Neurology · Neurology / Neurogenetics; Child psychiatry
Phelan–McDermid syndrome
also: 22q13 deletion syndrome
Neurodevelopmental disorder with SHANK3 haploinsufficiency.
- Specialty
- Neurology
- Subspecialty
- Neurology / Neurogenetics; Child psychiatry
- Sex & age distribution
- Male: affected; Female: affected equally; Children: yes, from infancy
- Gene(s) involved
- SHANK3
- Alternative names & eponyms
- 22q13 deletion syndrome
Etiology & mechanism
SHANK3 loss.
Gene(s) involved (1)
Symptoms & signs (4)
In plain terms, someone with Phelan–McDermid 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.
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Shares symptoms with
2 shared
Brain–lung–thyroid syndrome
developmental delay, hypotonia
2 shared
Joubert syndrome
developmental delay, hypotonia
2 shared
Kabuki syndrome
developmental delay, hypotonia
2 shared
Kleefstra syndrome
absent speech, hypotonia
2 shared
Potocki–Lupski syndrome
autism, hypotonia
2 shared
Ritscher–Schinzel syndrome
developmental delay, hypotonia
2 shared
Sotos syndrome
developmental delay, hypotonia
2 shared
Timothy syndrome
autism, developmental delay
1 shared
Aicardi syndrome
developmental delay
1 shared
Allan–Herndon–Dudley syndrome
hypotonia
Shares genes with
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