NTNG1 gene related symptoms and diseases

All the information presented here about the NTNG1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,HGNC,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to NTNG1 gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Fine hair Very Common - Between 80% and 100% cases
Cerebral palsy Very Common - Between 80% and 100% cases
Accelerated skeletal maturation Very Common - Between 80% and 100% cases
Abnormality of the fingernails Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with NTNG1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Spastic paraparesis
  • Paraparesis
  • Truncal ataxia
  • Nephrolithiasis
  • Postnatal microcephaly
  • Progressive neurologic deterioration
  • Intellectual disability, profound
  • Cachexia

And 84 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to NTNG1 gene

Here you will find a list of rare diseases related to the NTNG1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


ATYPICAL RETT SYNDROME


Alternate names

ATYPICAL RETT SYNDROME Is also known as atypical rtt, rett syndrome variant, autism, dementia, ataxia, and loss of purposeful hand use, rts

Description

Atypical Rett syndrome (atypical RTT) is a neurodevelopmental disorder that is diagnosed when a child presents with a Rett-like syndrome but does not fulfill all the diagnostic criteria for typical Rett syndrome (classic/typical RTT; see this term).

Most common symptoms of ATYPICAL RETT SYNDROME

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


More info about ATYPICAL RETT SYNDROME

SOURCES: OMIM ORPHANET


Potential gene panels for NTNG1 gene

Syndromic Autism Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Syndromic Autism Panel that also includes the following genes: SCN1A SCN2A BRAF SLC2A1 SLC9A6 SMC1A KDM5C CDKL5 STXBP1 TBR1

More info about this panel

NTNG1. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the NTNG1 gene.

More info about this panel

MECP2, NTNG1, CDKL5. NextGeneDx. Complete sequencing by NGS Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica MECP2, NTNG1, CDKL5. NextGeneDx. Complete sequencing by NGS that also includes the following genes: CDKL5 NTNG1 MECP2

More info about this panel

Atypical Rett syndrome (sequence analysis of NTNG1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the NTNG1 gene.

More info about this panel

Autism, NTNG1 related Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the NTNG1 gene.

More info about this panel

Single gene testing NTNG1 Panel

Germany.

By CeGaT GmbH

This panel specifically test the NTNG1 gene.

More info about this panel

Autism Spectrum Disorders Panel

Estonia.

By Asper Biogene Asper Biogene LLC Autism Spectrum Disorders that also includes the following genes: RPL10 SCN1A SCN2A BRAF SLC6A4 SLC6A8 CDKL5 MED12 TSC1 TSC2

More info about this panel

Rett, Syndrome Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Rett, Syndrome that also includes the following genes: BDNF SCN2A CDKL5 STXBP1 TCF4 UBE3A FOXP2 SHANK3 ARX NTNG1

More info about this panel

Autism NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Autism NGS Panel that also includes the following genes: RPL10 BDNF SCN1A SCN2A BRAF SLC6A4 SLC9A6 SMC1A KDM5C SNRPN

More info about this panel

Comprehensive Epilepsy NGS Panel Panel

United States.

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 panel

NTNG1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the NTNG1 gene.

More info about this panel

Rett syndrome atypical Panel

Spain.

By Bioarray

This panel specifically test the NTNG1 gene.

More info about this panel

Rett Syndrome and Related Disorders , Panel Massive Sequencing (NGS) 18 Genes Panel

Spain.

By Reference Laboratory Genetics Rett Syndrome and Related Disorders , Panel Massive Sequencing (NGS) 18 Genes that also includes the following genes: BDNF SCN2A CDKL5 STXBP1 TCF4 UBE3A FOXP2 SHANK3 ARX NTNG1

More info about this panel


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