CHD1 gene related symptoms and diseases

All the information presented here about the CHD1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to CHD1 gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Developmental regression Very Common - Between 80% and 100% cases
Dermal translucency Very Common - Between 80% and 100% cases
Periorbital fullness Very Common - Between 80% and 100% cases
Speech apraxia Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with CHD1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Pointed chin
  • Apraxia
  • Postnatal growth retardation
  • Autism
  • Seizures
  • Immunodeficiency
  • Frontal bossing
  • Downslanted palpebral fissures

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


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Rare diseases associated to CHD1 gene

Here you will find a list of rare diseases related to the CHD1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


Alternate names

PILAROWSKI-BJORNSSON SYNDROME; PILBOS Is also known as developmental delay and speech apraxia with or without seizures


Pilarowski-Bjornsson syndrome is an autosomal dominant neurodevelopmental disorder characterized by delayed development, intellectual disability, often with autistic features, speech apraxia, and mild dysmorphic features. Some patients may have seizures. The phenotype is somewhat variable (summary by Pilarowski et al., 2017).


  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Growth delay



Potential gene panels for CHD1 gene

Breast and Ovarian Cancer Panel


By Asper Biogene Asper Biogene LLC Breast and Ovarian Cancer that also includes the following genes: BRCA1 BRCA2 STK11 TP53 XRCC2 CHD1 BRIP1 PALB2 MEN1 MLH1

More info about this panel

CHD1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the CHD1 gene.

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

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