DDX3X gene related symptoms and diseases

All the information presented here about the DDX3X gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to DDX3X gene

Symptoms // Phenotype % Cases
Intellectual disability Common - Between 50% and 80% cases
Hypoplasia of the corpus callosum Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

Patients with DDX3X gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Abnormal facial shape
  • Not very common - Between 30% and 50% cases

  • Spasticity
  • Visual impairment
  • Hyperactivity
  • Aggressive behavior
  • Autistic behavior
  • Dyskinesia
  • Broad-based gait

And 96 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to DDX3X gene

Here you will find a list of rare diseases related to the DDX3X. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


TORIELLO-CAREY SYNDROME


Alternate names

TORIELLO-CAREY SYNDROME Is also known as toriello-carey syndrome, corpus callosum agenesis-blepharophimosis-robin sequence syndrome

Description

Toriello Carey syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysmorphic features, cerebral anomalies, swallowing difficulties, cardiac defects and hypotonia.

Most common symptoms of TORIELLO-CAREY SYNDROME

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


More info about TORIELLO-CAREY SYNDROME

SOURCES: OMIM ORPHANET MESH

MENTAL RETARDATION, X-LINKED 102; MRX102


Description

An inherited condition caused by mutation(s) in the DDX3X gene, encoding ATP-dependent RNA helicase DDX3X. It is characterized by severe intellectual disability and variable neurologic features.

Most common symptoms of MENTAL RETARDATION, X-LINKED 102; MRX102

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


More info about MENTAL RETARDATION, X-LINKED 102; MRX102

SOURCES: OMIM

X-LINKED INTELLECTUAL DISABILITY-HYPOTONIA-MOVEMENT DISORDER SYNDROME


Most common symptoms of X-LINKED INTELLECTUAL DISABILITY-HYPOTONIA-MOVEMENT DISORDER SYNDROME

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


More info about X-LINKED INTELLECTUAL DISABILITY-HYPOTONIA-MOVEMENT DISORDER SYNDROME

SOURCES: ORPHANET

PRECURSOR T-CELL ACUTE LYMPHOBLASTIC LEUKEMIA


Alternate names

PRECURSOR T-CELL ACUTE LYMPHOBLASTIC LEUKEMIA Is also known as precursor t-cell acute lymphoblastic leukemia/lymphoma, t-all, precursor t-cell acute lymphocytic leukemia, precursor t-cell acute lymphocytic leukemia/lymphoma


More info about PRECURSOR T-CELL ACUTE LYMPHOBLASTIC LEUKEMIA

SOURCES: ORPHANET


Potential gene panels for DDX3X gene

CustomNext: Neuro Panel

United States.

By Ambry Genetics CustomNext: Neuro that also includes the following genes: RPL10 RPS6KA3 SCN1A SCN1B SCN2A SCN8A ST3GAL3 SLC16A2 SLC2A1 SLC35A2

More info about this panel

Neurodevelopment-Expanded Panel

United States.

By Ambry Genetics Neurodevelopment-Expanded that also includes the following genes: RPL10 RPS6KA3 SCN1A SCN1B SCN2A SCN8A ST3GAL3 SLC16A2 SLC2A1 SLC35A2

More info about this panel

IDNext Panel

United States.

By Ambry Genetics IDNext that also includes the following genes: RPL10 RPS6KA3 SCN2A SCN8A ST3GAL3 SLC16A2 SLC2A1 SLC6A8 SLC9A6 SMARCA2

More info about this panel

X-Linked Intellectual Disability Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics X-Linked Intellectual Disability Sequencing Panel with CNV Detection that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC35A2 SLC6A8 SLC7A3 SLC9A6 SMC1A KDM5C SMS

More info about this panel

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

Epilepsy and Seizure Plus Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Epilepsy and Seizure Plus Sequencing Panel with CNV Detection that also includes the following genes: RORB RYR3 SCN1A SCN1B SCN2A SCN3A SCN5A SCN8A SCN9A SGCE

More info about this panel

DDX3X Syndrome/Intellectual Disability Type 102 via DDX3X Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the DDX3X 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 and Dysmorphology - panels Panel

Germany.

By MGZ Medical Genetics Center Mental Retardation and Dysmorphology - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2

More info about this panel

Syndromal Diseases - panels Panel

Germany.

By MGZ Medical Genetics Center Syndromal Diseases - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2

More info about this panel

Mental retardation, X-linked type 102 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the DDX3X gene.

More info about this panel

DDX3X Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the DDX3X gene.

More info about this panel

X-linked Intellectual Disability Panel Panel

Finland.

By Blueprint Genetics X-linked Intellectual Disability Panel that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC6A8 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5

More info about this panel

FoundationOneĀ® Heme Panel

United States.

By Foundation Medicine, Inc. FoundationOneĀ® Heme that also includes the following genes: BCL6 BCL7A ROS1 RUNX1 BLM SDHA SDHB SDHC SDHD SF3B1

More info about this panel

Providence Personalized Medicine Panel - Solid Tumor Panel

United States.

By Providence Regional Laboratories Providence Health and Services Providence Personalized Medicine Panel - Solid Tumor that also includes the following genes: BCR ROS1 RUNX1 SDHA SDHB SDHC SDHD SF3B1 SRSF2 FOXL2

More info about this panel

Tempus xT assay Panel

United States.

By Tempus Labs, Inc. Tempus xT assay that also includes the following genes: BCL6 RIT1 BCL7A BCR ROS1 RPL5 RPS15 RPS6KB1 RUNX1 RXRA

More info about this panel

Tempus xO assay Panel

United States.

By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2

More info about this panel


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