Sotos syndrome, also known as cerebral gigantism, is a rare genetic disorder characterized by distinctive facial features, rapid growth during infancy and ...

Smith–Lemli–Opitz syndrome (SLOS) is a rare inherited disorder of cholesterol metabolism that presents at birth with a wide spectrum of physical malformations, ...

Skraban–Deardorff syndrome (also known as WDR26-related disorder or Intellectual Disability with Seizures, Abnormal Gait, and Distinctive Facial Features) is a ...

Sjögren–Larsson syndrome is a rare, inherited disorder that affects both the skin and the nervous system. It arises because of a deficiency of the enzyme fatty ...

Leigh syndrome, also known as subacute necrotizing encephalomyelopathy, is a rare genetic disorder that affects the central nervous system. It is characterized ...

Chronic Progressive External Ophthalmoplegia (CPEO) is a rare mitochondrial muscle disease characterized by slow, gradual weakening of the muscles that control ...

Pearson syndrome is a rare mitochondrial disorder characterized by a failure of the bone marrow to produce blood cells (sideroblastic anemia) and dysfunction ...

Kearns–Sayre syndrome (KSS) is a rare mitochondrial myopathy characterized by a classic triad of chronic progressive external ophthalmoplegia (CPEO), ...

Sturge–Weber syndrome (SWS) is a rare, non-inherited neurocutaneous disorder caused by a spontaneous somatic mosaic mutation in the GNAQ gene on chromosome 9. ...

Internuclear ophthalmoplegia (INO) is a specific gaze disorder resulting from a lesion of the medial longitudinal fasciculus (MLF), the neural tract that ...

Bilateral Vertical Nuclear Ophthalmoplegia is a rare condition in which the nuclei in the midbrain that control up-and-down eye movements become dysfunctional ...

Bilateral Horizontal Nuclear Ophthalmoplegia is a rare eye movement disorder in which the horizontal gaze centers located in the brainstem nuclei on both sides ...

Hanhart syndrome is a rare congenital disorder marked by underdevelopment of the tongue (hypoglossia) and variable malformations of the limbs. First described ...

Poland–Mobius syndrome is a rare congenital condition that combines features of two distinct disorders: Poland syndrome and Möbius syndrome. In Poland ...

Oromandibular-Limb Hypogenesis Sequence (also called Oromandibular-Limb Hypogenesis Syndrome) is a rare congenital condition characterized by underdevelopment ...

Classical Möbius syndrome is a rare congenital neurological disorder characterized primarily by non-progressive facial paralysis and impaired ocular abduction ...

Lambert–Eaton Myasthenic Syndrome (LEMS) is a rare autoimmune disorder that affects the communication between nerves and muscles, leading to muscle weakness ...

Congenital Myasthenic Syndromes (CMS) are a group of inherited disorders affecting the safety and reliability of signal transmission at the neuromuscular ...

Generalized Myasthenia Gravis with Ocular Onset is an autoimmune neuromuscular disorder characterized by fluctuating muscle weakness that often begins in the ...

Ocular Myasthenia Gravis (OMG) is a form of myasthenia gravis in which the weakness of voluntary muscles is confined to those controlling the eyes and eyelids. ...