EXTL3 gene related symptoms and diseases

All the information presented here about the EXTL3 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,ORPHANET,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to EXTL3 gene

Symptoms // Phenotype % Cases
Intellectual disability Uncommon - Between 30% and 50% cases
Combined immunodeficiency Uncommon - Between 30% and 50% cases
Prominent nose Uncommon - Between 30% and 50% cases
Limb undergrowth Uncommon - Between 30% and 50% cases
Generalized-onset seizure Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with EXTL3 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Inflammatory abnormality of the skin
  • Progressive microcephaly
  • Lymphopenia
  • Coxa valga
  • Eosinophilia
  • Epiphyseal dysplasia
  • Erythroderma
  • Opisthotonus

And 38 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to EXTL3 gene

Here you will find a list of rare diseases related to the EXTL3. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES; ISDNA


Most common symptoms of IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES; ISDNA

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


More info about IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES; ISDNA

SOURCES: OMIM

SKELETAL DYSPLASIA-T-CELL IMMUNODEFICIENCY-DEVELOPMENTAL DELAY SYNDROME


Alternate names

SKELETAL DYSPLASIA-T-CELL IMMUNODEFICIENCY-DEVELOPMENTAL DELAY SYNDROME Is also known as neuro-immuno-skeletal dysplasia syndrome due to extl3 deficiency, extl3-related neuro-immuno-skeletal dysplasia syndrome


More info about SKELETAL DYSPLASIA-T-CELL IMMUNODEFICIENCY-DEVELOPMENTAL DELAY SYNDROME

SOURCES: ORPHANET


Potential gene panels for EXTL3 gene

Non-syndromic Intellectual Disability (NS-ID) Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Non-syndromic Intellectual Disability (NS-ID) Sequencing Panel with CNV Detection that also includes the following genes: BDNF RPS6KA3 SCN2A SCN8A SLC16A2 SLC2A1 SLC6A8 SLC9A6 SMC1A KDM5C

More info about this panel

EXTL3 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the EXTL3 gene.

More info about this panel

Primary Immunodeficiency Panel Panel

Finland.

By Blueprint Genetics Primary Immunodeficiency Panel that also includes the following genes: RMRP RORC CFB BLM SH2D1A SLC7A7 SMARCAL1 SMARCD2 SRP72 BTK

More info about this panel

Comprehensive Skeletal Dysplasias and Disorders Panel Panel

Finland.

By Blueprint Genetics Comprehensive Skeletal Dysplasias and Disorders Panel that also includes the following genes: RMRP ROR2 BGN RUNX2 BMP1 BMP2 BMPR1B SF3B4 SH3BP2 SHOX

More info about this panel

Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel Panel

Finland.

By Blueprint Genetics Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel that also includes the following genes: RIT1 RMRP BCS1L ROR2 BGN RRAS RUNX2 BMP1 BMP2 SEC24D

More info about this panel


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