Disease #00068 (CLN3 (lipofuscinosis, ceroid, neuronal, type 3 (CLN3)), OMIM:204200)

Official abbreviation CLN3
Name lipofuscinosis, ceroid, neuronal, type 3 (CLN3)
OMIM ID 204200
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 13
Phenotype entries for this disease 13
Associated with 1 gene CLN3
Associated tissues -
Disease features -
Remarks -
Date created 2012-11-02 14:26:43 +01:00 (CET)
Date last edited 2021-01-18 10:01:26 +01:00 (CET)


Individuals

13 entries on 1 page. Showing entries 1 - 13.
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00307881 ? - - F ? Sweden - - - - - CLN3 - CLN3 CLN3 1 1 Corina-Marcela Rus
00307884 ? - - F ? (Sweden) - - - - - CLN3 - CLN3 CLN3 1 1 Corina-Marcela Rus
00307885 ? - - F yes Saudi Arabia - - - - - CLN3 Behavioural abnormality, Anxiety, Intellectual disability, Seizures, Ataxia, Developmental regression, Attention deficit hyperactivity disorder, Schizophrenia CLN3 CLN3 1 1 Corina-Marcela Rus
00307886 ? - - M yes Saudi Arabia - - - - - CLN3 Visual impairment, Rod-cone dystrophy, Macular degeneration, Optic atrophy, Eczema, Atopic dermatitis, Seborrheic dermatitis, Alopecia, Macular dystrophy, Abnormal blood zinc concentration, Mixed hypo- and hyperpigmentation of the skin, Localized skin lesion CLN3 CLN3 1 1 Corina-Marcela Rus
00307887 ? - - M yes Egypt - - - - - CLN3 Abnormal retinal morphology, Visual impairment, Visual loss, Seizures, Generalized tonic-clonic seizures, Developmental regression, Abnormality of the periventricular white matter, Foveal atrophy, CLN3 CLN3 1 1 Corina-Marcela Rus
00307888 ? - - M yes Egypt - - - - - CLN3 Abnormal retinal morphology, Visual impairment, Visual loss, Seizures, Generalized tonic-clonic seizures, Developmental regression, Abnormality of the periventricular white matter, Foveal atrophy CLN3 CLN3 1 1 Corina-Marcela Rus
00326995 CLN3_affected_males - - M yes Iraq Kurdish - - - - CLN3 HP:0005216, HP:0002015, HP:0000488, HP:0002345, HP:0000718, HP:0000713, HP:0005216, HP:0002015, HP:0002066, HP:0003434, HP:0001337 CLN3 CLN3 1 4 Ehsan Razmara
00402556 192476 - - M no Germany - - - - - CLN3 Seizure, Generalized-onset seizure, Myoclonic seizure, Delayed speech and language development CLN3 CLN3 1 1 Andreas Laner
00410182 V:3 PubMed: Sher 2019 - M yes Pakistan - - - - - CLN3 visual failure starting at the age of 7 years leading to complete blindness at the age of twelve years, seizures, mental deterioration, aggressive behavior, moderate intellectual disability, progressive inability to walk CLN3 CLN3 1 1 LOVD
00410183 V:4 PubMed: Sher 2019 - M yes Pakistan - - - - - CLN3 visual failure starting at the age of 7 years leading to complete blindness at the age of twelve years, seizures, mental deterioration, aggressive behavior, moderate intellectual disability, progressive inability to walk CLN3 CLN3 1 1 LOVD
00410184 V:3 PubMed: Sher 2019 - M yes Pakistan - - - - - CLN3 visual failure starting at the age of 7 years leading to complete blindness at the age of twelve years, seizures, mental deterioration, aggressive behavior, moderate intellectual disability, progressive inability to walk CLN3 CLN3 1 1 LOVD
00410185 V:4 PubMed: Sher 2019 - M yes Pakistan - - - - - CLN3 visual failure starting at the age of 7 years leading to complete blindness at the age of twelve years, seizures, mental deterioration, aggressive behavior, moderate intellectual disability, progressive inability to walk CLN3 CLN3 1 1 LOVD
00436419 2473654 Villafuerte-de la Cruz RA, et al., 2023. Submitted - F no Mexico Hispanic - - yes None CLN3 Reduced visual acuity HP:0007663, Nyctalopia HP:0000662, Peripheral visual field loss HP:0007994, Retinitis pigmentosa HP:0000510 CLN3 CLN3 2 1 Rocio Villafuerte-de la Cruz
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