Mowat-Wilson syndrome (MWS) is a rare genetic disorder that may be apparent at birth or later in childhood. MWS is characterized by intellectual disability, distinctive facial features and seizures. Other congenital anomalies occur in some individuals and can include a gastrointestinal disease known as Hirschsprung disease (40-50% of individuals) in which a narrowing of a portion of the colon is present, heart (cardiac) defects, kidney (renal)  Read More

Santavuori disease, a rare genetic disorder, belongs to a group of progressive degenerative neurometabolic diseases known as the neuronal ceroid lipofuscinoses (NCL). These disorders share certain similar symptoms and are distinguished in part by the age at which such symptoms appear. Santavuori disease is considered the infantile form of the neuronal ceroid lipofuscinoses. The NCLs are characterized by abnormal accumulation of certain fatty,  Read More

Lysosomal alpha-d-mannosidase deficiency (also known as GM1 gangliosidosis) is a rare genetic disorder that can cause developmental delays, learning disabilities, and seizures. It's caused by a lack of an enzyme called alpha-d-mannosidase, which helps break down certain proteins in the body. The enzyme lysosomal alpha-d-mannosidase is responsible for breaking down glycoproteins, which are molecules made up of both  Read More

Mucolipidosis IV (MLIV) is a rare genetic disorder that affects many different parts of the body, including the lungs, eyes, and brain. The most common symptom of MLIV is failure to thrive—a condition in which a child grows very slowly. Other symptoms include severe hearing loss, frequent respiratory infections, vision problems, and seizures. MLIV is caused by mutations in the CLN3 gene, which causes a defic  Read More

L1 syndrome is an inherited, X-linked disorder occurring in males that primarily affects the nervous system. The disease is mainly characterized by hydrocephalus (increased fluid in the center of the brain), spasticity of the lower limbs (muscle stiffness), adducted thumbs (clasped towards the palm), aphasia (difficulty with speaking), seizures, and agenesis of the corpus callosum (underdeveloped or absent connecting tissue between the left an  Read More