COPB2 gene related symptoms and diseases

All the information presented here about the COPB2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,OMIM,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to COPB2 gene

Symptoms // Phenotype % Cases
Global developmental delay Very Common - Between 80% and 100% cases
Ventriculomegaly Very Common - Between 80% and 100% cases
Microcephaly Very Common - Between 80% and 100% cases
Hypoplasia of the frontal lobes Uncommon - Between 30% and 50% cases
Spastic tetraplegia Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with COPB2 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Thin upper lip vermilion
  • Intellectual disability, moderate
  • Craniosynostosis
  • Tetraplegia
  • Vesicoureteral reflux
  • Sloping forehead
  • Heterotopia
  • Small cerebral cortex

And 28 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to COPB2 gene

Here you will find a list of rare diseases related to the COPB2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


MICROCEPHALY 19, PRIMARY, AUTOSOMAL RECESSIVE; MCPH19


Most common symptoms of MICROCEPHALY 19, PRIMARY, AUTOSOMAL RECESSIVE; MCPH19

  • Global developmental delay
  • Microcephaly
  • Failure to thrive
  • Spasticity
  • Ventriculomegaly


More info about MICROCEPHALY 19, PRIMARY, AUTOSOMAL RECESSIVE; MCPH19

SOURCES: OMIM

AUTOSOMAL RECESSIVE PRIMARY MICROCEPHALY


Alternate names

AUTOSOMAL RECESSIVE PRIMARY MICROCEPHALY Is also known as mcph, premature chromosome condensation with microcephaly and mental retardation, pcc syndrome, true microcephaly, premature chromosome condensation syndrome, microcephalia vera, microcephaly vera

Description

Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by reduced head circumference at birth with no gross anomalies of brain architecture and variable degrees of intellectual impairment.

Most common symptoms of AUTOSOMAL RECESSIVE PRIMARY MICROCEPHALY

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


More info about AUTOSOMAL RECESSIVE PRIMARY MICROCEPHALY

SOURCES: MESH OMIM ORPHANET


Potential gene panels for COPB2 gene

COPB2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the COPB2 gene.

More info about this panel


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