infantile neuronal ceroid lipofuscinosis (INCL)
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Clinical manifestations
- mental retardation
- speech loss
- minor motor seizures
- hypotonia
- ataxia
- myoclonic jerks
- microcephaly
- optic atrophy
- blindness
- premature death (8-11 years of age)
More general terms
More specific terms
- infantile neuronal ceroid lipofuscinosis 1 (Hagberg-Santavuori type, CLN1)
- infantile neuronal ceroid lipofuscinosis 2 (Bielschowsky-Jansky type, CLN2)
- infantile neuronal ceroid lipofuscinosis 5 (Finnish variant, late-infantile neuronal ceroid lipofuscinosis)
- variant late onset infantile neuronal ceroid lipofuscinosis