Ceroid Lipofuscinosis, Neuronal, 8 (CLN8)

Ceroid Lipofuscinosis, Neuronal, 8(来自ICD-11)
别称:
Neuronal Ceroid Lipofuscinosis 8
Cln8
Cln8 Disease
Lipofuscinosis, Ceroid, Neuronal, Type 8
Turkish Variant Late Infantile Ncl
Ceroid Lipofuscinosis, Neuronal 8
Northern Epilepsy Syndrome
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Ceroid Lipofuscinosis, Neuronal, 8, also known as neuronal ceroid lipofuscinosis 8, is related to ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant and neuronal ceroid lipofuscinosis, and has symptoms including ataxia, myoclonus and seizures. An important gene associated with Ceroid Lipofuscinosis, Neuronal, 8 is CLN8 (CLN8 Transmembrane ER And ERGIC Protein). Affiliated tissues include eye and brain, and related phenotypes are seizure and ataxia
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MALACARDS
AR
Child
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6
26
23

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