ARMC9 gene related symptoms and diseases

All the information presented here about the ARMC9 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,OMIM,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to ARMC9 gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Ptosis Very Common - Between 80% and 100% cases
Apnea Very Common - Between 80% and 100% cases
Seizures Very Common - Between 80% and 100% cases
Global developmental delay Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with ARMC9 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Delayed speech and language development
  • Aplasia/Hypoplasia of the corpus callosum
  • Hand polydactyly
  • Abnormality of neuronal migration
  • Biparietal narrowing
  • Foot polydactyly
  • Abnormality of the hypothalamus-pituitary axis
  • Abnormal pattern of respiration

And 37 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to ARMC9 gene

Here you will find a list of rare diseases related to the ARMC9. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


JOUBERT SYNDROME


Alternate names

JOUBERT SYNDROME Is also known as cerebelloparenchymal disorder iv, joubert syndrome type a, classic joubert syndrome, pure joubert syndrome, cpd iv, joubert-boltshauser syndrome

Description

Joubert syndrome (JS) is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.

Most common symptoms of JOUBERT SYNDROME

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Scoliosis
  • Ataxia


More info about JOUBERT SYNDROME

SOURCES: ORPHANET

JOUBERT SYNDROME 30; JBTS30


Most common symptoms of JOUBERT SYNDROME 30; JBTS30

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ptosis
  • Delayed speech and language development


More info about JOUBERT SYNDROME 30; JBTS30

SOURCES: OMIM


Potential gene panels for ARMC9 gene

Joubert and Meckel-Gruber Syndromes Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Joubert and Meckel-Gruber Syndromes Sequencing Panel with CNV Detection that also includes the following genes: CEP41 TMEM237 SUFU ZNF423 KIF14 KIAA0586 ARMC9 INPP5E AHI1 PIBF1

More info about this panel

Joubert syndrome and related disorders NGS panel Panel

United States.

By Connective Tissue Gene Tests Joubert syndrome and related disorders NGS panel that also includes the following genes: CEP41 TMEM237 SUFU ZNF423 KIF14 KIAA0586 ARMC9 INPP5E AHI1 PIBF1

More info about this panel

Joubert syndrome and related disorders Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Joubert syndrome and related disorders Deletion / Duplication panel that also includes the following genes: CEP41 TMEM237 SUFU ZNF423 KIF14 KIAA0586 ARMC9 INPP5E AHI1 PIBF1

More info about this panel

Joubert syndrome and related disorders Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Joubert syndrome and related disorders Comprehensive panel that also includes the following genes: CEP41 TMEM237 SUFU ZNF423 KIF14 KIAA0586 ARMC9 INPP5E AHI1 PIBF1

More info about this panel

ARMC9 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ARMC9 gene.

More info about this panel

Retinal Dystrophy Panel Panel

Finland.

By Blueprint Genetics Retinal Dystrophy Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RPE65 RPGR RS1 CNNM4

More info about this panel

Joubert Syndrome Panel Panel

Finland.

By Blueprint Genetics Joubert Syndrome Panel that also includes the following genes: CEP41 CFAP410 TMEM237 ZNF423 KIAA0586 ARMC9 INPP5E AHI1 B9D1 TCTN3

More info about this panel

Ciliopathy Panel Panel

Finland.

By Blueprint Genetics Ciliopathy Panel that also includes the following genes: SDCCAG8 CEP41 CFAP410 USP9X ZIC3 ARL6 NEK8 IFT122 IFT81 TMEM237

More info about this panel


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