Rare Disease Intelligence

Intellectual disability-severe speech delay-mild dysmorphism syndrome is an autosomal dominant neurodevelopmental disorder caused by pathogenic varian...

Intellectual disability-sparse hair-brachydactyly syndrome is a very rare condition that primarily affects development and involves multiple systems....

Intellectual disability-spasticity-ectrodactyly syndrome is a rare condition characterized by severe intellectual disability, spastic paraplegia with...

Intellectual disability-strabismus syndrome is a neurodevelopmental condition characterized by cognitive challenges and notable eye alignment issues,...

Interdigitating dendritic cell sarcoma is a rare type of malignant neoplasm arising from cells that share characteristics with interdigitating dendrit...

Intermediate Charcot-Marie-Tooth disease is a form of inherited peripheral neuropathy that affects both motor and sensory nerves. Research has linked...

Intermediate cell type ciliary body melanoma is a malignant tumor arising from the pigmented tissues of the eye, specifically the ciliary body. It is...

Intermediate cell type uveal melanoma is characterized by the presence of intermediate cells that are smaller than epithelioid cells. Currently, no sp...

Intermediate malignant teratoma is a type of germ cell tumor characterized by the presence of an intermediate amount of undifferentiated tissues. As a...

Intermediate maple syrup urine disease is a metabolic condition in which the body has difficulty processing branched‐chain amino acids, leading to per...

Intermediate nemaline myopathy is a form of nemaline myopathy that affects skeletal muscles, leading to muscle weakness and functional challenges. It...

Intermediate severe Salla disease is a condition that affects multiple systems in the body, although detailed clinical descriptions are limited. The p...

Intermediate uveitis is an inflammatory condition primarily affecting the pars plana, a region within the eye's uveal tract. The condition is characte...