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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Disease Browser
Parent Node: Lissencephaly (D054082)
..Starting node ..Norman Roberts lissencephaly syndrome (C537848)
Child Nodes:
Sister Nodes:
..Classical Lissencephalies and Subcortical Band Heterotopias (D054221) 5
..Cobblestone Lissencephaly (D054222) 8
..Fryns-Aftimos Syndrome (C565258)
..Kuzniecky syndrome (C538091)
..Lissencephaly 3 (C566908)
..Lissencephaly Type III and Bone Dysplasia (C563383)
..Lissencephaly, Familial, with Cleft Palate and Cerebellar Hypoplasia (C565781)
..Massa Casaer Ceulemans syndrome (C536031)
..Norman Roberts lissencephaly syndrome (C537848)
..PACHYGYRIA WITH MENTAL RETARDATION, SEIZURES, AND ARACHNOID CYSTS (OMIM:600176)
..Pachygyria, frontotemporal (C538092)
..Partial lissencephaly (C536298)
..Winter Harding Hyde syndrome (C536712)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

8126

Name:

Norman Roberts lissencephaly syndrome

Definition:

Alternative IDs:

OMIM:257320

ParentIDs:

MESH:D054082

TreeNumbers:

C10.500.507.450.499/C537848 |C16.131.666.507.450.499/C537848

Synonyms:

LIS2 |Lissencephaly 2 |Lissencephaly syndrome, Norman-Roberts type |NORMAN-ROBERTS SYNDROME

Slim Mappings:

Congenital abnormality|Nervous system disease

Reference:

MedGen: C537848
MeSH: C537848
OMIM: 257320;

Genes: RELN;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0006818	4-layered lissencephaly
3	HP:0000252	Microcephaly
4	HP:0000426	Prominent nasal bridge
5	HP:0000340	Sloping forehead
6	HP:0006891	Thick cerebral cortex

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar	Disease_hgmd
NG_011877.1:g.440858G>A	5649	RELN	Pathogenic	869320767	RCV000210930;	N	MedGen:C0796089,OMIM:257320,ORPHA:89844	7	103194106	103194106	NM_005045.3:c.5969+1G>A			-	C0796089 257320 Lissencephaly 2