Tetrasomy 9p

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Synonyms: Isochromosome 9p

Tetrasomy 9p is a rare autosomal anomaly characterized by pre- and postnatal growth retardation psychomotor delay mild to moderate intellectual disability hypotonia microcephaly dysmorphic features (ocular hypertelorism low-set malformed ears bulbous/beaked nose microretrognathia enophthalmos/micropthalmia epicanthus strabismus) cleft lip/palate skeletal abnormalities (hypoplastic nails/distal phalanges short stature short neck contractures) congenital heart defects renal and urogenital malformations (renal hypoplasia genital hypoplasia cryptorchidism).

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 http://www.orphadata.org. Data version July 2024

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Tetrasomy 9p?

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