filamin-related bone disorder

Findings

No curated finding names filamin-related bone disorder yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

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

• skeletal dysplasia

Narrower terms (6)

• cardiospondylocarpofacial syndrome
• FLNB-associated autosomal dominant filamin related bone disorder
• Frank-Ter Haar syndrome
• otopalatodigital syndrome spectrum disorder
• spondylocarpotarsal synostosis syndrome
• terminal osseous dysplasia-pigmentary defects syndrome

Resolves to: filamin-related bone disorder

Also called

bone filaminopathy