Megalencephaly

Orpha code: 2477OMIM code: 248000

Definicja

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
Klasyfikacja

Malformation syndrome

Synonimy
Macroencephaly
Macrencephaly
Kod ORPHA
2477
Kod OMIM
248000
Kod ICD10
Q04.5
Kod ICD11
LA05.1

No additional description.

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