208085.3

Country

Saudi Arabia

HPO Terms

Renal Fanconi syndrome; Nephrogenic diabetes insipidus; Neonatal cholestatic liver disease; Arthrogryposis multiplex congenita; Failure to thrive; Conjugated hyperbilirubinemia; Appendicular hypotonia; Cutis laxa; Ichthyosis; Abnormal platelet granules; Tibial bowing; Low-set ears; Micrognathia; Proximal placement of thumb

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Sex

Unknown

Parental Consanguinity

Yes

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_018668.4:c.350del	2	NA	Arthrogryposis, Renal Dysfunction, and Cholestasis 1

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Remarks

Patient from pedigree '30' in the publication

References

Gissen et al. 2006