1. Mendelian
  2. Rare Diseases
  3. BAND HETEROTOPIA; BH

Band Heterotopia; Bh

Table of contents:

Genes related to Band Heterotopia; Bh

  • EML1

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Band Heterotopia; Bh

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Spasticity
  • Macrocephaly
  • Abnormality of the skeletal system
  • Ventriculomegaly
  • Hydrocephalus
  • Intellectual disability, severe

And another 6 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— The onset for some of the known clinical features related to this disease may vary, including congenital onset .

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Band Heterotopia; Bh Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Hydrocephalus Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

ZIC3, HDAC6, CCND2, CRB2, CCDC88C, FLVCR2, WDR81, DNAI1, EML1, AKT3, AP1S2, L1CAM, MPDZ, P4HB, PIK3R2, POMT1, PTEN
Specificity
6 %
Genes
100 %
EML1.

By Fulgent Genetics Fulgent Genetics (United States).

EML1
Specificity
100 %
Genes
100 %

You can get up to -6 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

MESH OMIM Rare Disease Symptoms Checker

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