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20q11.2 microdeletion syndrome
rare20q11.2 microdeletion syndrome is a rare, genetic, syndromic intellectual disability characterized by psychomotor delay, hypotonia, feeding difficulties, failure to thrive, anomalies of the hands and feet (clinodactyly, camptodactyly, brachydactyly, feet malposition), and craniofacial dysmorphism. Associated prenatal growth retardation, and gastrointestinal, heart and eye anomalies have been reported.
- Identifiers
- MONDO:0018633 Orphanet:444051
- Part of
- Multiple congenital anomalies/dysmorphic syndrome-intellectual disabilityPartial deletion of the long arm of chromosome 20
- Also known as
- Del(20)(q11.2) · monosomy 20q11
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