CRIM1 gene related symptoms and diseases

All the information presented here about the CRIM1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to CRIM1 gene

Symptoms // Phenotype % Cases
Nystagmus Very Common - Between 80% and 100% cases
Strabismus Very Common - Between 80% and 100% cases
Myopia Very Common - Between 80% and 100% cases
Reduced visual acuity Very Common - Between 80% and 100% cases
Coloboma Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with CRIM1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Iris coloboma
  • Microcornea
  • High myopia
  • Chorioretinal coloboma
  • Macular atrophy
  • Increased intraocular pressure
  • Scleral staphyloma
  • Posterior staphyloma
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Rare diseases associated to CRIM1 gene

Here you will find a list of rare diseases related to the CRIM1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


COLOBOMATOUS MACROPHTHALMIA-MICROCORNEA SYNDROME


Alternate names

COLOBOMATOUS MACROPHTHALMIA-MICROCORNEA SYNDROME Is also known as macom syndrome

Most common symptoms of COLOBOMATOUS MACROPHTHALMIA-MICROCORNEA SYNDROME

  • Nystagmus
  • Strabismus
  • Myopia
  • Reduced visual acuity
  • Coloboma


More info about COLOBOMATOUS MACROPHTHALMIA-MICROCORNEA SYNDROME

SOURCES: OMIM ORPHANET MESH




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