autosomal recessive spondylocostal dysostosis

Findings

No curated finding names autosomal recessive spondylocostal dysostosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.

Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.

Where it sits

A kind of

• autosomal recessive disease
• disorder of fucoglycosan synthesis
• spondylocostal dysostosis

Narrower terms (5)

• spondylocostal dysostosis 1, autosomal recessive
• spondylocostal dysostosis 2, autosomal recessive
• spondylocostal dysostosis 3, autosomal recessive
• spondylocostal dysostosis 4, autosomal recessive
• spondylocostal dysostosis 6, autosomal recessive

Resolves to: autosomal recessive spondylocostal dysostosis

Also called

Jarcho-Levin syndromespondylocostal dysostosis, autosomal recessive