| Main clinical features
|
characterized by mental retardation, premature ageing, retinitis pigmentosa, deafness and dwarfism,
abnormal and slow growth and development that becomes evident within the first few years after birth; 'Cachectic dwarfism' describes the outward appearance of afflicted individuals
cutaneous photosensitivity, thin, dry hair, a progeroid appearance, progressive pigmentary retinopathy, sensorineural hearing loss, dental caries, and a characteristic stance in the ambulatory patient
complementation group A (CSA defect, with defective strand specific repair of
transcriptionally active genes) |