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.

Table of contents:

Main symptoms and clinical features
Other symptoms and clinical features
Related Diseases
Current trends

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

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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