DEAF1 gene related symptoms and diseases

All the information presented here about the DEAF1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,ORPHANET,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to DEAF1 gene

Symptoms // Phenotype % Cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Aggressive behavior Uncommon - Between 30% and 50% cases
Sleep disturbance Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with DEAF1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Toe syndactyly
  • Mandibular prognathia
  • EEG abnormality
  • Mood swings
  • Gait disturbance
  • Tented upper lip vermilion
  • Rarely - Less than 30% cases

  • Self-injurious behavior
  • Chronic otitis media

And 80 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to DEAF1 gene

Here you will find a list of rare diseases related to the DEAF1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


SMITH-MAGENIS SYNDROME


Alternate names

SMITH-MAGENIS SYNDROME Is also known as 17p11.2 microdeletion syndrome

Description

Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by variable intellectual deficit, sleep disturbance, craniofacial and skeletal anomalies, psychiatric disorders, and speech and motor delay.

Most common symptoms of SMITH-MAGENIS SYNDROME

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


More info about SMITH-MAGENIS SYNDROME

SOURCES: ORPHANET

MENTAL RETARDATION, AUTOSOMAL DOMINANT 24; MRD24


Most common symptoms of MENTAL RETARDATION, AUTOSOMAL DOMINANT 24; MRD24

  • Intellectual disability
  • Global developmental delay
  • Pain
  • Gait disturbance
  • Syndactyly


More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 24; MRD24

SOURCES: OMIM

AUTOSOMAL DOMINANT NON-SYNDROMIC INTELLECTUAL DISABILITY



More info about AUTOSOMAL DOMINANT NON-SYNDROMIC INTELLECTUAL DISABILITY

SOURCES: ORPHANET

INTELLECTUAL DISABILITY-EPILEPSY-EXTRAPYRAMIDAL SYNDROME


Most common symptoms of INTELLECTUAL DISABILITY-EPILEPSY-EXTRAPYRAMIDAL SYNDROME

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Absent speech


More info about INTELLECTUAL DISABILITY-EPILEPSY-EXTRAPYRAMIDAL SYNDROME

SOURCES: OMIM ORPHANET


Potential gene panels for DEAF1 gene

Epilepsy Advanced Sequencing and CNV Evaluation - Developmental Brain Malformations Panel

United States.

By Athena Diagnostics Inc Epilepsy Advanced Sequencing and CNV Evaluation - Developmental Brain Malformations that also includes the following genes: SHH STIL SIX3 TUBA8 SLC25A19 DEAF1 ARFGEF2 RAB3GAP1 CENPJ NDE1

More info about this panel

Epilepsy Advanced Sequencing and CNV Evaluation Panel

United States.

By Athena Diagnostics Inc Epilepsy Advanced Sequencing and CNV Evaluation that also includes the following genes: SCN1A SCN1B SCN2A SCN3A SCN5A SCN8A SCN9A SHH ST3GAL3 ST3GAL5

More info about this panel

Epilepsy Advanced Sequencing and CNV Evaluation - Intellectual Disability Panel

United States.

By Athena Diagnostics Inc Epilepsy Advanced Sequencing and CNV Evaluation - Intellectual Disability that also includes the following genes: SLC35A2 SLC6A8 SLC9A6 SMC1A KDM5C SMS SNAP25 CDKL5 SYN1 SYP

More info about this panel

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

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

Autism Spectrum Disorders Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Autism Spectrum Disorders Sequencing Panel with CNV Detection that also includes the following genes: SCN1A SCN2A SGSH BRAF SLC6A1 SLC9A6 SPAST CDKL5 STXBP1 SYN2

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 dominant type 24 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the DEAF1 gene.

More info about this panel

DEAF1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the DEAF1 gene.

More info about this panel

Mental Retardation (Complete Panel) , Panel Massive Sequencing (NGS) 91 Genes Panel

Spain.

By Reference Laboratory Genetics Mental Retardation (Complete Panel) , Panel Massive Sequencing (NGS) 91 Genes that also includes the following genes: RPS6KA3 ST3GAL3 SLC6A8 SMARCA4 SMARCB1 ARID1A KDM5C STXBP1 SYNGAP1 SYP

More info about this panel

Autosomal Dominant Mental Retardation , Panel Massive Sequencing (NGS) 31 Genes Panel

Spain.

By Reference Laboratory Genetics Autosomal Dominant Mental Retardation , Panel Massive Sequencing (NGS) 31 Genes that also includes the following genes: SMARCA4 SMARCB1 ARID1A SYNGAP1 TRIO ZBTB18 CACNG2 DEAF1 SETBP1 ADNP

More info about this panel


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