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Angelman syndrome

Synonyms
HAPPY PUPPET SYNDROME; Happy puppet syndrome (formerly)
Modes of inheritance
Unknown inheritance (Orphanet)
Not genetically inherited (Orphanet)

Summary

Excerpted from the GeneReview: Angelman Syndrome
Angelman syndrome (AS) is characterized by severe developmental delay or intellectual disability, severe speech impairment, gait ataxia and/or tremulousness of the limbs, and unique behavior with an apparent happy demeanor that includes frequent laughing, smiling, and excitability. Microcephaly and seizures are also common. Developmental delays are first noted at around age six months; however, the unique clinical features of AS do not become manifest until after age one year.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Aditi I Dagli
Jennifer Mathews
Charles A Williams
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Available tests

189 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (189 available)

Cytogenetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: HCERN3, PWCR, RT-LI, SM-D, SMN, SNRNP-N, SNURF-SNRPN, sm-N, SNRPN
    Summary: small nuclear ribonucleoprotein polypeptide N

  • Also known as: ANCR, AS, E6-AP, EPVE6AP, HPVE6A, PIX1, UBE3A
    Summary: ubiquitin protein ligase E3A

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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