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.

Table of contents:

Main symptoms and clinical features
Other symptoms and clinical features
Related Diseases
Current trends
Suitable testing panels

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.

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

Search interest in FOXP2

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

FOXP2 gene related symptoms and diseases

Top 5 symptoms and clinical features associated to FOXP2 gene

Other less frequent symptoms and clinical features

Not very common - Between 30% and 50% cases

Rare diseases associated to FOXP2 gene

CHILDHOOD APRAXIA OF SPEECH

Alternate names

Description

Most common symptoms of CHILDHOOD APRAXIA OF SPEECH

7Q31 MICRODELETION SYNDROME

Alternate names

Description

Search interest in FOXP2

Potential gene panels for FOXP2 gene

Syndromic Autism Panel Panel

Speech-Language Disorder 1, FOXP2 Panel

Autism/Intellectual Disability/Multiple Anomalies Panel

CustomNext: Neuro Panel

Neurodevelopment-Expanded Panel

IDNext Panel

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

Mental Retardation and Dysmorphology - panels Panel

Syndromal Diseases - panels Panel

Speech-language disorder type 1 Panel

AllNeuro panel Panel

Speech Language Disorder1, FOXP2 Panel

FOXP2 Panel

Autism Spectrum Disorders Panel

Autism Panel

Rett, Syndrome Panel

Speech-Language Disorder 1: FOXP2 Full Gene Sequencing Panel

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

Autism Spectrum Disorders: Tier 2 Panel Panel

Autism Spectrum Disorders: Tier 2 Deletion/Duplication Panel Panel

Autism NGS Panel Panel

FOXP2 Panel

Rapid microarray (CGH and SNP) Panel

High-Resolution Rapid Microarray (CGH and SNP) Panel

Speech and Language Disorder Type 1 , Sequencing FOXP2 Gene Panel

Rett Syndrome and Related Disorders , Panel Massive Sequencing (NGS) 18 Genes Panel

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

Tempus xO assay Panel