Phenotypes for disease #00060 (CLN5 (lipofuscinosis, ceroid, neuronal, type 5 (CLN-5)), OMIM:256731)

7 entries on 1 page. Showing entries 1 - 7.
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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     
0000233312 - Familial, autosomal recessive - - 06y10m 05y - Ataxia, Absence seizure, Frequent falls, Developmental regression, Abnormality of the cerebral white matter - Corina-Marcela Rus 00307889
0000233313 - Familial, autosomal recessive - - 06y05m - - Intellectual disability, Ataxia, Gait ataxia, Neurological speech impairment, Abnormality of the cerebral white matter, Abnormality of the periventricular white matter, Abnormality of the cerebral cortex, Abnormal myelination, Abnormality of movement - Corina-Marcela Rus 00307890
0000233315 - Familial, autosomal recessive - - 11y - - Visual impairment, Seizures, Ataxia, Muscular hypotonia, Global developmental delay, Neurodegeneration - Corina-Marcela Rus 00307892
0000233316 - Familial, autosomal recessive - - ? ? - - - Corina-Marcela Rus 00307893
0000233320 - Familial, autosomal recessive - - 09y08m - - - - Corina-Marcela Rus 00307897
0000233321 - Familial, autosomal recessive - - 09y03m 06y - Blindness, Intellectual disability, Ataxia, Spasticity, Gait disturbance, Skeletal muscle atrophy, Demyelinating peripheral neuropathy - Corina-Marcela Rus 00307898
0000233322 - Familial, autosomal recessive - - 06y - - Abnormal electroretinogram, Intellectual disability, Seizures, Mental deterioration, Cerebellar atrophy, Hypertonia, Gait disturbance, Myoclonus, Generalized tonic-clonic seizures, Frequent falls, Abnormal muscle tone, Cognitive impairment - Corina-Marcela Rus 00307899
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