Angelman syndrome

rare

A neurogenetic disorder characterized by severe intellectual deficit and distinct facial dysmorphic features.

Identifiers: MONDO:0007113 OMIM:105830 Orphanet:72
Causal genes: UBE3A
Part of: Hereditary neurological disease Syndromic disease
Also known as: Angelman’s syndrome · AS · happy puppet syndrome (formerly) · happy puppet syndrome, formerly

Subtypes

Disease	ID	Subtypes
Angelman syndrome due to a point mutation	MONDO:0018461
Angelman syndrome due to imprinting defect in 15q11-q13	MONDO:0018462
Angelman syndrome due to maternal 15q11q13 deletion	MONDO:0020302
Angelman syndrome due to paternal uniparental disomy of chromosome 15	MONDO:0020303

Rare disease

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