20q13.33 microdeletion syndrome
Synonyms: Del(20)(q13.33) | Monosomy 20q13.33
A rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 20 with a highly variable phenotype typically characterized by hypotonia intellectual disability cognitive and language deficits (including decreased or absent speech) pre and post-natal growth retardation feeding difficulties microcephaly and malformed hands and feet. Neurodevelopmental disorders (including hyperactivity social interactive problems and autism spectrum disorder) seizures and dysmorphic facial features (high forehead hypertelorism malformed ears broad nasal bridge bulbous nasal tip thin upper lip small chin) are frequently associated.
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 April 2024
Newly diagnosed with
20q13.33 microdeletion syndrome?
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