All individuals with variants in gene CLN5

26 entries on 1 page. Showing entries 1 - 26.
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00290959 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 101 Mohammed Faruq
00290960 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 60 Mohammed Faruq
00290961 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00290962 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00295399 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 2 Mohammed Faruq
00304415 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 3 Mohammed Faruq
00307889 ? - - F yes Egypt - - - - - CLN5 Ataxia, Absence seizure, Frequent falls, Developmental regression, Abnormality of the cerebral white matter 1 1 Corina-Marcela Rus
00307890 ? - - M yes Egypt - - - - - CLN5 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 1 1 Corina-Marcela Rus
00307892 ? - - M ? Saudi Arabia - - - - - CLN5 Visual impairment, Seizures, Ataxia, Muscular hypotonia, Global developmental delay, Neurodegeneration 1 1 Corina-Marcela Rus
00307893 ? - - M ? Algeria - - - - - CLN5 - 1 1 Corina-Marcela Rus
00307897 ? - - M ? Germany - - - - - CLN5 - 1 1 Corina-Marcela Rus
00307898 ? - - F yes Iran - - - - - CLN5 Blindness, Intellectual disability, Ataxia, Spasticity, Gait disturbance, Skeletal muscle atrophy, Demyelinating peripheral neuropathy 1 1 Corina-Marcela Rus
00307899 ? - - F yes Egypt - - - - - CLN5 Abnormal electroretinogram, Intellectual disability, Seizures, Mental deterioration, Cerebellar atrophy, Hypertonia, Gait disturbance, Myoclonus, Generalized tonic-clonic seizures, Frequent falls, Abnormal muscle tone, Cognitive impairment 1 1 Corina-Marcela Rus
00374267 S-4390 PubMed: Ganapathy 2019 - - - India - - - - - ? Myoclonic jerks, progressive visual blurring and vision loss 1 1 Johan den Dunnen
00374268 S-3224 PubMed: Ganapathy 2019 - - - India - - - - - ? Abnormal gait, generalized seizures, ataxia, hypertonia, neuronal regression, progressive vision loss and retinitis pigmentosa 1 1 Johan den Dunnen
00384511 2 PubMed: Ren 2019 AR F no China - - - - - retinal disease - 2 1 LOVD
00384540 20 PubMed: Jilani 2019 - F ? - - - - - - CLN - 1 1 LOVD
00415322 ? PubMed: Craiu 2015 - F - Romania white - - - - retinal disease under average developmental milestones achievement, but within normal range until age 12m (head lift at 5m, sitting at 7m to standing around 12m, independent walking at 16m, voluntary grasping normally developed until age of 12m, syllables at age 5m, 3 meaningful words at age 12m); subsequently gradual loss of cognitive and motor abilities, difficulties in maintaining standing position associating frequent falls; acquirement of repetitive stereotypical non-purposeful hands movement in the midline (clapping, keeping them together and frequently introducing them in her mouth), starting around 18m; lost ambulation at age 3.5 years; clinical and neurological examination at admission 5y: head circumference: 47 cm (minus 2 standard deviations), cognitive development: ~18m, with speech impairment (8-10 meaningful words, 2 words sentences, mimicking telephone conversation); preserved vision (visual tracking of moving objects possible), motor development of 5m (head lift possible, rolling from prone to supine), axial hypotonia and limbs hypertonia with brisk deep tendon reflexes, mild truncal and limbs ataxia, combined with extrapyramidal symptoms (wide opening of the mouth), frequent episodes of spontaneous hyperventilation lasting 5-30 s; voluntary grasping present with midline stereotypical movements; magnetic resonance imaging, 5y: unnspecific abnormalities (mild global atrophy) - suspicion of Rett syndrome, but negative for MECP2 mutations. 6y: one event resembling a tonic-clonic nocturnal seizure and focal clonic seizures coming from the right hemisphere; neurological aspect was different: blindness, complete loss of purposeful hands use, no stereotypical hands movements, no spontaneous hyperventilation, mixed neurological signs: severe truncal and limbs ataxia, important contractures of soleus muscles with fixed equine position of both legs, brisk reflexes, intermittent opening of the mouth, and paroxysmal dystonic postures with extended upper and lower limbs; electroencephalogram: slow background with intermittent rhythmic delta activity runs of 2-12 s of 2.5-3.5 Hz bilateral rhythm of 70-200 mV amplitude separated by low-voltage 5-10 mV rhythms; intermittent light stimulation - no change; new MRI: more severe atrophic changes; ophthalmologic examination: pale papilla, significantly narrowed arteries and pigmentary areas in the peripheral retina; visual evoked potentials: severely prolonged conduction latencies; nerve conduction velocities: normal - absence in this moment of Rett symptoms, along with MRI abnormalities, were highly suggestive for neuronal ceroid-lipofuscinosis; bulbar conjunctive biopsy: abnormal curvilinear and fingerprint lysosomal deposits, consistent with the NCL diagnosis; no granular lipopigment (as described in CLN1 and CLN10) 1 1 LOVD
00427967 A001 PubMed: Bournazos 2022 family, 1 affected - - Australia - - - - - ? - 1 1 Johan den Dunnen
00435494 Pat11 PubMed: Rots 2023 family, affected adoptedhalf-brother/half-brother, mother with psychiatric problems not available for testing F - - - - - - - NDD see paper; ..., adopted with known history of gestational exposure to multiple drugs; language/speech delay; motor delay; intellectual disability; autism spectrum disorder; behavior problems; psychosis/schizophrenia; uses psychiatric drugs; no sleep disturbances; no seizures/epilepsy; hypotonia; abnormal movements; no spasticity; ataxia; no joint hypermobility; no syndactyly; no vertebral abnormalities; no abnormalities hand/foot/finger; no pectus excavatum; no dysmorphic features; no lip/cleft palate; no hypermetropia/myopia; no strabismus; normal hearing; no recurrent ear infections; vestibular aqueduct dilation; no congenital heart disease; carotid sinus hypermobility; no neonatal feeding difficulties; no gastroesophageal reflux; no constipation; no skin hyperlaxity; no genitourinary abnormalities; recurrent skin infections when younger 1 2 Johan den Dunnen
00447689 SCHI-87 PubMed: Weisschuh 2024 patient, no family history M - Germany - - - - - ? - 1 1 Johan den Dunnen
00456223 Pat1 PubMed: Fernandez-Marmiesse 2014 - M - Spain - - - - - ? see paper; ... (detailed) 2 1 Johan den Dunnen
00456258 Pat36 PubMed: Fernandez-Marmiesse 2014 - M - Spain - - - - - ? see paper; ... 1 1 Johan den Dunnen
00456263 Pat41 PubMed: Fernandez-Marmiesse 2014 - M - Spain - - - - - ? see paper; ... 1 1 Johan den Dunnen
00456268 Pat46 PubMed: Fernandez-Marmiesse 2014 - M - Spain - - - - - ? see paper; ... 1 1 Johan den Dunnen
00466866 - submitted - F no Japan Japanese >09y - - - CLN5 - 1 1 Tadashi Kaname
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