Rare Disease Intelligence

Lipoma of the conjunctiva is a condition characterized by the presence of a benign fatty growth on the conjunctiva, the clear tissue covering the whit...

Lipomyelomeningocele is a neural tube closure defect that presents as a subcutaneous lipoma extending through a defect in the lower spine, usually in...

Liposarcoma is a malignant tumor that arises from adipose tissue and is typically painless. It presents as a mass that may be discovered incidentally...

Liposarcoma of bone is a very rare malignant tumor originating from adipose tissue within the bone. This condition falls under the category of maligna...

Liposarcoma of the ovary is a malignant tumor that arises from adipose (fat) tissue within the ovary. As an ovarian neoplasm, it is categorized among...

Lipoyl transferase 1 deficiency is a very rare metabolic disorder that primarily affects the central nervous system. It results from pathogenic varian...

Lissencephaly 7 with cerebellar hypoplasia is a congenital brain malformation characterized by a smooth cerebral surface and underdevelopment of the c...

Lissencephaly 8 is a neurodevelopmental condition characterized by an abnormal brain structure resulting from mutations in the TMTC3 gene. The disorde...

Lissencephaly due to LIS1 mutation is a brain malformation that affects the cerebral cortex, leading to a smooth brain surface and abnormal brain stru...

Lissencephaly due to TUBA1A mutation is a congenital brain development disorder characterized by abnormal neuronal migration and disordered brain laye...

The lissencephaly spectrum disorder with complex brainstem malformation is a neurological condition characterized by abnormal brain development with a...

Lissencephaly spectrum disorders are a group of developmental brain malformations characterized by abnormalities in the formation of brain convolution...

Lissencephaly type 1 due to doublecortin gene mutation is a disorder affecting brain development that leads to a smooth brain surface, intellectual di...

Lissencephaly type 3 is a disorder of brain development in which the normal folds of the cerebral cortex are considerably reduced, resulting in a smoo...