208085.4.1

Country

Saudi Arabia

HPO Terms

Fetal distress; Cutis laxa; Ichthyosis; Prominent occiput; Jaundice; Hepatomegaly; Generalized hypotonia; Elbow flexion contracture; Contractures of the joints of the lower limbs; Contractures of the joints of the upper limbs; Hip dislocation; Cholestasis; Osteopenia; Polyuria; Metabolic acidosis; Hypernatremia; Nephrogenic diabetes insipidus; Hypoplasia of the corpus callosum; Failure to thrive; Diarrhea

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Sex

Male

Parental Consanguinity

Yes

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_018668.4:c.700+1G>A	1	NA	Arthrogryposis, Renal Dysfunction, and Cholestasis 1
NM_018668.4:c.1312C>T	1	NA	Arthrogryposis, Renal Dysfunction, and Cholestasis 1

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Remarks

Compound heterozygous patient

References

Taha et al. 2007

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
208085.4.2	Saudi Arabia		Unknown			Parent of 208085.4.1