615065.1.2

Country

Morocco

HPO Terms

Distal arthrogryposis; Flexion contracture of finger; Limited knee flexion; Abnormality of the tarsal bones; Congenital hip dislocation; Ptosis; Open mouth; Hyperlordosis; 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.1679+7G>T	2		Arthrogryposis, Distal, Type 5D

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Remarks

Sibling of 615065.1.1

References

Dieterich et al. 2013

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
615065.1.1	Morocco	Distal arthrogryposis; Flexion contracture of finger; Limited knee flexion; Abnormality of the tarsal bones; Congenital hip dislocation; Ptosis; Hyperlordosis; Decreased muscle mass	Male	Yes	Yes