about
A gene for autosomal recessive spondylocostal dysostosis maps to 19q13.1-q13.3A cluster of autosomal recessive spondylocostal dysostosis caused by three newly identified DLL3 mutations segregating in a small villageEvidence for variable gene expression in a large inbred kindred with autosomal recessive spondylocostal dysostosis.Canine disorder mirrors human disease: exonic deletion in HES7 causes autosomal recessive spondylocostal dysostosis in miniature Schnauzer dogs.Molecular genetic prenatal diagnosis for a case of autosomal recessive spondylocostal dysostosis
P921
name
autosomal recessive spondylocostal dysostosis
@en
dysostose spondylo-costale autosomique récessive
@fr
type
label
autosomal recessive spondylocostal dysostosis
@en
dysostose spondylo-costale autosomique récessive
@fr
altLabel
Costovertebral Dysplasia
@en
Jarcho-Levin Syndrome
@en
SCDO1
@en
SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE
@en
SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE; SCDO1
@en
Spondylothoracic Dysostosis
@en
Spondylothoracic Dysplasia
@en
Vertebral Anomalies
@en
spondylocostal dysostosis, autosomal recessive
@en
prefLabel
autosomal recessive spondylocostal dysostosis
@en
dysostose spondylo-costale autosomique récessive
@fr
P2892
P492
P1199
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P2293
P2888
P2892
P4229
P492
P5270
MONDO:0010180