Spondylocostal Dysostosis (SCDO)

Alias:

Jarcho-Levin Syndrome

Spondylothoracic Dysostosis

Spondylothoracic Dysplasia

Dysostosis, Spondylocostal

Costovertebral Dysplasia

Scdo

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Spondylocostal Dysostosis, also known as jarcho-levin syndrome, is related to spondylocostal dysostosis 5 and spondylocostal dysostosis, autosomal recessive. An important gene associated with Spondylocostal Dysostosis is LFNG (LFNG O-Fucosylpeptide 3-Beta-N-Acetylglucosaminyltransferase), and among its related pathways/superpathways are Nervous system development and Signal Transduction. Affiliated tissues include spinal cord and bone, and related phenotypes are nervous system and growth/size/body region

Related ID：

MALACARDS：SPN016