Microlissencephaly

General Information (adopted from Orphanet):

Synonyms, Signs: LISSENCEPHALY 4, WITH MICROCEPHALY
LIS4
Number of Symptoms 20
OrphanetNr: 1083
OMIM Id: 614019
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: Lissencephaly
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000252) Microcephaly 832 / 7739
2
 (HPO:0001250) Seizures variable [HPO:skoehler] 1245 / 7739
3
 (HPO:0002187) Intellectual disability, profound 44 / 7739
4
 (HPO:0001327) Photomyoclonic seizures 125 / 7739
5
 (HPO:0001276) Hypertonia rare [HPO:skoehler] 317 / 7739
6
 (HPO:0001263) Global developmental delay 853 / 7739
7
 (HPO:0004322) Short stature rare [HPO:skoehler] 1232 / 7739
8
 (HPO:0001510) Growth delay 295 / 7739
9
 (HPO:0009879) Cortical gyral simplification 24 / 7739
10
 (OMIM) Reduced numbers of neurons 1 / 7739
11
 (OMIM) Abnormal cortical layering 1 / 7739
12
 (OMIM) Small shrunken brain 1 / 7739
13
 (OMIM) Thin cerebral cortex 1 / 7739
14
 (HPO:0001339) Lissencephaly 30 / 7739
15
 (OMIM) Small cerebellum 6 / 7739
16
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
17
 (HPO:0001274) Agenesis of corpus callosum 142 / 7739
18
 (OMIM) Microcephaly, profound (at least 10 SD below mean) 1 / 7739
19
 (HPO:0003577) Congenital onset 133 / 7739
20
 (OMIM) Simplified gyral pattern 11 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Lissencephaly-4 is an autosomal recessive neurodevelopmental disorder characterized by lissencephaly, severe brain atrophy, extreme microcephaly (head circumference of more than 10 standard deviations (SD) below the mean), and profound mental retardation. It has also been referred to as ...
Clinical Description OMIM Bakircioglu et al. (2011) reported 6 offspring from 3 consanguineous families with lissencephaly, extreme congenital microcephaly, and profound mental retardation. Two families were of Pakistani origin, and the third was of Turkish origin. The head circumferences of all ...
Molecular genetics OMIM By linkage analysis followed by candidate gene sequencing, Bakircioglu et al. (2011) identified 2 different truncating mutations in the NDE1 gene (609449.0001 and 609449.0002, respectively) in affected members of 3 consanguineous families with lissencephaly-4. The disorder showed dual ...