208085.1.1

Palestine

Renal Fanconi syndrome; Reduced number of intrahepatic bile ducts; Failure to thrive; Skeletal muscle atrophy

Unknown

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_018668.4:c.403+1G>A	2	NA	Arthrogryposis, Renal Dysfunction, and Cholestasis 1

Patient from pedigree '24' in the publication

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
208085.1.2	Palestine	Renal Fanconi syndrome; Failure to thrive	Unknown		Yes	Relative of 208085.1.1
208085.1.3	Palestine	Renal Fanconi syndrome; Nephrogenic diabetes insipidus; Neonatal cholestatic liver disease; Arthrogryposis multiplex congenita; Failure to thrive; Diarrhea	Unknown		Yes	Relative of 208085.1.1