Orphanet: Cobblestone lissencephaly without muscular or ocular involvement

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Cobblestone lissencephaly without muscular or ocular involvement

Disease definition

A rare, genetic, cobblestone lissencephaly disease characterized by the presence of a constellation of brain malformations, including cortical gyral and sulcus anomalies, white matter signal abnormalities, cerebellar dysplasia and brainstem hypoplasia, existing alone or in conjunction with minimal muscular and ocular abnormalities, typically manifesting with severe developmental delay, increased head circumference, hydrocephalus and seizures.

ORPHA:352682

Classification level: Disorder

Synonym(s):
- Cobblestone lissencephaly without muscular or eye involvement
- Lissencephaly type 2 without muscular or eye involvement
- Lissencephaly type 2 without muscular or ocular involvement
Prevalence: <1 / 1 000 000
Inheritance: Autosomal recessive
Age of onset: Infancy, Childhood
ICD-10: Q04.3
OMIM: 615191
UMLS: C5191415
MeSH: -
GARD: -
MedDRA: -

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Cobblestone lissencephaly without muscular or ocular involvement

ORPHA:352682

A summary on this disease is available in Deutsch (2019) Español (2019) Français (2019) Italiano (2019) Nederlands (2019)

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