Neurology · Neurology / Pediatric neurology; Neurogenetics
Angelman syndrome
also: Happy puppet syndrome (obsolete)
Severe developmental delay, ataxia and happy demeanor.
- Specialty
- Neurology
- Subspecialty
- Neurology / Pediatric neurology; Neurogenetics
- Sex & age distribution
- Male: affected; Female: affected equally; Children: yes, diagnosed in early childhood
- Gene(s) involved
- UBE3A
- Alternative names & eponyms
- Happy puppet syndrome (obsolete)
Etiology & mechanism
Loss of maternal UBE3A function at 15q11-q13.
Gene(s) involved (1)
Symptoms & signs (6)
In plain terms, someone with Angelman 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
3 shared
Cerebral folate deficiency syndrome
ataxia, microcephaly, seizures
2 shared
Action myoclonus–renal failure syndrome
ataxia, seizures
2 shared
Congenital Zika syndrome
microcephaly, seizures
2 shared
EAST syndrome
ataxia, seizures
2 shared
Galloway–Mowat syndrome
microcephaly, seizures
2 shared
Glucose transporter type 1 deficiency syndrome
ataxia, microcephaly
2 shared
Kleefstra syndrome
absent speech, microcephaly
2 shared
NARP syndrome
ataxia, seizures
2 shared
Nicolaides–Baraitser syndrome
absent speech, seizures
2 shared
Opsoclonus–myoclonus syndrome
ataxia, sleep disturbance
Shares genes with
None.
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