Joint Laxity and Advanced Bone Age:
Name: Skeletal Dysplasia, Mild, with Joint Laxity and Advanced Bone Age
56
6
Classifications: |
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OMIM :
56
CSGALNACT1 deficiency is characterized by mild skeletal dysplasia, joint hypermobility, and advanced bone age. Shortness of long bones is evident prenatally, and patients exhibit short stature and relative macrocephaly. Advanced carpotarsal bone age and monkey-wrench appearance of the femur observed in infancy may disappear with age (Mizumoto et al., 2020). (618870)
MalaCards based summary : Skeletal Dysplasia, Mild, with Joint Laxity and Advanced Bone Age, is also known as sdjlaba. An important gene associated with Skeletal Dysplasia, Mild, with Joint Laxity and Advanced Bone Age is CSGALNACT1 (Chondroitin Sulfate N-Acetylgalactosaminyltransferase 1). Affiliated tissues include bone. |
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MalaCards organs/tissues related to Skeletal Dysplasia, Mild, with Joint Laxity and Advanced Bone Age:40
Bone
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Articles related to Skeletal Dysplasia, Mild, with Joint Laxity and Advanced Bone Age:
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Genes related to Skeletal Dysplasia, Mild, with Joint Laxity and Advanced Bone Age (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Skeletal Dysplasia, Mild, with Joint Laxity and Advanced Bone Age:6
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Search
GEO
for disease gene expression data for Skeletal Dysplasia, Mild, with Joint Laxity and Advanced Bone Age.
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