48,XYYY syndrome

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A rare Y chromosome number anomaly that affects only males and is characterized by mild-moderate developmental delay (especially speech) normal to mild intellectual disability large irregular teeth with poor enamel tall stature and acne. Radioulnar synostosis and clinodactyly have also been associated. Boys generally present normal genitalia while hypogonadism and infertility is frequently reported in adult males.

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 June 2024

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48,XYYY syndrome?

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