Pilarowski-bjornsson Syndrome; Pilbos
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).
Genes related to Pilarowski-bjornsson Syndrome; Pilbos
Clinical FeaturesTop most frequent phenotypes and symptoms related to Pilarowski-bjornsson Syndrome; Pilbos
- Intellectual disability
- Global developmental delay
- Generalized hypotonia
- Growth delay
- Downslanted palpebral fissures
- Frontal bossing
And another 8 symptoms. If you need more information about this disease we can help you.
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.
Pilarowski-bjornsson Syndrome; Pilbos Is also known as developmental delay and speech apraxia with or without seizures.
Researches and researchersCurrently, 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 , (...)
View the complete list with 2 more genes
By Fulgent Genetics Fulgent Genetics (United States).
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 , (...)
View the complete list with 1627 more genes
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Sources and references
You can check the following sources for additional information.OMIM Rare Disease Symptoms Checker