distal arthrogryposis

Findings

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

Definition

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

• arthrogryposis syndrome
• hereditary disease
• muscle tissue disorder

Narrower terms (23)

• ACTC1-related distal arthrogryposis with congenital heart disease
• arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome
• arthrogryposis-ectodermal dysplasia-other anomalies syndrome
• arthrogryposis-like hand anomaly-sensorineural deafness syndrome
• arthrogryposis-severe scoliosis syndrome
• arthrogryposis, distal, IIa 11
• arthrogryposis, distal, type 12
• arthrogryposis, distal, type 1C
• arthrogryposis, distal, type 2B4
• arthrogryposis, distal, type 2E
• arthrogryposis, distal, with impaired proprioception and touch
• autism spectrum disorder - epilepsy - arthrogryposis syndrome
• congenital contractural arachnodactyly
• contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A
• digitotalar dysmorphism