Phenotypes for disease #00064 (CLN1 (lipofuscinosis, ceroid, neuronal, type 1 (CLN-1)), OMIM:256730)

9 entries on 1 page. Showing entries 1 - 9.
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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     
0000233278 - Familial, autosomal recessive - - 02y02m - - EEG abnormality, Leukodystrophy, Abnormality of the periventricular white matter - Corina-Marcela Rus 00307853
0000233279 - Familial, autosomal recessive - - 00y06m - - Optic disc pallor, Delayed speech and language development, Muscular hypotonia, Dystonia, Cerebral cortical atrophy, Exaggerated startle response, Developmental regression, Myoclonic spasms, Brain atrophy, Abnormality of movement - Corina-Marcela Rus 00307854
0000233280 - Familial, autosomal recessive - - ? ? - - - Corina-Marcela Rus 00307855
0000233281 - Familial, autosomal recessive - - 02y03m ? - - - Corina-Marcela Rus 00307856
0000233283 - Familial, autosomal recessive - - 02y 00y04m - Microcephaly, Motor delay, Frequent falls, Developmental regression, Bruxism - Corina-Marcela Rus 00307857
0000233284 - Familial, autosomal recessive - - 02y07m 01y - Microcephaly, Cerebellar atrophy, Cerebral cortical atrophy, Developmental regression, Brain atrophy - Corina-Marcela Rus 00307858
0000233285 - Familial, autosomal recessive - - 04y11m 00y08m - Microcephaly, Dementia, Cerebellar atrophy, Bulbar palsy, Spastic tetraparesis, Dysphagia, Cerebral atrophy, Generalized myoclonic seizures, Neurodegeneration, Developmental regression, Hyperkinesis, Brain atrophy - Corina-Marcela Rus 00307859
0000233286 - Familial, autosomal recessive - - 05y09m - - Childhood-onset, Central hypotonia, Optic atrophy, Visual loss, Optic nerve misrouting, Neurodegeneration, Hyporeflexia, Developmental regression, Rod-cone dystrophy - Corina-Marcela Rus 00307860
0000233296 - Familial, autosomal recessive - - 03y03m 01y05m - Visual impairment, Delayed speech and language development, Seizures, Global developmental delay, Generalized-onset seizure, Developmental regression - Corina-Marcela Rus 00307872
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