FOXP2 gene related symptoms and diseases

All the information presented here about the FOXP2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to FOXP2 gene

Symptoms // Phenotype % Cases
Seizures Uncommon - Between 30% and 50% cases
Abnormality of the face Uncommon - Between 30% and 50% cases
Incomprehensible speech Uncommon - Between 30% and 50% cases
Hypergalactosemia Uncommon - Between 30% and 50% cases
Abnormality of the basal ganglia Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with FOXP2 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Speech apraxia
  • Dysphasia
  • Language impairment
  • Apraxia
  • Global developmental delay
  • Falls
  • Poor speech
  • Stroke

And 5 more phenotypes, you can get all of them using our tools for rare diseases.

Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Rare diseases associated to FOXP2 gene

Here you will find a list of rare diseases related to the FOXP2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


CHILDHOOD APRAXIA OF SPEECH


Alternate names

CHILDHOOD APRAXIA OF SPEECH Is also known as speech-language disorder type 1, dvd, cas, developmental verbal dyspraxia, speech and language disorder with orofacial dyspraxia, childhood apraxia of speech

Description

Speech-language disorder-1 is an autosomal dominant disorder characterized by severe orofacial dyspraxia resulting in largely incomprehensible speech. Affected individuals were originally thought to have specific defects in the use of grammatical suffixation rules (Gopnik, 1990; Gopnik and Crago, 1991). The phenotype, however, is broader in nature, with virtually every aspect of grammar and language affected (Fisher et al., 1998). Vargha-Khadem et al. (1998) concluded that the disorder is characterized by abnormal development of several brain areas critical for both orofacial movements and sequential articulation, resulting in marked disruption of speech and expressive language. Relation to Specific Language ImpairmentChildren who fail to develop expressive and/or receptive language normally, in the absence of explanatory factors such as neurologic disorders, hearing impairment, or lack of adequate opportunity, are clinically described as having specific language impairment (SLI; see {606711}) (Bartlett et al., 2002).See also familial developmental dysphasia (OMIM ).

Most common symptoms of CHILDHOOD APRAXIA OF SPEECH

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Neoplasm
  • Delayed speech and language development


More info about CHILDHOOD APRAXIA OF SPEECH

SOURCES: OMIM ORPHANET

7Q31 MICRODELETION SYNDROME


Alternate names

7Q31 MICRODELETION SYNDROME Is also known as monosomy 7q31, del(7)(q31)

Description

7q31 microdeletion syndrome is a rare chromosomal anomaly characterized by speech and language disorder, predominantly presenting as an apraxia of speech, sometimes associated with oral motor dyspraxia, dysarthria, receptive and expressive language disorder, and hearing loss. Individuals with larger deletions in this region have also been reported to display intellectual disability and autism.


More info about 7Q31 MICRODELETION SYNDROME

SOURCES: ORPHANET


Potential gene panels for FOXP2 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

Speech-Language Disorder 1, FOXP2 Panel

United States.

By Center for Human Genetics, Inc

This panel specifically test the FOXP2 gene.

More info about this panel

Autism/Intellectual Disability/Multiple Anomalies Panel

United States.

By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center Autism/Intellectual Disability/Multiple Anomalies that also includes the following genes: BDNF RPS6KA3 SCN1A BRAF SLC2A1 SLC6A4 SLC9A6 SMC1A KDM5C SOS1

More info about this panel

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

Speech-language disorder 1 (sequence analysis of FOXP2 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the FOXP2 gene.

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

Speech-language disorder type 1 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the FOXP2 gene.

More info about this panel

AllNeuro panel Panel

Germany.

By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1

More info about this panel

Speech Language Disorder1, FOXP2 Panel

Israel.

By GGA - Galil Genetic Analysis

This panel specifically test the FOXP2 gene.

More info about this panel

FOXP2 Panel

Germany.

By MVZ Dortmund Dr. Eberhard & Partner

This panel specifically test the FOXP2 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

Autism Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Autism that also includes the following genes: RPL10 SLC25A12 SLC6A4 UBE3A CNTNAP2 FOXP2 CACNA1C CACNA1F CACNA1H PCDH19

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

Speech-Language Disorder 1: FOXP2 Full Gene Sequencing Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics

This panel specifically test the FOXP2 gene.

More info about this panel

Speech-Language Disorder 1: FOXP2 Gene Deletion/Duplication Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics

This panel specifically test the FOXP2 gene.

More info about this panel

Autism Spectrum Disorders: Tier 2 Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Autism Spectrum Disorders: Tier 2 Panel that also includes the following genes: SCN1A BRAF SLC2A1 SLC9A6 SMARCB1 SMC1A KDM5C CDKL5 TCF4 MED12

More info about this panel

Autism Spectrum Disorders: Tier 2 Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Autism Spectrum Disorders: Tier 2 Deletion/Duplication Panel that also includes the following genes: SCN1A BRAF SLC2A1 SLC9A6 SMARCB1 SMC1A KDM5C CDKL5 TCF4 MED12

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

FOXP2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the FOXP2 gene.

More info about this panel

Rapid microarray (CGH and SNP) Panel

United States.

By Allele Diagnostics Allele Diagnostics Rapid microarray (CGH and SNP) that also includes the following genes: RPS19 RUNX2 SALL1 SCN1A SCN2A SDHB SDHD BMPR1A SGCE SH2D1A

More info about this panel

High-Resolution Rapid Microarray (CGH and SNP) Panel

United States.

By Allele Diagnostics Allele Diagnostics High-Resolution Rapid Microarray (CGH and SNP) that also includes the following genes: RPS19 RUNX2 SALL1 SCN1A SCN2A SDHB SDHD BMPR1A SGCE SH2D1A

More info about this panel

Speech and Language Disorder Type 1 , Sequencing FOXP2 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the FOXP2 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

Autism Spectrum Disorders (Expanded Panel) , Panel Massive Sequencing (NGS) 77 Genes Panel

Spain.

By Reference Laboratory Genetics Autism Spectrum Disorders (Expanded Panel) , Panel Massive Sequencing (NGS) 77 Genes that also includes the following genes: RPL10 BDNF SCN1A SCN2A BRAF SLC6A4 SLC9A6 SMC1A KDM5C SNRPN

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


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like PGK1 B3GAT3 KERA DBH

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more