Disease #00060

Official abbreviation CLN-5
Name lipofuscinosis, ceroid, neuronal, type 5 (CLN-5)
OMIM ID 256731
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 7
Phenotype entries for this disease 7
Associated with 1 gene CLN5
Associated tissues -
Disease features -
Remarks -


Individuals

7 entries on 1 page. Showing entries 1 - 7.
Legend  

AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Genes screened

Variants in genes

Variants     

Panel size     

Owner     
00307889 ? - - F yes Egypt - - - - - CLN-5 Ataxia, Absence seizure, Frequent falls, Developmental regression, Abnormality of the cerebral white matter CLN5 CLN5 1 1 Corina-Marcela Rus
00307890 ? - - M yes Egypt - - - - - CLN-5 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 CLN5 CLN5 1 1 Corina-Marcela Rus
00307892 ? - - M ? Saudi Arabia - - - - - CLN-5 Visual impairment, Seizures, Ataxia, Muscular hypotonia, Global developmental delay, Neurodegeneration CLN5 CLN5 1 1 Corina-Marcela Rus
00307893 ? - - M ? Algeria - - - - - CLN-5 - CLN5 CLN5 1 1 Corina-Marcela Rus
00307897 ? - - M ? Germany - - - - - CLN-5 - CLN5 CLN5 1 1 Corina-Marcela Rus
00307898 ? - - F yes Iran - - - - - CLN-5 Blindness, Intellectual disability, Ataxia, Spasticity, Gait disturbance, Skeletal muscle atrophy, Demyelinating peripheral neuropathy CLN5 CLN5 1 1 Corina-Marcela Rus
00307899 ? - - F yes Egypt - - - - - CLN-5 Abnormal electroretinogram, Intellectual disability, Seizures, Mental deterioration, Cerebellar atrophy, Hypertonia, Gait disturbance, Myoclonus, Generalized tonic-clonic seizures, Frequent falls, Abnormal muscle tone, Cognitive impairment CLN5 CLN5 1 1 Corina-Marcela Rus
Legend