PCLO gene related symptoms and diseases

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

Top 5 symptoms and clinical features associated to PCLO gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Underdeveloped nasal alae Very Common - Between 80% and 100% cases
Brachycephaly Very Common - Between 80% and 100% cases
Proptosis Very Common - Between 80% and 100% cases
Macrotia Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

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

  • Neonatal hypotonia
  • Muscular hypotonia of the trunk
  • Downturned corners of mouth
  • Dyskinesia
  • High, narrow palate
  • Full cheeks
  • Hypsarrhythmia
  • Encephalopathy

And 34 more phenotypes, you can get all of them using our tools for rare diseases.

Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Rare diseases associated to PCLO gene

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


PONTOCEREBELLAR HYPOPLASIA TYPE 3


Alternate names

PONTOCEREBELLAR HYPOPLASIA TYPE 3 Is also known as pch without dyskinesia, cerebellar atrophy with progressive microcephaly, clam, pch with optic atrophy, pch3

Description

Pontocerebellar hypoplasia type 3 (PCH3), also known as cerebellar atrophy with progressive microcephaly (CLAM) is a rare form of pontocerebellar hypoplasia (see this term) with autosomal recessive transmission characterized neonatally by hypotonia and impaired swallowing and from infancy onward by seizures, optic atrophy and short stature, but none of the clinical findings are specific for PCH3.

Most common symptoms of PONTOCEREBELLAR HYPOPLASIA TYPE 3

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


More info about PONTOCEREBELLAR HYPOPLASIA TYPE 3

SOURCES: OMIM MESH ORPHANET


Potential gene panels for PCLO gene

PCLO Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the PCLO gene.

More info about this panel

FoundationOneĀ® Heme Panel

United States.

By Foundation Medicine, Inc. FoundationOneĀ® Heme that also includes the following genes: BCL6 BCL7A ROS1 RUNX1 BLM SDHA SDHB SDHC SDHD SF3B1

More info about this panel


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like MAOA CYP11B1 HBD TGM1 ARFGEF2 DISC2 NPRL3

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more