KPNA7 gene related symptoms and diseases
All the information presented here about the KPNA7 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,ORPHANET,OMIM, Mendelian Rare Disease Search Engine.
Rare diseases associated to KPNA7 gene
Here you will find a list of rare diseases related to the KPNA7. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
PARTIAL CORPUS CALLOSUM AGENESIS-CEREBELLAR VERMIS HYPOPLASIA WITH POSTERIOR FOSSA CYSTS SYNDROME
Description
Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome is a rare, hereditary, cerebral malformation with epilepsy syndrome characterized by severe global developmental delay with no ability to walk and no verbal language, intractable epilepsy, partial agenesis of the corpus callosum and cerebellar vermis hypoplasia with posterior fossa cysts.
More info about PARTIAL CORPUS CALLOSUM AGENESIS-CEREBELLAR VERMIS HYPOPLASIA WITH POSTERIOR FOSSA CYSTS SYNDROME
SOURCES: ORPHANET
Search interest in KPNA7
Potential gene panels for KPNA7 gene
Epilepsy and Seizure Plus Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Epilepsy and Seizure Plus Sequencing Panel with CNV Detection that also includes the following genes: RORB RYR3 SCN1A SCN1B SCN2A SCN3A SCN5A SCN8A SCN9A SGCE
More info about this panelEarly-Onset Epileptic Encephalopathy NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Early-Onset Epileptic Encephalopathy NGS Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN3A SCN5A SCN8A SCN9A ST3GAL3 ST3GAL5 SLC25A12
More info about this panelComprehensive Epilepsy NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Comprehensive Epilepsy NGS Panel that also includes the following genes: BCS1L RYR3 SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B
More info about this panelIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like ENPEP KCNV2 FARS2 TPM1 LIPC ABCB1 GHRL