Disease Directory

Myhre syndrome is a very rare multisystem genetic disorder that affects connective tissue, skeletal development, and neurodevelopment. It is caused by...

N syndrome is an X-linked condition characterized by a range of clinical features including intellectual disability, deafness, ocular anomalies, crypt...

N1 diffuse large B-cell lymphoma is a type of blood cancer that affects B-cells, a kind of white blood cell. This condition is categorized as N1 by a...

NAA10-related syndrome is a rare X-linked condition caused by a mutation in the NAA10 gene. People with this condition may experience a range of sympt...

NACC1-related neurodevelopmental disorder with epilepsy, cataracts and episodic irritability is a rare condition that affects brain development. This...

NAD(P)HX dehydratase deficiency is a rare condition that has been associated with problems in brain development and function. It is also known by othe...

NARP syndrome is a progressive condition that affects multiple systems in the body. It is described as a clinically heterogeneous disorder, meaning th...

NDE1-related microhydranencephaly is a rare, inherited syndrome that affects the brain. It is characterized by extremely small head size (microcephaly...

NDP-related vitreoretinopathy is a condition that affects the retina of the eye. It is defined as any vitreoretinopathy caused by a variant in the NDP...

NEK9-related lethal skeletal dysplasia is a rare and severe bone condition. It is characterized by problems that begin before birth, including reduced...

NF2-related schwannomatosis is a tumor-prone disorder that primarily affects the nervous system, leading to the development of multiple schwannomas an...

NFATC1-related combined immunodeficiency is a disorder where the immune system is weakened due to a change in the NFATC1 gene. This genetic variation...

NIK deficiency is an immunodeficiency disorder caused by a loss-of-function mutation in the NIK gene (MAP3K14). This condition interferes with normal...

NK cell deficiency is a primary immunodeficiency that occurs when there is a deficiency in the number or function of natural killer (NK) cells in the...

NK-cell enteropathy is a benign condition involving an overgrowth of natural killer cells in the lining of the gastrointestinal tract. The abnormal gr...

NKX2.5-related congenital, conduction and myopathic heart disease is a condition that affects the heart in several ways. It can include congenital hea...

NMNAT1-related retinopathy is a rare eye condition that usually appears early in life. It is caused by changes in both copies of the NMNAT1 gene, whic...

NPHP3-related Meckel-like syndrome is a rare genetic condition that is known by several names, including Goldston syndrome, MKS7, and Meckel syndrome...

NR2F2 related multiple congenital anomalies/dysmorphic syndrome is a condition present at birth that primarily affects the heart. In people with this...

This is a rare and genetic neurodevelopmental disorder that affects brain development. It is characterized by global developmental delay, severe intel...