Phenotypes for disease #00061 (CLN8 (lipofuscinosis, ceroid, neuronal, type 8 (CLN-8)), OMIM:600143)

3 entries on 1 page. Showing entries 1 - 3.
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AscendingPhenotype ID     

Diagnosis/Initial     

Inheritance     

Age/Examination     

Diagnosis/Definite     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Phenotype details     

Protein     

Owner     

Individual ID     
0000233301 - Familial, autosomal recessive - - 08y04m 02y - Febrile seizures, Developmental regression, Brain atrophy - Corina-Marcela Rus 00307876
0000233319 - Familial, autosomal recessive - - 04y07m 03y05m - Ptosis, Dementia, Seizures, Ataxia, Hemiparesis, Gait disturbance, Encephalopathy, Generalized-onset seizure, Developmental regression, Aphasia, Leukodystrophy, Abnormal myelination, Neurodevelopmental abnormality - Corina-Marcela Rus 00307896
0000274627 - Familial - Ceroid lipofuscinosis type 8 - - - DD; ID; seizures; regression; cerebellar atrophy (Neurological) - LOVD 00380774
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