Disease Index

human disease

a rare autosomal recessive disorder characterised by Cerebellar vermis hypoplasia, Oligophrenia (developmental delay/mental retardation), Ataxia, Coloboma, and Hepatic fibrosis.

congenital condition whereby the aorta is narrow, usually in the area where the ductus arteriosus (ligamentum arteriosum after regression) inserts

human disease

Human disease

disease

smooth pebbled appearance of the cerebral cortex with a thickened cortex and reduced and abnormal white matter

effects of cocaine on the body

fungal infection

Cochleosaccular degeneration-cataract syndrome is characterised by progressive sensorineural hearing loss due to severe cochleosaccular degeneration and cataract. So far, it has been reported in two families. Transmission is autosomal dominant.

rare and fatal autosomal recessive neurodegenerative disorder

Cockayne syndrome caused by mutation(s) in the ERCC8 gene, encoding DNA excision repair protein ERCC-8

Cockayne syndrome caused by mutation(s) in the ERCC6 gene, encoding DNA excision repair protein ERCC-6

human disease

Codas syndrome is a multiple congenital anomalies syndrome characterized by Cerebral, Ocular, Dental, Auricular and Skeletal anomalies

mitochondrial metabolism disease that is characterized by a deficiency of CoQ10 resulting from reduced biosynthesis

genetic disorder that is X-linked dominant

genetic disease that is characterized by underdevelopment of the tips of fingers or toes, underdevelopment or abscense of finger or toe nails and developmental disability

human disease

disease

human disease

a rare vasculitis of children and young adults characterized by nonsyphilitic interstitial keratitis of cornea, fever and fatigue.

eye disease characterized by variable iris atrophy, pigmented and pedunculated nodules located in iris and attachment of the iris to the cornea (peripheral anterior synechiae) and characterized by glaucoma

human disease

a rare genetic developmental disorder characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity

human disease

human disease

human disease