14q11.2 microduplication syndrome
Name: |
14q11.2 microduplication syndrome
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Description: |
14q11.2 microduplication syndrome is a rare chromosomal anomaly characterized by developmental delay, mild to severe intellectual disability with speech impairment and epilepsy. Additionally, it may include dysmorphic features (such as hypo- or hypertelorism, dysplastic ears, short palpebral fissures), microcephaly or macrocephaly, behavioral abnormalities, stereotyped hand movements, ataxia, hypotonia, cleft palate.
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ORPHAcode: |
261229
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Synonyms: |
Dup(14)(q11.2)
Trisomy 14q11.2
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XREF(s): | |
Analyte(s): | |
Created: |
13 May 2019 - 01:02
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Changed: |
01 May 2022 - 06:55
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