IMMP2L gene related symptoms and diseases

All the information presented here about the IMMP2L gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to IMMP2L gene

Symptoms // Phenotype % Cases
Seizures Very Common - Between 80% and 100% cases
Abnormality of the face Very Common - Between 80% and 100% cases
Incomprehensible speech Very Common - Between 80% and 100% cases
Hypergalactosemia Very Common - Between 80% and 100% cases
Abnormality of the basal ganglia Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with IMMP2L gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 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.

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Rare diseases associated to IMMP2L gene

Here you will find a list of rare diseases related to the IMMP2L. 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


Potential gene panels for IMMP2L gene

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

Nuclear-Mito NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Nuclear-Mito NGS Panel that also includes the following genes: RNASEL BCS1L RPL35A MRPL3 RYR1 RYR2 SACS ACSM3 SARDH ATXN7

More info about this panel

IMMP2L Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the IMMP2L gene.

More info about this panel


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