Disease Index

male infertility characterized by autosomal recessive inheritance of large-headed, multiflagellar, polyploid spermatozoa that has material basis in mutation in the AURKC gene on chromosome 19q13

Human disease

class of lipid storage disorders relating to sphingolipid metabolism

human disease

human disease

human disease

congenital disorder of nervous system

human disease

form of spinal dysraphism associated with a protruding cyst made up of either meninges or meninges in combination with spinal cord tissue

human disease

injury to the spine on the back side of humans

Spinal muscular atrophy (SMA) is a rare genetic disorder that affects the control of muscle movement...

human disease

rare neuromuscular disorder of infants characterised by severe progressive muscle atrophy

rare neurodegenerative disease whose symptoms include slowly progressive muscle wasting

human disease

) or androgen receptor genes

Human disease

Human disease

group of dominantly inherited, predominately late-onset, cerebellar ataxias. Neuro-developmental outcome and brain-derived neurotrophic factor level in relation to feeding practice in early infancy.

Spinocerebellar ataxia type 1 (SCA1) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by dysarthria, writing difficulties, limb ataxia, and commonly nystagmus and saccadic abnormalities

nervous system disease characterized by autosomal recessive inheritance of spinocerebellar ataxia and peripheral neuropathy that has_material_basis_in homozygosity for a mutation in the TDP1 gene on chromosome 14q32.11

Human disease

Spinocerebellar ataxia type 11 (SCA11) is a subtype of autosomal dominant cerebellar ataxia type III (ADCA type III; see this term) characterized by the early-onset of cerebellar signs, eye movement abnormalities and pyramidal signs

Human disease

Human disease

Spinocerebellar ataxia type 14 (SCA14) is a rare mild subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive ataxia, dysarthria and nystagmus.

Spinocerebellar ataxia type 15/16 (SCA15/16) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar ataxia, tremor and cognitive impairment.

Human disease