HNRNPH2 gene related symptoms and diseases

All the information presented here about the HNRNPH2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to HNRNPH2 gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Short philtrum Very Common - Between 80% and 100% cases
Anxiety Very Common - Between 80% and 100% cases
Aggressive behavior Very Common - Between 80% and 100% cases
Joint laxity Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with HNRNPH2 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Developmental regression
  • Hyperlordosis
  • Autistic behavior
  • Wide mouth
  • Attention deficit hyperactivity disorder
  • Pectus carinatum
  • Gastroesophageal reflux
  • Thick vermilion border

And 33 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to HNRNPH2 gene

Here you will find a list of rare diseases related to the HNRNPH2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB


Description

MRXSB is an X-linked dominant neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability with behavioral abnormalities, and dysmorphic facial features. Additional variable features include musculoskeletal abnormalities, seizures, acquired microcephaly, and feeding problems with poor overall growth. Only females are affected (summary by Bain et al., 2016).

Most common symptoms of MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


More info about MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB

SOURCES: OMIM


Potential gene panels for HNRNPH2 gene

Autism Spectrum Disorders 53-Gene Panel Panel

United States.

By Center for Human Genetics, Inc Autism Spectrum Disorders 53-Gene Panel that also includes the following genes: RPL10 SYN1 SYNGAP1 TSPAN7 PCDH10 CNTNAP2 SH3KBP1 CACNA1H PCDH19 NLGN4X

More info about this panel

Ataxia Exome Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Ataxia Exome Panel that also includes the following genes: BCS1L RTN2 SACS SCN1A SCN2A SCN8A SCO1 SDHA SDHD SLC16A2

More info about this panel

X-Linked Intellectual Disability Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics X-Linked Intellectual Disability Sequencing Panel with CNV Detection that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC35A2 SLC6A8 SLC7A3 SLC9A6 SMC1A KDM5C SMS

More info about this panel


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