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GTR Home > Conditions/Phenotypes > Renal hypodysplasia/aplasia 4

Renal hypodysplasia/aplasia 4

Summary

Renal hypodysplasia/aplasia-4 (RHDA4) is characterized by bilateral renal agenesis, with severely reduced to absent amniotic fluid during pregnancy. Patients exhibit the Potter sequence, including flattened nose, ear anomalies, and receding chin, as well as limb contractures and joint dislocations in some patients (Arora et al., 2021; Al-Shamsi et al., 2022). For a general phenotypic description and discussion of genetic heterogeneity of renal hypoplasia/dysplasia, see RHDA1 (191830). [from OMIM]

Available tests

1 test is in the database for this condition.

Clinical tests (1 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: GDNFR, GDNFR-alpha-1, GDNFRA, GFR-ALPHA-1, GFRalpha-1, RET1L, RETL1, RHDA4, TRNR1, GFRA1
    Summary: GDNF family receptor alpha 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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