ASXL3 gene related symptoms and diseases

All the information presented here about the ASXL3 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,ORPHANET,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to ASXL3 gene

Symptoms // Phenotype % Cases
Intellectual disability Uncommon - Between 30% and 50% cases
Broad nasal tip Uncommon - Between 30% and 50% cases
Wide mouth Uncommon - Between 30% and 50% cases
Prominent nasal bridge Uncommon - Between 30% and 50% cases
Severe global developmental delay Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with ASXL3 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Arachnodactyly
  • Bulbous nose
  • Inability to walk
  • Everted lower lip vermilion
  • Highly arched eyebrow
  • Open mouth
  • Pes planus
  • Tall stature

And 31 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to ASXL3 gene

Here you will find a list of rare diseases related to the ASXL3. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


SEVERE FEEDING DIFFICULTIES-FAILURE TO THRIVE-MICROCEPHALY DUE TO ASXL3 DEFICIENCY SYNDROME


Alternate names

SEVERE FEEDING DIFFICULTIES-FAILURE TO THRIVE-MICROCEPHALY DUE TO ASXL3 DEFICIENCY SYNDROME Is also known as bainbridge-roppers syndrome

Description

Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome is rare, genetic, syndromic intellectual disability disorder with a variable phenotypic presentation typically characterized by microcephaly, severe feeding difficulties, failure to thrive, severe global development delay that frequently results in absent/poor speech, moderate to profound intellectual disability, hypotonia and a distinctive facies that includes prominent forehead, high-arched, thin eyebrows, hypertelorism, downslanting palpebral fissures, long, tubular nose with broad tip and prominent nasal bridge and wide mouth with full, everted lower lip.


More info about SEVERE FEEDING DIFFICULTIES-FAILURE TO THRIVE-MICROCEPHALY DUE TO ASXL3 DEFICIENCY SYNDROME

SOURCES: ORPHANET

BAINBRIDGE-ROPERS SYNDROME; BRPS


Description

Bainbridge-Ropers syndrome (BRPS) is a developmental disorder characterized by delayed psychomotor development, severe intellectual disability with poor or absent speech, hypotonia, feeding difficulties, poor growth, and dysmorphic facial features (summary by Srivastava et al., 2016).

Most common symptoms of BAINBRIDGE-ROPERS SYNDROME; BRPS

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


More info about BAINBRIDGE-ROPERS SYNDROME; BRPS

SOURCES: OMIM ORPHANET


Potential gene panels for ASXL3 gene

Microcephaly Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Microcephaly Sequencing Panel that also includes the following genes: STIL SLC2A1 SLC9A6 PLK4 CDKL5 TCF4 UBE3A WWOX RAB18 CRIPT

More info about this panel

Microcephaly Deletion/Duplication Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Microcephaly Deletion/Duplication Panel that also includes the following genes: STIL SLC1A4 SLC2A1 SLC9A6 SOX11 PLK4 CDKL5 TCF4 UBE3A USP18

More info about this panel

Cornelia de Lange Seq Analysis Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Cornelia de Lange Seq Analysis that also includes the following genes: SMC1A HDAC8 ASXL1 ANKRD11 SMC3 NIPBL ASXL3 RAD21

More info about this panel

Cornelia de Lange Seq + Del/Dup Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Cornelia de Lange Seq + Del/Dup Panel that also includes the following genes: SMC1A HDAC8 ASXL1 ANKRD11 SMC3 NIPBL ASXL3 RAD21

More info about this panel

Cornelia de Lange Del/Dup Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Cornelia de Lange Del/Dup Panel that also includes the following genes: SMC1A HDAC8 ASXL1 ANKRD11 SMC3 NIPBL ASXL3 RAD21

More info about this panel

Bainbridge-Ropers syndrome (sequence analysis of ASXL3 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the ASXL3 gene.

More info about this panel

Autism Spectrum Disorders Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Autism Spectrum Disorders Sequencing Panel with CNV Detection that also includes the following genes: SCN1A SCN2A SGSH BRAF SLC6A1 SLC9A6 SPAST CDKL5 STXBP1 SYN2

More info about this panel

Mental retardation - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10

More info about this panel

AllNeuro panel Panel

Germany.

By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1

More info about this panel

ASXL3 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ASXL3 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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