Polymicrogyria with optic nerve hypoplasia

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 17
OrphanetNr: 250972
OMIM Id: 613180
ICD-10:
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: Cerebral malformation with epilepsy
 -Rare genetic disease
 -Rare neurologic disease
Genetic syndrome with a central nervous system malformation as major feature
 -Rare genetic disease
Other syndrome with a central nervous system malformation as major feature
 -Rare developmental defect during embryogenesis
 -Rare neurologic disease
Rare genetic intellectual deficit with developmental anomaly
 -Rare genetic disease
Rare intellectual deficit with developmental anomaly
 -Rare neurologic disease
Syndromic optic nerve hypoplasia
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000252) Microcephaly 832 / 7739
2
 (HPO:0000609) Optic nerve hypoplasia 26 / 7739
3
 (HPO:0001265) Hyporeflexia 208 / 7739
4
 (HPO:0002187) Intellectual disability, profound 44 / 7739
5
 (HPO:0001250) Seizures 1245 / 7739
6
 (HPO:0001263) Global developmental delay 853 / 7739
7
 (HPO:0001319) Neonatal hypotonia 101 / 7739
8
 (OMIM) Hypoplastic brainstem with loss of demarcation at the pontomedullary junction 1 / 7739
9
 (HPO:0003577) Congenital onset 133 / 7739
10
 (OMIM) Thickened cortex 2 / 7739
11
 (HPO:0002365) Hypoplasia of the brainstem 41 / 7739
12
 (OMIM) Absence of the corpus callosum 5 / 7739
13
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
14
 (HPO:0030048) Colpocephaly 4 / 7739
15
 (OMIM) Developmental delay, severe 13 / 7739
16
 (HPO:0002126) Polymicrogyria 64 / 7739
17
 (OMIM) Colpocephaly 3 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Abdollahi et al. (2009) reported 2 unrelated consanguineous Pakistani families in which 4 children had severe developmental delay, hypotonia, and seizures. All had optic nerve hypoplasia and extensive polymicrogyria, with a dysplastic or absent corpus callosum and colpocephaly. ...
Molecular genetics OMIM By linkage analysis followed by candidate gene sequencing of chromosome 22q11.2 in a Pakistani family with polymicrogyria and optic nerve hypoplasia, Abdollahi et al. (2009) identified a homozygous deletion in the TUBA8 gene (605742.0001). Cellular studies implicated a ...