PERIVENTRICULAR NODULAR HETEROTOPIA 6

General Information (adopted from Orphanet):

Synonyms, Signs: PVNH6
Number of Symptoms 8
OrphanetNr:
OMIM Id: 615544
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000486) Strabismus 576 / 7739
2
 (HPO:0000750) Delayed speech and language development 197 / 7739
3
 (HPO:0001250) Seizures 1245 / 7739
4
 (HPO:0001263) Global developmental delay 853 / 7739
5
 (HPO:0002521) Hypsarrhythmia 43 / 7739
6
 (HPO:0002282) Heterotopia 21 / 7739
7
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
8
 (MedDRA:10066854) Periventricular nodular heterotopia 3 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Conti et al. (2013) reported a 7-year-old girl with delayed psychomotor development, delayed speech, strabismus, and onset of seizures with hypsarrhythmia at age 3 months. Brain MRI showed bilateral periventricular nodular heterotopia in the frontal horns.
Molecular genetics OMIM In a girl with periventricular nodular heterotopia-6, Conti et al. (2013) identified a de novo heterozygous missense mutation in the ERMARD gene (I250N; 615532.0001). The mutation was found by whole-exome sequencing of 14 unrelated patients with isolated bilateral ...