Aprosencephaly cerebellar dysgenesis

Orpha code: 1126OMIM code: 601374

Definicja

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
Klasyfikacja

Malformation syndrome

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

No additional description.

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