Disease Directory

Infantile hypophosphatasia is a very rare and severe form of hypophosphatasia that primarily affects infants, manifesting as rickets without the typic...

Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome, also known as Baker-Gordon syndrome, is a very rare neur...

Infantile liver failure is a very rare condition affecting the liver in early life, with cases estimated to occur in fewer than 1 in 1,000,000 people....

Infantile liver failure syndrome 1 is a rare condition characterized by severe liver dysfunction in infancy that results from pathogenic variants in t...

Infantile liver failure syndrome 2 is a condition characterized by liver failure in infancy caused by mutations in the NBAS gene. It primarily affects...

Infantile liver failure syndrome 3 is a condition that primarily affects the liver and is also associated with distinct skeletal abnormalities. It is...

Infantile mercury poisoning is a condition caused by exposure to mercury, which can be elemental, organic, or inorganic in form. It primarily affects...

Infantile neuronal ceroid lipofuscinosis is a severe neurodegenerative condition classified within the neuronal ceroid lipofuscinoses, a group of diso...

Infantile osteopetrosis with neuroaxonal dysplasia is a very rare condition that affects the bones and the brain. It is characterized by abnormal bone...

Infantile spams-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome is a severe neurological condition that presents in e...

Infantile spasms is a rare epilepsy syndrome that usually affects infants between 2 and 12 months of age and in some cases up to 24 months. It causes...

Infantile spasms-broad thumbs syndrome is an extremely rare neurological and developmental condition first described in the medical literature in 1990...

Infantile-onset X-linked spinal muscular atrophy is a severe neuromuscular disorder that manifests in the neonatal period with profound muscle weaknes...

Infantile-onset ascending hereditary spastic paralysis is a very rare motor neuron disorder that primarily affects motor function in early life. It is...

Infantile-onset autosomal recessive nonprogressive cerebellar ataxia is a neurological condition that primarily affects balance and coordination due t...