Disease Index

autosomal recessive disease characterized by severe intellectual disability, epilepsy, scoliosis, choreoathetosis, dysmorphic facial features and altered dermal pigmentation

rare hereditary disease

lysosomal storage disorder from the GM2 gangliosidosis family, characterised by central nervous system degeneration

human disease

human disease

human disease

childhood disorder characterised by gastrointestinal symptoms and associated neurological features

mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme resulting in incomplete breakdown of the heparan sulfate sugar chain

variety of inflammatory bone disorders that may be associated with skin changes

human disease

collection of diseases resulting from mutations in any of the four sarcoglycan genes

disease characterized by the growth of collections of inflammatory cells (granulomas) in multiple organs

human disease

sarcoma involving a uterine cervix

Sarcosinemia is a metabolic disorder characterized by an increased concentration of sarcosine in plasma and urine due to sarcosine dehydrogenase deficiency

medical condition

cutaneous condition

Say-Barber-Miller syndrome is characterised by the association of unusual facial features, microcephaly, developmental delay, and severe postnatal growth retardation

Say-Field-Coldwell syndrome is characterised by triphalangeal thumbs, brachydactyly, camptodactyly, recurrent dislocation of the patellas and relatively short stature. It has been described in a mother and her three daughters.

X-linked recessive disorder characterised by developmental delay

Scalp defects-postaxial polydactyly syndrome is characterised by congenital scalp defects and postaxial polydactyly type A

Human disease

human disease

human disease

human disease

medical condition

human disease

human disease

mucopolysaccharidosis characterized by corneal clouding, facial dysmorphism and normal lifespan

osteochondrosis that results in abnormal bone growth and curvature located in thoracic vertebral column