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A rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 20 with a highly variable phenotype. Typical characteristics are global developmental delay with important speech and language deficits, intellectual disability, hypotonia, epilepsy, behavioral anomalies (for example autism spectrum disorder behaviors) and hand and feet skeletal malformations. Craniofacial dysmorphism, including microcephaly, high forehead, hypertelorism, broad nasal bridge, bulbous nasal tip, malformed ears, long philtrum, thin upper lip and microretrognathia may be occasionally associated.
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A rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 20 with a highly variable phenotype. Typical characteristics are global developmental delay with important speech and language deficits, intellectual disability, hypotonia, epilepsy, behavioural anomalies (for example autism spectrum disorder behaviours) and hand and feet skeletal malformations. Craniofacial dysmorphism, including microcephaly, high forehead, hypertelorism, broad nasal bridge, bulbous nasal tip, malformed ears, long philtrum, thin upper lip and microretrognathia may be occasionally associated.
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