Genetics · Genetics / Chromosomal disorders
Potocki–Lupski syndrome
also: 17p11.2 duplication syndrome
Reciprocal duplication of the Smith–Magenis region.
- Specialty
- Genetics
- Subspecialty
- Genetics / Chromosomal disorders
- Sex & age distribution
- Male: affected; Female: affected, equal; Children: yes
- Gene(s) involved
- RAI1
- Alternative names & eponyms
- 17p11.2 duplication syndrome
Etiology & mechanism
RAI1 gene dosage increase.
Gene(s) involved (1)
Symptoms & signs (6)
In plain terms, someone with Potocki–Lupski syndrome may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
Drag nodes, scroll to zoom, click a node to open that syndrome.
Shares symptoms with
2 shared
Allan–Herndon–Dudley syndrome
hypotonia, intellectual disability
2 shared
Coffin–Siris syndrome
hypotonia, intellectual disability
2 shared
Cohen syndrome
hypotonia, intellectual disability
2 shared
Cri du chat syndrome
hypotonia, intellectual disability
2 shared
Crigler–Najjar syndrome
hypotonia, intellectual disability
2 shared
Down syndrome
hypotonia, intellectual disability
2 shared
Fragile X syndrome
autism, intellectual disability
2 shared
Kleefstra syndrome
hypotonia, intellectual disability
2 shared
Lowe syndrome
hypotonia, intellectual disability
2 shared
Marinesco–Sjögren syndrome
hypotonia, intellectual disability
Shares genes with
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