Occipital pachygyria and polymicrogyria

General Information (adopted from Orphanet):

Synonyms, Signs: OCCM
Occipital malformations of cortical development
Occipital MCD
Number of Symptoms 13
OrphanetNr: 280640
OMIM Id: 614115
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: Nonsyndromic cerebral malformation due to abnormal neuronal migration
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000572) Visual loss 272 / 7739
2
 (HPO:0001263) Global developmental delay rare [HPO:skoehler] 853 / 7739
3
 (HPO:0002353) EEG abnormality 188 / 7739
4
 (HPO:0011147) Typical absence seizures 33 / 7739
5
 (HPO:0002121) Absence seizures 62 / 7739
6
 (HPO:0002069) Generalized tonic-clonic seizures rare [HPO:skoehler] 96 / 7739
7
 (OMIM) Autonomic symptoms 6 / 7739
8
 (OMIM) Strabismus, transient (1 patient) 1 / 7739
9
 (OMIM) Diminished visual acuity 2 / 7739
10
 (OMIM) Polymicrogyria, occipital 1 / 7739
11
 (OMIM) Vision loss, episodic 1 / 7739
12
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
13
 (OMIM) Pachygyria, occipital 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Occipital cortical malformations (OCCM) is an autosomal recessive condition in which affected individuals develop seizures, sometimes associated with transient visual changes. Brain MRI shows both pachygyria and polymicrogyria restricted to the lateral occipital lobes. Three patients have been ...
Clinical Description OMIM Barak et al. (2011) reported 3 unrelated girls, all born of consanguineous Turkish parents, with seizures associated with occipital cortical malformations. The first girl presented at age 2 years with seizures involving loss of neck tone and consciousness. ...
Molecular genetics OMIM In a Turkish girl with seizures and occipital cortical malformations on brain imaging, Barak et al. (2011) identified a homozygous deletion in the LAMC3 gene (604349.0001). The mutation was identified by exome sequencing. Two additional girls with a ...