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1.

Meacham syndrome

WT1 disorder is characterized by congenital/infantile or childhood onset of steroid-resistant nephrotic syndrome (SRNS), a progressive glomerulopathy that does not respond to standard steroid therapy. Additional common findings can include disorders of testicular development (with or without abnormalities of the external genitalia and/or müllerian structures) and Wilms tumor. Less common findings are congenital anomalies of the kidney and urinary tract (CAKUT) and gonadoblastoma. While various combinations of renal and other findings associated with a WT1 pathogenic variant were designated as certain syndromes in the past, those designations are now recognized to be part of a phenotypic continuum and are no longer clinically helpful. [from GeneReviews]

MedGen UID:
373234
Concept ID:
C1837026
Disease or Syndrome
2.

Cardiac total anomalous pulmonary venous connection

Type 2 total anomalous pulmonary venous connection. [from HPO]

MedGen UID:
866779
Concept ID:
C4021130
Anatomical Abnormality

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