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Chromosome 1p36 deletion syndrome
rareA chromosomal anomaly characterized by distinctive facial dysmorphic features, hypotonia, developmental delay, intellectual disability, seizures, heart defects, hearing impairment and prenatal onset growth deficiency.
- Identifiers
- MONDO:0011929 OMIM:607872Orphanet:1606
- Also known as
- 1p telomere deletion syndrome · 1p36 deletion syndrome · 1p36 microdeletion syndrome · chromosome 1p36 deletion syndrome, distal, isolated cases · Del(1)(p36)
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