Distal deletion 1q

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Distal deletion 1q

Synonyms: Distal monosomy 1q | Monosomy 1qter | Telomeric deletion 1q

A rare chromosomal anomaly characterized by an intellectual deficiency progressive microcephaly seizures growth delay distinct facial dysmorphic features and various midline defects including cardiac corpus callosum gastro-oesophalgeal and urogenital anomalies.

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 September 2023.

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Distal deletion 1q?

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