Phenotypes for disease #00068 (CLN3 (lipofuscinosis, ceroid, neuronal, type 3 (CLN3)), OMIM:204200)

14 entries on 1 page. Showing entries 1 - 14.
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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     
0000233306 - Familial, autosomal recessive - - 10y03m ? - - - Corina-Marcela Rus 00307881
0000233307 - Familial, autosomal recessive - - 10y03m ? - - - Corina-Marcela Rus 00307884
0000233308 - Familial, autosomal recessive - - 12y07m 06y - Behavioural abnormality, Anxiety, Intellectual disability, Seizures, Ataxia, Developmental regression, Attention deficit hyperactivity disorder, Schizophrenia - Corina-Marcela Rus 00307885
0000233309 - Familial, autosomal recessive - - 04y08m 00y09m - 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 - Corina-Marcela Rus 00307886
0000233310 - Familial, autosomal recessive - - 09y 06y - Abnormal retinal morphology, Visual impairment, Visual loss, Seizures, Generalized tonic-clonic seizures, Developmental regression, Abnormality of the periventricular white matter, Foveal atrophy, - Corina-Marcela Rus 00307887
0000233311 - Familial, autosomal recessive - - 09y 06y - Abnormal retinal morphology, Visual impairment, Visual loss, Seizures, Generalized tonic-clonic seizures, Developmental regression, Abnormality of the periventricular white matter, Foveal atrophy - Corina-Marcela Rus 00307888
0000245458 neuronal ceroid lipofuscinosis Familial, autosomal recessive >07y Batten disease - - - HP:0005216, HP:0002015, HP:0000488, HP:0002345, HP:0000718, HP:0000713, HP:0005216, HP:0002015, HP:0002066, HP:0003434, HP:0001337 - Ehsan Razmara 00326995
0000295318 3y Isolated (sporadic) 04y - - - - Seizure, Generalized-onset seizure, Myoclonic seizure, Delayed speech and language development - Andreas Laner 00402556
0000302286 - Familial, autosomal recessive 16y lipofuscinosis, ceroid, neuronal, type 3 (CLN3) - 7y visual impairment 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 - LOVD 00410182
0000302287 - Familial, autosomal recessive - lipofuscinosis, ceroid, neuronal, type 3 (CLN3) - 7y visual impairment 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 - LOVD 00410183
0000302288 - Familial, autosomal recessive 16y lipofuscinosis, ceroid, neuronal, type 3 (CLN3) - 7y visual impairment 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 - LOVD 00410184
0000302289 - Familial, autosomal recessive - lipofuscinosis, ceroid, neuronal, type 3 (CLN3) - 7y visual impairment 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 - LOVD 00410185
0000326600 20y Familial, autosomal recessive 20y, 70y - 70y 20y 20y Reduced visual acuity HP:0007663, Nyctalopia HP:0000662, Peripheral visual field loss HP:0007994, Retinitis pigmentosa HP:0000510 - Rocio Villafuerte-de la Cruz 00436419
0000352821 CLN3 Familial, autosomal recessive - - 17y - - - - Yasunari Sakai 00467610
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