Lissencephaly 2 malady

Genetic diseases, Rare diseases, Neuronal diseases, Cardiovascular diseases, Skin diseases, Fetal diseases categories

Aliases & Classifications for Lissencephaly 2

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45OMIM, 10diseasecard, 41NIH Rare Diseases, 20GeneTests, 22GTR, 47Orphanet, 60UMLS, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
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Lissencephaly 2, Aliases & Descriptions:

Name: Lissencephaly 2 45 10 41 20 22
Lissencephaly Syndrome, Norman-Roberts Type 41 47 60
Microlissencephaly Type a 41 47
Lissencephaly Syndrome Norman-Roberts Type 41
Norman Roberts Lissencephaly Syndrome 41
Lis2 41


Characteristics (Orphanet epidemiological data):

lissencephaly syndrome, norman-roberts type:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal

External Ids:

OMIM45 257320
Orphanet47 89844
MESH via Orphanet34 C537848
ICD10 via Orphanet26 Q04.3
UMLS via Orphanet61 C0796089

Summaries for Lissencephaly 2

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NIH Rare Diseases:41 Lissencephaly 2 is an inherited condition characterized by classical lissencephaly in association with certain abnormalities of the skull and facial (craniofacial) region, such as a low, sloping forehead; abnormal prominence of the back portion of the head (occiput); a broad, prominent nasal bridge; and widely set eyes (ocular hypertelorism). additional symptoms and findings typically include severe or profound intellectual disability, seizures, abnormally increased muscle tone (hypertonia), exaggerated reflexes (hyperreflexia), and severe growth failure. this condition is inherited in an autosomal recessive fashion. mutations in the reln gene have been identified in some affected individuals. last updated: 1/24/2012

MalaCards based summary: Lissencephaly 2, also known as lissencephaly syndrome, norman-roberts type, is related to lissencephaly 1 and x-linked lissencephaly with abnormal genitalia, and has symptoms including autosomal recessive inheritance, microcephaly and sloping forehead. An important gene associated with Lissencephaly 2 is RELN (reelin). Affiliated tissues include eye, brain and cortex.

Wikipedia:63 Lissencephaly 2, more commonly called Norman?Roberts syndrome, is a rare form of lissencephaly caused by... more...

Description from OMIM:45 257320

Related Diseases for Lissencephaly 2

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Diseases in the Lissencephaly family:

Lissencephaly 5 Lissencephaly 3
Lissencephaly 1 lissencephaly 2
Lissencephaly 4 Dcx-Related Lissencephaly
Lissencephaly Due to Tuba1a Mutation Lissencephaly Due to Lis1 Mutation

Diseases related to Lissencephaly 2 via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1lissencephaly 110.2
2x-linked lissencephaly with abnormal genitalia10.2
4langerhans-cell histiocytosis10.0

Symptoms for Lissencephaly 2

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Symptoms by clinical synopsis from OMIM:


Clinical features from OMIM:


HPO human phenotypes related to Lissencephaly 2:

(show all 6)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 microcephaly HP:0000252
3 sloping forehead HP:0000340
4 prominent nasal bridge HP:0000426
5 type i lissencephaly HP:0006818
6 thick cerebral cortex HP:0006891

Drugs & Therapeutics for Lissencephaly 2

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Drug clinical trials:

Search ClinicalTrials for Lissencephaly 2

Search NIH Clinical Center for Lissencephaly 2

Genetic Tests for Lissencephaly 2

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Genetic tests related to Lissencephaly 2:

id Genetic test Affiliating Genes
1 Lissencephaly 220 22 RELN

Anatomical Context for Lissencephaly 2

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MalaCards organs/tissues related to Lissencephaly 2:

Eye, Brain, Cortex, Skin

Animal Models for Lissencephaly 2 or affiliated genes

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Publications for Lissencephaly 2

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Variations for Lissencephaly 2

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Clinvar genetic disease variations for Lissencephaly 2:

id Gene Variation Type Significance SNP ID Assembly Location
1RELNRELN, IVS37AS, G-A, -1single nucleotide variantPathogenic
2RELNRELN, 148-BP DELdeletionPathogenic

Expression for genes affiliated with Lissencephaly 2

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Search GEO for disease gene expression data for Lissencephaly 2.

Pathways for genes affiliated with Lissencephaly 2

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Compounds for genes affiliated with Lissencephaly 2

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GO Terms for genes affiliated with Lissencephaly 2

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Products for genes affiliated with Lissencephaly 2

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Lissencephaly 2

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26ICD10 via Orphanet
34MESH via Orphanet
46OMIM via Orphanet
56SNOMED-CT via Orphanet
61UMLS via Orphanet