Aprosencephaly cerebellar dysgenesis

Orpha code: 1126OMIM code: 601374

Definition

A rare genetic non-syndromic central nervous system malformation characterized by absence of the telencephalon and absent or abnormal diencephalic structures, combined with severe abnormalities of the mesencephalon and cerebellum. Further malformations, for example of the hands and feet, have been described in addition.

Disease data
Classification

Malformation syndrome

ORPHA code
1126
OMIM code
601374
ICD10 code
Q04.3
ICD11 code
LA05.Y

No additional description.

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