KCNK9 gene related symptoms and diseases

All the information presented here about the KCNK9 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,OMIM,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to KCNK9 gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Narrow forehead Very Common - Between 80% and 100% cases
Short philtrum Very Common - Between 80% and 100% cases
Dolichocephaly Very Common - Between 80% and 100% cases
Poor speech Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with KCNK9 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Thick eyebrow
  • High, narrow palate
  • Highly arched eyebrow
  • Broad nasal tip
  • Sacral dimple
  • Neonatal hypotonia
  • Tented upper lip vermilion
  • Dysphonia

And 26 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to KCNK9 gene

Here you will find a list of rare diseases related to the KCNK9. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


INTELLECTUAL DISABILITY, BIRK-BAREL TYPE


Alternate names

INTELLECTUAL DISABILITY, BIRK-BAREL TYPE Is also known as intellectual disability-hypotonia-facial dysmorphism syndrome, birk-barel mental retardation dysmorphism syndrome, mental retardation with hypotonia and facial dysmorphism

Description

Intellectual disability, Birk-Barel type is a rare, genetic, syndromic intellectual disability characterized by congenital central hypotonia, developmental delay, moderate to severe intellectual disability and subtle dysmorphic features which evolve over time (dolichocephaly, myopathic facies, ptosis, short and broad philtrum, tented upper lip vermillion, palatal anomalies, mild micro- and/or retrognathia). Patients present reduced facial movements, lethargy, weak cry, transient neonatal hypoglycemia, severe feeding difficulties and failure to thrive. Dysphagia, particularly of solid food, asthenic body build, joint contractures and scoliosis are additional features.

Most common symptoms of INTELLECTUAL DISABILITY, BIRK-BAREL TYPE

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Micrognathia


More info about INTELLECTUAL DISABILITY, BIRK-BAREL TYPE

SOURCES: MESH OMIM ORPHANET


Potential gene panels for KCNK9 gene

Mental retardation - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10

More info about this panel

AllNeuro panel Panel

Germany.

By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1

More info about this panel

Intellectual Disability NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Intellectual Disability NGS Panel that also includes the following genes: BCS1L RPS6KA3 SACS BIN1 SCN1A SCN8A SDCCAG8 SGCA SGSH ST3GAL3

More info about this panel

KCNK9 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the KCNK9 gene.

More info about this panel

BIRK-BAREL SYNDROME (MATERNALLY INHERITED MENTAL RETARDATION) Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the KCNK9 gene.

More info about this panel

Birk-Barel Mental Retardation Dysmorphism Syndrome , Sequencing KCNK9 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the KCNK9 gene.

More info about this panel

Birk-Barel Syndrome: gene sequencing Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics

This panel specifically test the KCNK9 gene.

More info about this panel


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