Band Heterotopia; Bh
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.
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 moreSources and references
You can check the following sources for additional information.
MESH OMIM Rare Disease Symptoms CheckerIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART; NEDBEH TIBIAL HEMIMELIA LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM; HLD7 CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1; CDCBM1 DESMOSTEROLOSIS PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR