Lissencephaly due to TUBA1A mutation

General Information (adopted from Orphanet):

Synonyms, Signs: LIS3
Number of Symptoms 26
OrphanetNr: 171680
OMIM Id: 611603
ICD-10: Q04.3
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: < 15 cases [Orphanet]
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

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:0001251) Ataxia 413 / 7739
3
(HPO:0010864) Intellectual disability, severe 120 / 7739
4
(HPO:0001270) Motor delay 322 / 7739
5
(HPO:0002510) Spastic tetraplegia 54 / 7739
6
(HPO:0001250) Seizures 1245 / 7739
7
(HPO:0010547) Muscle flaccidity 466 / 7739
8
(HPO:0001324) Muscle weakness 859 / 7739
9
(HPO:0008947) Infantile muscular hypotonia 482 / 7739
10
(HPO:0001252) Muscular hypotonia 990 / 7739
11
(OMIM) Mental retardation, severe to profound 4 / 7739
12
(HPO:0007227) Macrogyria 9 / 7739
13
(HPO:0002119) Ventriculomegaly 253 / 7739
14
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
15
(HPO:0001320) Cerebellar vermis hypoplasia 57 / 7739
16
(OMIM) Abnormal hippocampus 2 / 7739
17
(OMIM) Absence or hypoplasia of the anterior limb of the internal capsule 1 / 7739
18
(HPO:0002079) Hypoplasia of the corpus callosum 161 / 7739
19
(HPO:0001274) Agenesis of corpus callosum 142 / 7739
20
(HPO:0002365) Hypoplasia of the brainstem 41 / 7739
21
(HPO:0001339) Lissencephaly 30 / 7739
22
(HPO:0002282) Heterotopia 21 / 7739
23
(HPO:0002126) Polymicrogyria 64 / 7739
24
(OMIM) Hooked aspect of the frontal horn of the lateral ventricles due to abnormally shaped basal ganglia 1 / 7739
25
(OMIM) Subcortical laminar heterotopia 1 / 7739
26
(HPO:0001302) Pachygyria 60 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Keays et al. (2007) and Poirier et al. (2007) reported 2 unrelated children with lissencephaly. One patient had microcephaly, pachygyria, an abnormally shaped corpus callosum, and hypoplasia of the cerebellar vermis and brainstem. Clinical features included severe mental ...
Molecular genetics OMIM In 2 unrelated patients with LIS3, Keays et al. (2007) and Poirier et al. (2007) identified 2 different de novo heterozygous mutations in the TUBA1A gene (602529.0001; 602529.0002).

Poirier et al. (2007) identified de novo heterozygous ...