band heterotopia of brain
MONDO:0010873Mondo
Findings
No curated finding names band heterotopia of brain yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
14 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Agenesis of corpus callosumHPOHP:0001274
- 4 of 4 reported patients
- Global developmental delayHPOHP:0001263
- 3 of 3 reported patients
- Gray matter heterotopiaHPOHP:0002282
- 1 of 1 reported patient
- HydrocephalusHPOHP:0000238
- 1 of 3 reported patients · Congenital onset
- 1 of 1 reported patient
- Lateral ventricle dilatationHPOHP:0006956
- 1 of 1 reported patient
- MacrocephalyHPOHP:0000256
- 3 of 3 reported patients
- PolymicrogyriaHPOHP:0002126
- 4 of 4 reported patients
- Profound global developmental delayHPOHP:0012736
- 1 of 1 reported patient
- Severe intellectual disabilityHPOHP:0010864
- 3 of 3 reported patients
- Subcortical band heterotopiaHPOHP:0032409
- 4 of 4 reported patients
- SeizureHPOHP:0001250
- 4 of 5 reported patients
- Hypoplastic hippocampusHPOHP:0025517
- 1 of 3 reported patients
Show the remaining 2
- PlagiocephalyHPOHP:0001357
- 1 of 3 reported patients
- VentriculomegalyHPOHP:0002119
- 1 of 3 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- EML1HGNC:3330
- Definitive · ClinGen · Autosomal recessive · 2025
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2022