Lissencephaly 2 (LIS2)

Alias:
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
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
1-9/100000
22
161
13

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
Journal
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IF
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