Phenotypes for disease #01649 (CLN2 (lipofuscinosis, ceroid, neuronal, type 2 (CLN-2)), OMIM:204500)

10 entries on 1 page. Showing entries 1 - 10.
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AscendingPhenotype ID     
Phenotype details     
Diagnosis/Initial     
Diagnosis/Definite     
Inheritance     
Age/Examination     
Age/Diagnosis     
Age/Onset     
Phenotype/Onset     
Protein     
Owner     
Individual ID     
0000060375 Ceroid lipofuscinosis, neuronal, 2 (OMIM:204500) - - Familial, autosomal recessive - - - - - Daniel Trujillano 00080806
0000233287 Nystagmus, Seizures, Global developmental delay, Fever, Abnormality of the cerebral white matter, Arachnoid cyst - - Familial, autosomal recessive - 05y03m 04y01m - - Corina-Marcela Rus 00307861
0000233288 Intellectual disability, Ataxia, Motor delay, Cerebellar atrophy, Failure to thrive, Vomiting - - Familial, autosomal recessive - 04y04m - - - Corina-Marcela Rus 00307862
0000233289 Seizures, Dystonia, Tremor, Absent speech, Global brain atrophy, Developmental regression, Loss of ability to walk in early childhood - - Familial, autosomal recessive - 05y 02y06m - - Corina-Marcela Rus 00307863
0000233290 Ataxia, Cerebellar hypoplasia, Generalized-onset seizure, Developmental regression, Generalized myoclonic seizures, Seizures - - Familial, autosomal recessive - 04y01m 03y - - Corina-Marcela Rus 00307864
0000233291 - - - Familial, autosomal recessive - 04y09m ? - - Corina-Marcela Rus 00307865
0000233292 Visual impairment, Delayed speech and language development, Seizures, Developmental regression Visual impairment, Delayed speech and language development, Seizures, Developmental regression - - Familial, autosomal recessive - 01y11m - - - Corina-Marcela Rus 00307866
0000233293 Intellectual disability, Seizures, Failure to thrive, Neurodegeneration, Generalized-onset seizure, Developmental regression - - Familial, autosomal recessive - 06y04m 03y - - Corina-Marcela Rus 00307867
0000233294 Seizures, Cerebellar atrophy, Myoclonus, Cerebral cortical atrophy, Loss of speech, Developmental regression - - Familial, autosomal recessive - 05y 03y - - Corina-Marcela Rus 00307868
0000233295 Seizures, Developmental regression - - Familial, autosomal recessive - 04y03m ? - - Corina-Marcela Rus 00307869
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