Cobblestone lissencephaly without muscular or ocular involvement

General Information (adopted from Orphanet):

Synonyms, Signs: LIS5
Lissencephaly type 2 without muscular or ocular involvement
Lissencephaly type 2 without muscular or eye involvement
Cobblestone lissencephaly without muscular or eye involvement
Number of Symptoms 19
OrphanetNr: 352682
OMIM Id: 615191
ICD-10: Q04.3
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Cobblestone lissencephaly
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000256) Macrocephaly 298 / 7739
2
 (HPO:0002085) Occipital encephalocele 20 / 7739
3
 (HPO:0000648) Optic atrophy rare [HPO:skoehler] 238 / 7739
4
 (HPO:0001250) Seizures 1245 / 7739
5
 (HPO:0001263) Global developmental delay 853 / 7739
6
 (HPO:0011344) Severe global developmental delay 46 / 7739
7
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
8
 (HPO:0010547) Muscle flaccidity 466 / 7739
9
 (HPO:0001324) Muscle weakness 859 / 7739
10
 (HPO:0001252) Muscular hypotonia 990 / 7739
11
 (HPO:0007260) Type II lissencephaly 13 / 7739
12
 (OMIM) Subcortical band heterotopia 6 / 7739
13
 (HPO:0000238) Hydrocephalus 278 / 7739
14
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
15
 (HPO:0002500) Abnormality of the cerebral white matter 73 / 7739
16
 (HPO:0002281) Gray matter heterotopias 4 / 7739
17
 (HPO:0001321) Cerebellar hypoplasia 114 / 7739
18
 (HPO:0002365) Hypoplasia of the brainstem 41 / 7739
19
 (HPO:0001339) Lissencephaly 30 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Lissencephaly-5 is an autosomal recessive brain malformation characterized by cobblestone changes in the cortex, more severe in the posterior region, and subcortical band heterotopia. Affected individuals have hydrocephalus, seizures, and severely delayed psychomotor development (summary by Radmanesh et ...
Clinical Description OMIM Radmanesh et al. (2013) reported a consanguineous Egyptian family in which 3 sibs had severely delayed psychomotor development, hydrocephalus, posterior encephalocele, and cobblestone brain malformations consistent with lissencephaly. Brain imaging showed abnormal cortical gyri and sulci, white matter ...
Molecular genetics OMIM In 4 patients from 2 unrelated consanguineous families with lissencephaly-5, Radmanesh et al. (2013) identified 2 different homozygous loss-of-function mutations in the LAMB1 gene (150240.0001 and 150240.0002, respectively). Both mutations were identified by exome sequencing. The findings suggested ...