NOP9 gene related symptoms and diseases

All the information presented here about the NOP9 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to NOP9 gene

Symptoms // Phenotype % Cases
Global developmental delay Very Common - Between 80% and 100% cases
Abnormal facial shape Very Common - Between 80% and 100% cases
Delayed speech and language development Very Common - Between 80% and 100% cases
Autism Very Common - Between 80% and 100% cases
Autistic behavior Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with NOP9 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Abnormality of the cerebral white matter
  • Peripheral demyelination
  • Language impairment
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Rare diseases associated to NOP9 gene

Here you will find a list of rare diseases related to the NOP9. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


SPECIFIC LANGUAGE IMPAIRMENT 5; SLI5


Description

Specific language impairment-5 is characterized by a delay in early speech acquisition and is usually associated with cerebral white matter abnormalities on brain MRI. Some individuals may show disorders in communication, consistent with autism spectrum disorder, or global developmental delay, although others ultimately show normal cognitive function. Penetrance is incomplete and expressivity is variable. This type of disorder is observed most commonly among individuals of East Asian descent (summary by Wiszniewski et al., 2013).For a phenotypic description and a discussion of genetic heterogeneity of specific language impairment, see SLI1 (OMIM ).

Most common symptoms of SPECIFIC LANGUAGE IMPAIRMENT 5; SLI5

  • Global developmental delay
  • Abnormal facial shape
  • Delayed speech and language development
  • Autism
  • Autistic behavior


More info about SPECIFIC LANGUAGE IMPAIRMENT 5; SLI5

SOURCES: OMIM




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