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.
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
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
Search interest in DDX3X
Potential gene panels for DDX3X gene
CustomNext: Neuro Panel
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 panelNeurodevelopment-Expanded Panel
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 panelIDNext Panel
By Ambry Genetics IDNext that also includes the following genes: RPL10 RPS6KA3 SCN2A SCN8A ST3GAL3 SLC16A2 SLC2A1 SLC6A8 SLC9A6 SMARCA2
More info about this panelX-Linked Intellectual Disability Sequencing Panel with CNV Detection Panel
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 panelNon-syndromic Intellectual Disability (NS-ID) Sequencing Panel with CNV Detection Panel
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 panelEpilepsy and Seizure Plus Sequencing Panel with CNV Detection Panel
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 panelDDX3X Syndrome/Intellectual Disability Type 102 via DDX3X Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the DDX3X gene.
More info about this panelMental retardation - different panels Panel
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 panelMental Retardation and Dysmorphology - panels Panel
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 panelSyndromal Diseases - panels Panel
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 panelMental retardation, X-linked type 102 Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the DDX3X gene.
More info about this panelDDX3X Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the DDX3X gene.
More info about this panelX-linked Intellectual Disability Panel Panel
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 panelFoundationOne® Heme Panel
By Foundation Medicine, Inc. FoundationOne® Heme that also includes the following genes: BCL6 BCL7A ROS1 RUNX1 BLM SDHA SDHB SDHC SDHD SF3B1
More info about this panelProvidence Personalized Medicine Panel - Solid Tumor Panel
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 panelTempus xT assay Panel
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 panelTempus xO assay Panel
By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2
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