Rare Disease Intelligence

Microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome, also known as Woods-Crouchman-Huson syndrome or WOODS syndrome, i...

Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome is a very rare, multisystem condition primarily...

Microcystic lymphatic malformation is a vascular anomaly that affects the lymphatic vessels of the skin and subcutaneous tissues. It often presents as...

Microcystic/reticular schwannoma is a very rare subtype of schwannoma, a tumor that arises from the cells surrounding nerves. This condition is identi...

Microcytic anemia with liver iron overload is a congenital disorder characterized by hypochromic microcytic anemia and progressive accumulation of iro...

Microform holoprosencephaly is a benign form of holoprosencephaly characterized primarily by subtle midline facial defects without the severe brain cl...