Isolated Dandy-Walker malformation

Orpha code: 217OMIM code: 220200

Definicja

A rare non-syndromic central nervous system malformation characterized by the association of three signs: hydrocephalus, partial or complete absence of the cerebellar vermis, and posterior fossa cyst contiguous with the fourth ventricle, presenting early in life with hydrocephalus, bulging occiput and posterior fossa signs such as cranial nerve palsies, nystagmus and ataxia.

Disease data
Klasyfikacja

Morphological anomaly

Kod ORPHA
217
Kod OMIM
220200
Kod ICD10
Q03.1
Kod ICD11
LA06.0

No additional description.

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