Congenital malformations, deformations and chromosomal abnormalities
Congenital malformations of the urinary system
Autosomal recessive
3q22.1
Nephronophthisis, an autosomal recessive cystic kidney disease, is the most frequent monogenic cause of renal failure in childhood. nephronophthisis-3 is caused by homozygous or compound heterozygous mutation in the NPHP3 gene on chromosome 3q22. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 604387.1 | Saudi Arabia | Female | Hepatic fibrosis; Hypothyroidism Hepatic fibrosis; Hypothyroidism  | NM_153240.5:c.3420_3421insA | Homozygous | Autosomal, Recessive | Monies et al. 2019 |