Manifestations in infancy |
Clinical manifestation | Frequency | Typical time of onset | Course |
Hearing impairment | 60% | Early infancy | Permanent |
Heart defect | 45% | | |
Patent ductus arteriosus | 20% | Early infancy | Permanent |
Peripheral pulmonic stenosis* | 12% | Early infancy | Permanent |
Microcephaly | 27% | Neonatal | Permanent |
Cataracts | 25% | Early infancy | Permanent |
Low birth weight (<2500 g) | 23% | Neonatal | Poor weight gain may persist |
Hepatosplenomegaly | 19% | Neonatal | Transient |
Purpura | 17% | Neonatal | Transient |
Intellectual disability (mental retardation) | 13% | Variable | Permanent |
Meningoencephalitis | 10% | Neonatal | Transient |
Radiolucent bone lesions | 7% | Neonatal | Transient |
Retinopathy | 5% | Early infancy | Permanent |
Late-onset manifestations¶ |
Hearing loss | Permanent |
Intellectual disability | Permanent |
Diabetes mellitus | Permanent |
Thyroid dysfunctionΔ | Permanent |
Progressive panencephalitis | Permanent |