NPHP3-related Meckel-like syndrome

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NPHP3-related Meckel-like syndrome

Synonyms: Goldston syndrome | Meckel syndrome type 7 | Meckel-like syndrome type 1 | Renal-hepatic-pancreatic dysplasia-Dandy-Walker cysts syndrome

NPHP3-related Meckel-like syndrome is a rare genetic syndromic renal malformation characterized by cystic renal dysplasia with or without prenatal oligohydramnios central nervous system abnormalities (commonly Dandy-Walker malformation) congenital hepatic fibrosis and absence of polydactyly.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version April 2024

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NPHP3-related Meckel-like syndrome?

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