Megalencephaly

rare

A congenital abnormality in which the occipitofrontal circumference is greater than two standard deviations above the mean for a given age. It is associated with hydrocephalus; subdural effusion; arachnoid cysts; or is part of a genetic condition (e.g., alexander disease; sotos syndrome).

Identifiers: MONDO:0016608
Part of: Brain disorder Disorder of development or morphogenesis
Also known as: macroencephaly · megalencephaly (disease)

Subtypes

All diseases Rare only

Disease	ID	Genes
Bagatelle Cassidy syndrome	MONDO:0021964
Isolated megalencephaly	MONDO:0017089
Macrocephaly/megalencephaly syndrome, autosomal recessive	MONDO:0009544	TBC1D7
Megalencephaly, autosomal dominant	MONDO:0007961

Rare disease

Projects

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