Lissencephaly 2 (LIS2)

Lissencephaly 2(来自ICD-11)

别称:

Norman-Roberts Syndrome

Lissencephaly Syndrome, Norman-Roberts Type

Lissencephaly with Cerebellar Hypoplasia

Cobblestone Lissencephaly

Lis2

Lch

Lissencephaly Type 2

Lissencephaly 3

Lissencephaly Syndrome Norman-Roberts Type

Norman-Roberts Lissencephaly Syndrome

Norman Roberts Lissencephaly Syndrome

Lissencephaly Syndrome Type 2

Lissencephaly, Cobblestone

Microlissencephaly Type a

Type Ii Lissencephaly

Lissencephaly, Type 2

Lis3

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Lissencephaly 2, also known as norman-roberts syndrome, is related to lissencephaly 3 and muscular dystrophy-dystroglycanopathy , type a, 4, and has symptoms including ataxia and seizures. An important gene associated with Lissencephaly 2 is RELN (Reelin), and among its related pathways/superpathways are Cell Cycle, Mitotic and Loss of Nlp from mitotic centrosomes. Affiliated tissues include brain and cortex, and related phenotypes are intellectual disability and hypertelorism

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