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Level 2: Developmental disorders
Version 11.26
Latest signed off version: v11.0
(12 Aug 2026)
Component of the following Super Panels:
Hypotonic infant
Leukodystrophy, childhood onset
Paediatric disorders
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review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- Expert Review Green
- ClinGen
Phenotypes
- Chromosome 1q21.1 duplication syndrome
- ncomplete penetrance and variable expression characterized by macrocephaly, developmental delay, intellectual disability, psychiatric disturbances (autism spectrum disorder, attention deficit hyperactivity disorder, schizophrenia, mood disorders) and mild facial dysmorphism (high forehead, hypertelorism). Other associated features include congenital heart defects, hypotonia, short stature, scoliosis
- 612475
- 1q21.1 microduplication syndrome
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