Pilarowski-bjornsson Syndrome; Pilbos

Description

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).

Clinical Features

Top most frequent phenotypes and symptoms related to Pilarowski-bjornsson Syndrome; Pilbos

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Growth delay
  • Macrocephaly
  • Downslanted palpebral fissures
  • Frontal bossing
  • Immunodeficiency
  • Autism

And another 8 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Pilarowski-bjornsson Syndrome; Pilbos Is also known as developmental delay and speech apraxia with or without seizures.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Pilarowski-bjornsson Syndrome; Pilbos Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Breast and Ovarian Cancer.

By Asper Biogene Asper Biogene LLC (Estonia).

BRCA1, BRCA2, STK11, TP53, XRCC2, CHD1, BRIP1, PALB2, MEN1, MLH1, MRE11, MSH2, MSH6, MUTYH, NBN, ATM, BARD1, PTCH1, PTEN, RAD50 , (...)

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Specificity
5 %
Genes
100 %
CHD1.

By Fulgent Genetics Fulgent Genetics (United States).

CHD1
Specificity
100 %
Genes
100 %
Tempus xO assay.

By Tempus Labs, Inc. (United States).

BCL6, RHEB, RIPK1, RIPK2, RIPK3, RIT1, BCL7A, BCL9, BCR, ROBO2, ROCK1, ROCK2, ROR1, ROR2, ROS1, RPA1, BDNF, RPL5, RPN1, RPS6KB1 , (...)

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Specificity
1 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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