Monosomy 18q

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Monosomy 18q

Synonyms: 18q deletion syndrome | 18q- syndrome | Deletion 18q

Monosomy 18q is a partial deletion of the long arm of chromosome 18 characterized by highly variable phenotype most commonly including hypotonia developmental delay short stature growth hormone deficiency hearing loss and external ear anomalies intellectual disability palatal defects dysmorphic facial features skeletal anomalies (foot deformities tapering fingers scoliosis) and mood disorders.

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: // Data version September 2023.

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Monosomy 18q?

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