Megalencephaly

Orpha code: 2477OMIM code: 248000

Definition

A rare central nervous system malformation characterized by an abnormally large brain, accompanied by abnormal head circumference measurements evident at birth or developing over the first years of life. The condition can be unilateral or bilateral and affects males more often than females. There is no typical pattern of symptoms, but mental retardation, seizures, and other neurologic abnormalities have been reported.

Disease data
Classification

Malformation syndrome

Synonyms
Macroencephaly
Macrencephaly
ORPHA code
2477
OMIM code
248000
ICD10 code
Q04.5
ICD11 code
LA05.1

No additional description.

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