19p13.13 microdeletion syndrome

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Synonyms: Del(19)(p13.13) | Monosomy 19p13.13

A rare partial autosomal monosomy characterized by global developmental delay moderate intellectual disability macrocephaly overgrowth hypotonia and facial dysmorphism (frontal bossing down-slanting palpebral fissures). Other associated features variably include ataxia seizures ventriculomegaly ocular abnormalities (strabismus optic nerve hypoplasia) and gastrointestinal problems (abdominal pain vomiting constipation).

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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19p13.13 microdeletion syndrome?

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