The PNKP gene, also known as polynucleotide kinase 3′-phosphatase, is a crucial gene involved in various developmental processes. Mutations in this gene have been found to cause developmental delay, microcephaly, seizures, ataxia, and other neurological conditions. This gene is listed…
The PIGV gene is a scientific gene that encodes an enzyme called phosphatidylinositol glycan anchor biosynthesis class V (PIG-V) protein. This gene is also known as the MABRY syndrome gene, as it is associated with an inherited variant that causes…
The NSDHL gene, also known as the NAD(P)H steroid dehydrogenase-like protein, is involved in the biosynthesis of cholesterol and other sterols. Mutations in this gene have been found to cause a rare genetic disorder known as CHILD syndrome (congenital hemidysplasia…
Mucolipidosis type IV, also known as ML IV, is a rare genetic disorder that impairs the body’s ability to process certain fats and proteins. It is caused by mutations in the Mucolipin-1 gene (MCOLN1), which is responsible for the production…
Otopalatodigital syndrome type I (OPD1) is a rare X-linked genetic syndrome. It has a frequency of approximately 1 in 300,000 live births. The condition is inherited in a dominant manner and is usually caused by mutations in the FLNA gene.…
NYX gene, also known as nyctalopin, is a gene that is implicated in several vision-related disorders. It is a gene present on the X chromosome, making it an X-linked gene. The NYX gene is listed in the OMIM database, which…
The Ohdo syndrome Say-Barber-Biesecker-Young-Simpson variant is a rare genetic condition associated with underdeveloped genes. It is one of the rare syndromes that causes intellectual disability, heart defects, and other health issues. The syndrome is named after the scientists who first…
Spastic paraplegia type 8 (SPG8) is a rare genetic condition characterized by spasticity and weakness in the leg muscles. It is classified as a hereditary spastic paraplegia (HSP), which refers to a group of genetic disorders that cause progressive stiffness…
The SNCA gene, also known as the α-synuclein gene, plays a key role in various neurological conditions such as Parkinson’s disease and dementia with Lewy bodies. This gene is responsible for the production of the α-synuclein protein, which has multiple…
CLN6 disease is a rare and functional disorder that affects the central nervous system. It is also known by other names such as Batten disease and neuronal ceroid lipofuscinosis. According to OMIM, an online catalog of human genes and genetic…