ADAT3 gene related symptoms and diseases

All the information presented here about the ADAT3 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to ADAT3 gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Behavioral abnormality Very Common - Between 80% and 100% cases
Growth hormone deficiency Very Common - Between 80% and 100% cases
Esotropia Very Common - Between 80% and 100% cases
Delayed myelination Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with ADAT3 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Telecanthus
  • Aggressive behavior
  • Hypothyroidism
  • Hyperactivity
  • Upslanted palpebral fissure
  • Prominent forehead
  • Ventriculomegaly
  • Generalized hypotonia

And 10 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to ADAT3 gene

Here you will find a list of rare diseases related to the ADAT3. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


INTELLECTUAL DISABILITY-STRABISMUS SYNDROME


Description

Intellectual disability-strabismus syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by moderate to severe intellectual disability and esotropia. Other associated features may include growth failure (underweight, failure to thrive, short stature), microcephaly, tone abnormalities (hypotonia, spasticity), epilepsy, behavioral problems (hyperactivity, aggressiveness), and/or abnormal brain morphology, including arachnoid cyst, cerebral atrophy, mild ventriculomegaly, abnormal CNS myelination or corpus callosum agenesis.

Most common symptoms of INTELLECTUAL DISABILITY-STRABISMUS SYNDROME

  • Intellectual disability
  • Generalized hypotonia
  • Microcephaly
  • Growth delay
  • Hypertelorism


More info about INTELLECTUAL DISABILITY-STRABISMUS SYNDROME

SOURCES: ORPHANET OMIM


Potential gene panels for ADAT3 gene

Non-Specific Intellectual Disability Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Non-Specific Intellectual Disability Panel that also includes the following genes: RPS6KA3 CLIP1 SCN2A ST3GAL3 SLC16A2 SLC25A1 SLC6A8 SLC9A6 SMARCA4 SMARCB1

More info about this panel

Mental retardation, autosomal recessive 36 (sequence analysis of ADAT3 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the ADAT3 gene.

More info about this panel

Mental retardation, autosomal recessive 36 (sequence analysis of ADAT3 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the ADAT3 gene.

More info about this panel

Intellectual Disability via ADAT3 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the ADAT3 gene.

More info about this panel

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

Mental retardation, autosomal recessive type 36 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the ADAT3 gene.

More info about this panel

ADAT3 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ADAT3 gene.

More info about this panel


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