Disease #01649

Official abbreviation CLN-2
Name lipofuscinosis, ceroid, neuronal, type 2 (CLN-2)
OMIM ID 204500
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 11
Phenotype entries for this disease 10
Associated with 1 gene TPP1
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Individuals

11 entries on 1 page. Showing entries 1 - 11.
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00080806 - Trujillano et al., submitted unaffected heterozygous carrier mother - - - - - 0 - - CLN-2 Ceroid lipofuscinosis, neuronal, 2 (OMIM:204500) TPP1 TPP1 2 1 Daniel Trujillano
00307860 ? - - M ? Egypt - - - - - CLN-2 Childhood-onset, Central hypotonia, Optic atrophy, Visual loss, Optic nerve misrouting, Neurodegeneration, Hyporeflexia, Developmental regression, Rod-cone dystrophy TPP1 TPP1 1 1 Corina-Marcela Rus
00307861 ? - - M yes Egypt - - - - - CLN-2 Nystagmus, Seizures, Global developmental delay, Fever, Abnormality of the cerebral white matter, Arachnoid cyst TPP1 TPP1 1 1 Corina-Marcela Rus
00307862 ? - - M ? Egypt - - 0 - - CLN-2 Intellectual disability, Ataxia, Motor delay, Cerebellar atrophy, Failure to thrive, Vomiting TPP1 TPP1 1 1 Corina-Marcela Rus
00307863 ? - - F no India - - - - - CLN-2 Seizures, Dystonia, Tremor, Absent speech, Global brain atrophy, Developmental regression, Loss of ability to walk in early childhood TPP1 TPP1 1 1 Corina-Marcela Rus
00307864 ? - - M no Tunisia - - - - - CLN-2 Ataxia, Cerebellar hypoplasia, Generalized-onset seizure, Developmental regression, Generalized myoclonic seizures, Seizures TPP1 TPP1 1 1 Corina-Marcela Rus
00307865 ? - - F ? Lebanon - - - - - CLN-2 - TPP1 TPP1 1 1 Corina-Marcela Rus
00307866 ? - - M yes Egypt - - 0 - - CLN-2 Visual impairment, Delayed speech and language development, Seizures, Developmental regression Visual impairment, Delayed speech and language development, Seizures, Developmental regression TPP1 TPP1 1 1 Corina-Marcela Rus
00307867 ? - - F yes Lebanon - - - - - CLN-2 Intellectual disability, Seizures, Failure to thrive, Neurodegeneration, Generalized-onset seizure, Developmental regression TPP1 TPP1 1 1 Corina-Marcela Rus
00307868 ? - - F yes Egypt - - - - - CLN-2 Seizures, Cerebellar atrophy, Myoclonus, Cerebral cortical atrophy, Loss of speech, Developmental regression TPP1 TPP1 1 1 Corina-Marcela Rus
00307869 ? - - F ? Oman - - - - - CLN-2 Seizures, Developmental regression TPP1 TPP1 1 1 Corina-Marcela Rus
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