All individuals with variants in gene MT-CO1

4 entries on 1 page. Showing entries 1 - 4.
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00080796 - PubMed: Trujillano 2017 unaffected parents - - - - - - - - DLDD, MTCO1 Cytochrome c oxidase subunit I (OMIM:516030), Dihydrolipoamide dehydrogenase deficiency (OMIM:246900) 1 1 Daniel Trujillano
00427126 T2_10 PubMed: Widgren 2016 haplogroup T2, individual 10 - - - - - - - - retinal disease optic neuropathy 1 1 LOVD
00427138 H1_34 PubMed: Widgren 2016 haplogroup H1, individual 34 - - - - - - - - retinal disease nystagmus 1 1 LOVD
00427720 B6 PubMed: Palmer 2022 2-generation family, affected male, mother mosaic M - Mexico - - - - - NDD see paper; ..., age onset early childhood; moderate intellectual disability; Infantile hypotonia (son); recurrent otitis media requiring placement ventilation tubes (son); proband: bilateral optic nerve hypoplasia, myopia, astigmatism, strabismus (3y/9y-surgery), amblyopia left eye; delayed speech; attention deficit hyperactivity disorder, hyperkinesis, inattention, impulsiveness, obsessiveness, rigidity, anger outbursts; proband sees psychologist; 13y-onset seizures, focal onset frontal lobe hyper motor seizure; EEG (2008)-slowing in occipital region, EEG (2017)-slow background, no epileptiform discharges, EEG (2020)-normal, vEEG (2021)- 8 typical spells of arousing from sleep with altered behavior consistent with focal-onset frontal lobe seizure based on semiology, without clear consistent lateralized electroencephalographic seizure pattern discernible, recurrent frontotemporal epileptiform discharges in sleep with maximal negativity over the left or right anterior temporal region, recurrent - frequent frontal slow wave potentials in sleep; MRI brain partial agenesis and dysplasia of corpus callosum, hypoplastic optic nerves and chiasm; weight 25th - 50th centile; height 25th -50th centile; OFC 50th-98th centile; no dysmorphic feturres; severe constipation with encopresis, unexplained weight loss which resolved (BMI ~50% currently); elevated finger pads, fifth finger clinodactyly 1 2 Johan den Dunnen
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