A rare developmental defect during embryogenesis syndrome, with characteristics of normal female karyotype, normal ovaries, male or ambiguous genitalia, urinary tract malformations (ranging from bilateral renal agenesis to mild unilateral hydronephro

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syndrome d'anomalie du développement sexuel 46,XX-anomalies anorectales

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A rare genetic syndrome with characteristics of severe developmental delay, neonatal hypotonia, seizures, optic nerve hypoplasia and distinct central nervous system malformations including extensive bilateral polymicrogyria, dysplastic or absent corp

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polymicrogyrie avec hypoplasie du nerf optique

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Syndrome with characteristics of nasopalpebral lipomas, bilateral eyelid coloboma, and telecanthus. It has been described in less than 30 patients. Other manifestations may include maxillary hypoplasia, hypertelorism, and dysmorphic features. It is t

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syndrome de lipomes naso-palpébraux-colobome

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D'autres ont cherché : essbach renal hypoplasia renal hypoplasia renal hypoplasia bilateral renal hypoplasia unilateral bilateral renal cortical necrosis cortical necrosis hypoplasia of kidney renal cortical necrosis renal hypoplasia bilateral

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'renal hypoplasia bilateral' ->

Date index: 2024-04-24