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Reach

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Anatomy
Cell types
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synpolydactyly type 2

MONDO:0011984Mondo

Open in the graph

Findings

No curated finding names synpolydactyly type 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Genes

1 gene

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.

FBLN1HGNC:3600
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2020
- Limited · G2P · Autosomal recessive · 2025
- Limited · PanelApp Australia · Autosomal dominant · 2025
- Limited · PanelApp Australia · Autosomal recessive · 2025

Where it sits

A kind of: non-syndromic polydactyly
non-syndromic synpolydactyly
polydactyly-syndactyly-triphalangism

Other names

6 names

Resolves to: synpolydactyly type 2

Also called: SD2, Debeer typeSD2bSPD, Debeer typeSPD2synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostosessynpolydactyly, Debeer type