615065.2

Country

Lebanon

HPO Terms

Distal arthrogryposis; Flexion contracture of finger; Limited knee flexion; Abnormality of the tarsal bones; Ptosis; Open mouth; Delayed speech and language development; Hyperlordosis; Scoliosis; Decreased muscle mass

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Sex

Male

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_001290787.1:c.966+1G>A	2		Arthrogryposis, Distal, Type 5D

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References

Dieterich et al. 2013