Disease Directory

GNAT2-related retinopathy is an inherited eye condition that affects the retina, the light-sensitive tissue at the back of the eye responsible for vis...

GNE myopathy is a muscle disorder that primarily affects the distal muscles, most causing weakness in the lower limbs. It is caused by pathogenic vari...

GNPTAB-mucolipidosis is a genetic condition caused by changes in both copies of the GNPTAB gene, making it an autosomal recessive disorder. It affects...

GNPTG-mucolipidosis is a very rare lysosomal disorder most often observed in the Middle East. It is caused by alterations in the GNPTG gene, which pla...

GPR179-related retinopathy is an inherited eye condition affecting the retina. It is caused by changes in both copies of the GPR179 gene. This conditi...

GRACILE syndrome is a rare, inherited mitochondrial disorder that affects growth and metabolism. The condition is noted for a set of features includin...

GRFoma is a rare tumor that has been observed to measure around 6 cm at diagnosis. About one third of these tumors have spread (metastasized) by the t...

GRID2-related autosomal dominant spinocerebellar ataxia is a rare neurological condition characterized by progressive ataxia. Currently, no specific g...

GRIN-related complex neurodevelopmental disorder is a group of conditions that affect the brain and development. These conditions are caused by change...

GRIN1-related complex neurodevelopmental disorder is a condition caused by variations in the GRIN1 gene. These genetic variations affect brain develop...

GRIN2A-related complex neurodevelopmental disorder is a group of neurological and neurodevelopmental disorders caused by changes in the GRIN2A gene. T...

This condition is a developmental and/or epileptic encephalopathy where a genetic variation in the GRIN2A gene is present. It is noted by abnormal bra...

GRIN2A-related rolandic epilepsy-speech dyspraxia syndrome is a type of rolandic epilepsy-speech dyspraxia disorder where a change in the GRIN2A gene...

GRIN2A-related self-limited epilepsy with centrotemporal spikes is a type of epilepsy marked by a pattern seen in brain wave tests called centrotempor...

GRIN2B-related complex neurodevelopmental disorder is a condition that affects brain development due to a variation in the GRIN2B gene. People with th...

GRM6-related retinopathy is an inherited eye condition that affects the retina, the part of the eye that senses light. It is caused by bi-allelic vari...

GRN-related frontotemporal lobar degeneration with Tdp43 inclusions is a type of frontotemporal dementia. This condition is mainly marked by changes i...

GTP cyclohydrolase I deficiency is a condition where the enzyme GTP cyclohydrolase I is lower than normal. This enzyme is important for making a helpe...

GTP cyclohydrolase I deficiency with hyperphenylalaninemia is a rare condition that is identified by its association with high levels of phenylalanine...

GUCA1A-related retinopathy is an eye condition that affects the retina, the light-sensitive tissue at the back of the eye. It is caused by a variant i...