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Renal agenesis
- ... in people with a disorder called bifid nose, renal agenesis, and anorectal malformations syndrome, sometimes called BNAR. These ... the cleft nasal cartilage (bifid nose), missing kidneys (renal agenesis), narrowed or misplaced anal opening (anorectal malformations), and ...
- ... of one of the kidneys (a condition called renal agenesis). The FRAS1 gene mutations involved in CAKUT typically ... affect the FRAS/FREM complex or lead to renal agenesis and other CAKUT is unknown. extracellular matrix protein ...
- ... a failure of one kidney to develop (unilateral renal agenesis), hearing loss, and mirror movements of the hands ( ...
- ... affect the FRAS/FREM complex or lead to renal agenesis and other CAKUT is unknown. DKFZp686J0811 ECM3 homolog ...
- ... urinary system but without the eye problems of renal coloboma syndrome (described above). The urinary system abnormalities vary in severity and are grouped together as ...
- ... explains why most people with SLC4A1-associated distal renal tubular acidosis do not have blood cell abnormalities. However, some altered AE1 proteins cannot be helped ...
- ... maturity-onset diabetes of the young (MODY) called renal cysts and diabetes (RCAD) syndrome (described above). Other features of 17q12 deletion syndrome include abnormalities of the urinary tract and reproductive system, delayed ...
- ... 1; ATP6V1B1 NCBI Gene ClinVar ... M, Fonda C, Bigozzi M, Genuardi M, Giglio S, Pela I. Inner ear abnormalities in four patients with dRTA and SNHL: clinical ...
- ... 4; ATP6V0A4 NCBI Gene ClinVar ... M, Fonda C, Bigozzi M, Genuardi M, Giglio S, Pela I. Inner ear abnormalities in four patients with dRTA and SNHL: clinical ...
- ... megalin protein. However, it is unclear how these abnormalities result in the specific signs and symptoms of the disorder.A condition previously classified as a separate disorder called facio-oculo-acoustico-renal (FOAR) syndrome has also been found to be ...