Disease Directory

Noonan syndrome 14, also known by the synonym NS14, is a rare genetic condition. At this time, a detailed definition is not available; however, the co...

Noonan syndrome 2 is a rare genetic condition. While detailed information is limited, this condition is recognized as part of the Noonan syndrome spec...

Noonan syndrome 3 is a form of Noonan syndrome that is caused by a mutation in the KRAS gene. It is one of several genetic conditions grouped under No...

Noonan syndrome 4 is a type of Noonan syndrome that occurs due to a mutation in the SOS1 gene. This condition is one of several disorders within the N...

Noonan syndrome 5 is a condition that is part of the Noonan syndrome group. It is defined by the presence of a mutation in the RAF1 gene. This conditi...

Noonan syndrome 6 is a genetic condition that is part of the group of disorders known as Noonan syndromes. It occurs when there is a mutation in the N...

Noonan syndrome 7 is a rare genetic condition that is one form of Noonan syndrome. It is caused by a mutation in the BRAF gene. People with this condi...

Noonan syndrome 8 is a type of Noonan syndrome that is caused by a mutation in the RIT1 gene. This condition is part of a group of genetic disorders c...

Noonan syndrome 9 is a specific type of Noonan syndrome caused by a mutation in the SOS2 gene. It is one form of a group of conditions that share some...

Information about overview is currently limited for this condition.

Noonan syndrome with multiple lentigines is a rare multisystem genetic condition. People with this condition often have multiple small brown spots on...

Noonan syndrome-like disorder with loose anagen hair is one of the Noonan-related syndromes. It is characterized by facial features similar to Noonan...

Noonan syndrome-like disorder with loose anagen hair 1 is a rare genetic condition that shares similarities with Noonan syndrome. It is also known by...

Noonan syndrome-like disorder with loose anagen hair 2 is a rare condition. It is also known as NSLH2. Detailed information about the general features...

Lissencephaly syndrome, Norman-Roberts type is a rare condition that affects brain development. It is characterized by a smooth brain surface due to l...

Norrie disease is a rare X-linked genetic condition that affects the eyes. It is mainly characterized by abnormal development of the retina, which lea...

North Carolina macular dystrophy (NCMD) is a rare condition that affects the central area of the retina called the macula. It is a non-progressive, au...

Norum disease is a rare condition caused by a deficiency of the LCAT enzyme. This enzyme is important for processing cholesterol in the body, and with...

O'Sullivan-McLeod syndrome is a benign lower motor neuron disorder and a rare variant of monomelic amyotrophy (MA). It is characterized by an initial...

OFD1-related ciliopathy is a condition caused by changes in the OFD1 gene. These changes can be monoallelic, biallelic, or hemizygous and affect the f...