Distal deletion 13q
Synonyms: 13q32 deletion | Deletion 13q32 | Distal monosomy 13q | Monosomy 13q32 | Telomeric deletion 13q
Distal monosomy 13q is a rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 13 with a highly variable phenotype typically characterized by varying degrees of intellectual disability and developmental delay as well as CNS malformations (e.g. holoprosencephaly anencephaly ventriculomegaly Dandy-Walker malformation) ocular abnormalities (e.g. hypertelorism microphthalmia strabismus aniridia retinal dysplasia) and craniofacial dysmorphism (microcephaly trigonocephaly large and malformed ears broad prominent nasal bridge micrognathia). Cardiac genitourinary gastrointestinal and skeletal manifestations have also been reported.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version March 2024
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Distal deletion 13q?
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