All individuals with variants in gene COQ4

51 entries on 1 page. Showing entries 1 - 51.
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00032398 Fam1PatII3;Fam18Pat21 PubMed: Brea-Calvo 2015, Journal: Brea-Calvo 2015, PubMed: Laugwitz 2022 2-generation family, 2 affecteds (F, M), unaffected heterozygous carrier parents M no Italy - 00y00m01d - - - COQ10D see paper; ... (esp. treatment), 1d-died cardio-respiratory failure; normal intrauterine growth; birth full term; normal growth; delayed motor development; delayed cognitive development; developmental stagnation/minimal development; truncal hypotonia; no stroke like episodes; 1d-respiratory distress/insufficiency; chf, hypertrophic septum, hypoplastic ventricles 1 2 Johan den Dunnen
00032399 Fam2PatII1;Fam19Pat22 PubMed: Brea-Calvo 2015, Journal: Brea-Calvo 2015, PubMed: Laugwitz 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Japan - 00y00m01d - - - COQ10D see paper; ... (esp. treatment), 1d-died cardio-respiratory failure; intrauterine growth restriction; birth preterm ; hypotrophic; delayed motor development; delayed cognitive development; developmental stagnation/minimal development; truncal hypotonia; no stroke like episodes; 1d-respiratory distress/insufficiency; hypertrophic ; intrauterine growth restriction, prenatal hypertrophic cardiomyopathy 2 1 Johan den Dunnen
00032400 Fam3PatII1;Fam20Pat23 PubMed: Brea-Calvo 2015, Journal: Brea-Calvo 2015, PubMed: Laugwitz 2022 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F no Austria - - - - - COQ10D see paper; ... (esp. treatment), 3d-died multi-organ failure; birth preterm ; delayed motor development; delayed cognitive development; developmental stagnation/minimal development; 1d-seizures, myoclonic; no stroke like episodes; encephalopathy; 3d-respiratory distress/insufficiency; no cardiomyopathy; distal arthrogryposis; prenatal ultrasound malformation of cerebellum 2 2 Johan den Dunnen
00032401 Fam4PatII1;Fam21Pat25 PubMed: Brea-Calvo 2015, Journal: Brea-Calvo 2015, PubMed: Laugwitz 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Italy - >18y - - - COQ10D see paper; ... (esp. treatment), normal intrauterine growth; birth full term; delayed motor development; delayed cognitive development; regression in development; 10m-ataxia; 3y-spasticity; tetraparesis/paraparesis; 12y-seizures, focal; stroke like episodes; sensory polyneuropathy; 2d-respiratory distress/insufficiency; feeding difficulties; scoliosis; MRI brain 12y-17y cerebellar atrophy (visual inspection); cerebral atrophy (visual inspection); parieto-occipital, gliosis; no cystic degeneration of cerebellum; no basal ganglia involvement; occipito-cortical, juxtacortical 1 1 Johan den Dunnen
00228188 - - - F - - - - - - - ? HP:0006789 (Mitochondrial encephalopathy) 1 1 IMGAG
00269886 - - - ? - - - - - - - ? Global developmental delay (HP:0001263); Microcephaly (HP:0000252); Short stature (HP:0004322); Muscular hypotonia of the trunk (HP:0008936); Spastic paraplegia (HP:0001258); Inability to walk (HP:0002540); Strabismus (HP:0000486); Abnormal visual fixation (HP:0025404); Anodontia (HP:0000674); Open mouth (HP:0000194); High palate (HP:0000218) 1 1 IMGAG
00303068 Pat110 PubMed: Helbig 2016 - - - United States - - - - - seizures Epileptic Encephalopathy, Infantile Spasms; age onset infantile 2 1 Johan den Dunnen
00403862 TF034 PubMed: Froukh 2020 analysis 103 families with neurodevelopmental disorders - - Jordan - - - - - NDD - 1 1 Johan den Dunnen
00416066 Fam3PatII3;Fam20Pat24 PubMed: Brea-Calvo 2015, Journal: Brea-Calvo 2015, PubMed: Laugwitz 2022 sister F no Austria - 00y00m02d - - - COQ10D see paper; ... (esp. treatment), 2d-died multi-organ failure; birth preterm ; delayed motor development; delayed cognitive development; developmental stagnation/minimal development; 1d-seizures; no stroke like episodes; 2d-respiratory distress/insufficiency; prenatal ultrasound cerebellar hypoplasia 2 1 Johan den Dunnen
00416067 Fam1Pat1 PubMed: Laugwitz 2022 - F yes Iraq - - - - - COQ10D see paper; ... (esp. treatment), normal intrauterine growth; birth preterm ; normal growth; delayed motor development; delayed cognitive development; regression in development; infantile dystonia; infancy spasticity; truncal hypotonia; 10w-seizures, focal seizures secondarily generalized; repetitive status epilepticus; no stroke like episodes; encephalopathy; no polyneuropathy; 1d-respiratory distress/insufficiency; feeding difficulties; no reaction to light or objects; no cardiomyopathy; dysmorphic features; intracerebral bleeding at age of 1 m; 20m-MRI brain cerebellar atrophy (visual inspection); cerebellum reduced in volume ; cerebellar hypoplasia; brainstem reduced in volume; pons area reduced in volume; cerebral atrophy (visual inspection); cerebrum reduced in volume ; no stroke-like abnormalities; cystic degeneration of cerebellum; no cystic degeneration (noncerebellar); no basal ganglia involvement; no T2/FLAIR abnormalities white matter; delayed myelination; delayed myelination 1 1 Johan den Dunnen
00416068 Fam2Pat2 PubMed: Laugwitz 2022 - F yes - Yemenite - - - - COQ10D see paper; ... (esp. treatment), hypotrophy, microcephaly; dystrophy, microcephaly; delayed motor development; delayed cognitive development; developmental stagnation/minimal development; infancy spasticity; tetraparesis/paraparesis; truncal hypotonia; no stroke like episodes; no polyneuropathy; feeding difficulties; poor fixation, strabismus divergens; no cardiomyopathy; 1y-MRI brain cerebellar hypoplasia; 1 1 Johan den Dunnen
00416069 Fam3Pat3 PubMed: Laugwitz 2022 - F yes Iran - - - - - COQ10D see paper; ... (esp. treatment), microcephaly; birth full term; dystrophy, microcephaly; delayed motor development; delayed cognitive development; developmental stagnation/minimal development; infancy spasticity; tetraparesis/paraparesis; truncal hypotonia; 8w-seizures, focal, secondarily generalized; no stroke like episodes; encephalopathy; no respiratory distress/insufficiency; feeding difficulties; poor fixation; no cardiomyopathy; arched eye brows, synorphys; MRI brain 3m-38m no cerebellar atrophy (visual inspection); cerebellum not reduced in volume; no cerebellar hypoplasia; brainstem not reduced in volume; pons area not reduced in volume; no cerebral atrophy (visual inspection); cerebrum not reduced in volume ; no stroke-like abnormalities; no cystic degeneration of cerebellum; no cystic degeneration (noncerebellar); no basal ganglia involvement; no T2/FLAIR abnormalities white matter; delayed myelination; delayed myelination 1 1 Johan den Dunnen
00416070 Fam4Pat4 PubMed: Laugwitz 2022 - F no Romania - - - - - COQ10D see paper; ... (esp. treatment), birth full term; secondary microcephaly; delayed motor development; delayed cognitive development; truncal hypotonia; 2m-seizures, focal, secondarily generalized; no stroke like episodes; encephalopathy; no polyneuropathy; no respiratory distress/insufficiency; no cardiomyopathy; no dysmorphic features; 2m-MRI brain no cerebellar atrophy (visual inspection); cerebellum reduced in volume ; cerebellar hypoplasia; brainstem reduced in volume; pons area not reduced in volume; no cerebral atrophy (visual inspection); cerebrum not reduced in volume ; no stroke-like abnormalities; cystic degeneration of cerebellum; no cystic degeneration (noncerebellar); no basal ganglia involvement; no T2/FLAIR abnormalities white matter; delayed myelination; delayed myelination 2 1 Johan den Dunnen
00416071 Fam5Pat5 PubMed: Laugwitz 2022 - F no Albania - - - - - COQ10D see paper; ... (esp. treatment), normal intrauterine growth; birth full term; secondary microcephaly; delayed motor development; delayed cognitive development; developmental stagnation/minimal development; 5m-spasticity; truncal hypotonia; 1w-seizures, tonic, generalized; status epilepticus; no stroke like episodes; encephalopathy; no polyneuropathy; 1d-apnea; no feeding difficulties; no visual fixation; hypertrophic myocardium; no dysmorphic features; 3m-MRI brain cerebellar atrophy (visual inspection); cerebellum reduced in volume ; cerebellar hypoplasia; brainstem reduced in volume; pons area reduced in volume; cerebral atrophy (visual inspection); cerebrum not reduced in volume ; no stroke-like abnormalities; cystic degeneration of cerebellum; no cystic degeneration (noncerebellar); no basal ganglia involvement; no T2/FLAIR abnormalities white matter; delayed myelination; delayed myelination 1 1 Johan den Dunnen
00416072 Fam6Pat6 PubMed: Laugwitz 2022 - F yes Turkey - - - - - COQ10D see paper; ... (esp. treatment), normal intrauterine growth; birth full term; secondary microcephaly; delayed motor development; delayed cognitive development; no regression in development; 15m-spasticity; no truncal hypotonia; 2,5y-seizures, generalized; no status epilepticus; no stroke like episodes; no encephalopathy; no respiratory distress/insufficiency; no feeding difficulties; no visual impairment/eye movement disorder; no cardiomyopathy; no dysmorphic features; 15m-MRI brain no cerebellar atrophy (visual inspection); no cerebellar hypoplasia; no cerebral atrophy (visual inspection); no stroke-like abnormalities; no cystic degeneration of cerebellum; no cystic degeneration (noncerebellar); bilateral, thalamic lesions; no T2/FLAIR abnormalities white matter; normal myelination; normal myelination 1 1 Johan den Dunnen
00416073 Fam7Pat7 PubMed: Laugwitz 2022 - M no - white - - - - COQ10D see paper; ... (esp. treatment), normal intrauterine growth; birth full term; delayed motor development; delayed cognitive development; no regression in development; ataxia; spasticity; no tetraparesis/paraparesis; truncal hypotonia; no seizures; no stroke like episodes; no encephalopathy; no respiratory distress/insufficiency; feeding difficulties; slow saccadic movements; no cardiomyopathy; no dysmorphic features; MRI brain 4y-5.25y cerebellar atrophy (visual inspection); cerebellum not reduced in volume; no cerebellar hypoplasia; brainstem not reduced in volume; pons area not reduced in volume; no cerebral atrophy (visual inspection); no stroke-like abnormalities; no cystic degeneration of cerebellum; no cystic degeneration (noncerebellar); no basal ganglia involvement; no T2/FLAIR abnormalities white matter; normal myelination; normal myelination 2 1 Johan den Dunnen
00416074 Fam8Pat8 PubMed: Laugwitz 2022 family, 2 affected F no Italy - - - - - COQ10D see paper; ... (esp. treatment), normal intrauterine growth; birth full term; normal growth; delayed motor development; delayed cognitive development; regression in development; no ataxia; no dystonia; no dysarthria; no dysmetria; no tremor; infancy spasticity; tetraparesis/paraparesis; 16m-seizures, generalized; repetitive status epilepticus; 16m-stroke like episodes; encephalopathy; sensory motor polyneuropathy; no respiratory distress/insufficiency; feeding difficulties; abnormal VEPs; no cardiomyopathy; no dysmorphic features; scoliosis, contractures; MRI brain 14,3y-18.7y cerebellar atrophy (visual inspection); cerebellum reduced in volume ; no cerebellar hypoplasia; brainstem reduced in volume; pons area not reduced in volume; cerebral atrophy (visual inspection); cerebrum reduced in volume ; parieto-occipital, ri>le; no cystic degeneration of cerebellum; no cystic degeneration (noncerebellar); no basal ganglia involvement; parieto-occipital; normal myelination; normal myelination 1 2 Johan den Dunnen
00416075 Fam8Pat9 PubMed: Laugwitz 2022 sib F no Italy - - - - - COQ10D see paper; ... (esp. treatment), normal intrauterine growth; birth full term; normal growth; delayed motor development; delayed cognitive development; regression in development; no ataxia; no dystonia; no dysarthria; no dysmetria; no tremor; infancy spasticity; tetraparesis/paraparesis; truncal hypotonia; 13m-seizures, generalized; repetitive status epilepticus; 13m-stroke like episodes; encephalopathy; sensory motor polyneuropathy; 18y-tracheostomy secondary to acute respiratory failure ; feeding difficulties; abnormal VEPs; no cardiomyopathy; no dysmorphic features; scoliosis, contractures; MRI brain 17,3y-19.4y cerebellar atrophy (visual inspection); cerebellum not reduced in volume; no cerebellar hypoplasia; brainstem not reduced in volume; pons area not reduced in volume; cerebral atrophy (visual inspection); cerebrum not reduced in volume ; occipito-parietal, gliosis; no cystic degeneration of cerebellum; no cystic degeneration (noncerebellar); no basal ganglia involvement; parieto-occipital; normal myelination; normal myelination 1 1 Johan den Dunnen
00416076 Fam9Pat10 PubMed: Laugwitz 2022 - M yes - Assyria;Suryoyo/Dutch - - - - COQ10D see paper; ... (esp. treatment), normal intrauterine growth; birth full term; secondary microcephaly; delayed motor development; delayed cognitive development; regression in development; 4m-ataxia; 2y-dystonia; dysarthria; dysmetria; no tremor; infancy spasticity; tetraparesis/paraparesis; truncal hypotonia; 2y-seizures, focal, tonic ; repetitive status epilepticus; 2y-repetitive stroke like episodes; encephalopathy; nocturnal apneic episodes; feeding difficulties; hyperopia, strabismus; no cardiomyopathy; large ears with overfolded helix, full eyebrows, depressed nasal root, short nose with bulbous tip, long philtrum, deep-set eyes, impression of hypertelorism, singular palmar crease bilateral; kyphoscoliosis; MRI brain 2y-6.25y cerebellar atrophy (visual inspection); cerebellum not reduced in volume; no cerebellar hypoplasia; brainstem not reduced in volume; pons area not reduced in volume; cerebral atrophy (visual inspection); cerebrum not reduced in volume ; parieto-occipital, gliosis; no cystic degeneration of cerebellum; no cystic degeneration (noncerebellar); no basal ganglia involvement; occipito-parietal, parasagittal cortico-subcortical lesions, oliguric formation; arachnoidal cyst; normal myelination; normal myelination 1 1 Johan den Dunnen
00416077 Fam10Pat11 PubMed: Laugwitz 2022 - F yes Albania Albania;Kosovar - - - - COQ10D see paper; ... (esp. treatment), normal intrauterine growth; birth full term; delayed motor development; delayed cognitive development; regression in development; 36m-ataxia; 2y-dysarthria; 3y-dysmetria; 3y-tremor; infancy spasticity; tetraparesis/paraparesis; truncal hypotonia; 5y-seizures, generalized tonic-clonic, apnea; repetitive status epilepticus; no stroke like episodes; encephalopathy; feeding difficulties; intermittent. divergent strabismus; no cardiomyopathy; no dysmorphic features; contractures, slight scoliosis; 6.25y-MRI brain no cerebellar atrophy (visual inspection); cerebellum not reduced in volume; no cerebellar hypoplasia; brainstem not reduced in volume; pons area not reduced in volume; no cerebral atrophy (visual inspection); no stroke-like abnormalities; no cystic degeneration of cerebellum; no cystic degeneration (noncerebellar); no basal ganglia involvement; no T2/FLAIR abnormalities white matter; normal myelination; normal myelination 1 1 Johan den Dunnen
00416078 Fam11Pat12 PubMed: Laugwitz 2022 - F yes - Arab - - - - COQ10D see paper; ... (esp. treatment), normal intrauterine growth; birth full term; secondary microcephaly; delayed motor development; delayed cognitive development; regression in development; 15m-ataxia; 15m-dystonia; dysarthria; dysmetria; tremor; 15m-spasticity; hemiparesis; truncal hypotonia; 2y-seizures, none under medication; 2y-status epilepticus ; 2y-stroke like episodes; encephalopathy; no polyneuropathy; no respiratory distress/insufficiency; no feeding difficulties; strabismus; no cardiomyopathy; short bulbous nose, broad nasal bridge, long philtrum, deep-set eyes, broad eyebrows, impression of hypertelorism; MRI brain 1y6m-normal, 3y3m-no cerebellar atrophy (visual inspection); no cerebellar hypoplasia; no cerebral atrophy (visual inspection); parieto-occipital ri>le; no cystic degeneration of cerebellum; no cystic degeneration (noncerebellar); no basal ganglia involvement; T2/FLAIR abnormalities white matter (white matter and cortical); enlarged supratentorial ventricles; normal myelination; normal myelination 1 1 Johan den Dunnen
00416079 Fam12Pat13 PubMed: Laugwitz 2022 - M - - - - - - - COQ10D see paper; ... (esp. treatment), microcephaly; delayed motor development; delayed cognitive development; regression in development; truncal hypotonia; seizures; MRI brain T2/FLAIR abnormalities white matter; delayed myelination; delayed myelination 1 1 Johan den Dunnen
00416080 Fam13Pat14 PubMed: Laugwitz 2022 - F - - - - - - - COQ10D see paper; ... (esp. treatment), microcephaly, hypotrophy; delayed motor development; truncal hypotonia; seizures; cortical visual impairment; no dysmorphic features; microcephaly with anterior forebrain most affected; 2 1 Johan den Dunnen
00416081 Fam14Pat15 PubMed: Laugwitz 2022 - M - - - - - - - COQ10D see paper; ... (esp. treatment), delayed motor development; delayed cognitive development; truncal hypotonia; 2 1 Johan den Dunnen
00416082 Fam15Pat16 PubMed: Laugwitz 2022 - F yes India Hindu Maharashtrian 6y - - - COQ10D see paper; ... (esp. treatment), 6y-died seizures; normal intrauterine growth; birth full term; microcephaly; delayed motor development; delayed cognitive development; no regression in development; 3m-ataxia; 6m-dystonia; no tremor; infancy spasticity; tetraparesis/paraparesis; truncal hypotonia; 3m-seizures, infantile spasms, later generalized tonic clonic seizures; no status epilepticus; no stroke like episodes; encephalopathy; polyneuropathy; no respiratory distress/insufficiency; feeding difficulties; no visual impairment/eye movement disorder; no cardiomyopathy; no dysmorphic features; 3y-MRI brain cerebellar atrophy (visual inspection); no cerebellar hypoplasia; cerebral atrophy (visual inspection); no stroke-like abnormalities; no cystic degeneration of cerebellum; no cystic degeneration (noncerebellar); no basal ganglia involvement; bilaterally symmetrical olivary nuclei hypertrophy, appearing hyperintense on T2W and FLAIR images, bilateral hippocampal atrophy, posterior limb of internal capsule showed hyperintense signal on T2W images; delayed myelination; delayed myelination 1 2 Johan den Dunnen
00416083 Fam15Pat16b PubMed: Laugwitz 2022 - M yes India Hindu Maharashtrian 4y - - - COQ10D see paper; ... (esp. treatment), 4y-died; infancy spasticity; tetraparesis/paraparesis; infancy seizures; encephalopathy; 1 1 Johan den Dunnen
00416084 FamPatIV1;Fam16Pat17 PubMed: Caglayan 2019, PubMed: Laugwitz 2022 4-generation family, affectd sister/brother M yes Turkey - - - - - COQ10D see paper; ... (esp. treatment), normal intrauterine growth; birth full term; delayed motor development; delayed cognitive development; regression in development; 8y-ataxia; dysarthria; dysmetria; childhood spasticity; tetraparesis/paraparesis; truncal hypotonia; 12y-seizures, partial; 8y-stroke like episodes; no encephalopathy; polyneuropathy; no respiratory distress/insufficiency; no feeding difficulties; no visual impairment/eye movement disorder; no cardiomyopathy; no dysmorphic features; 26y-MRI brain no cerebellar atrophy (visual inspection); no cerebral atrophy (visual inspection); stroke-like abnormalities; no cystic degeneration of cerebellum; no cystic degeneration (noncerebellar); no basal ganglia involvement; occipital cortical, subcortical hyperintensities; 1 2 Johan den Dunnen
00416085 FamPatIV3;Fam16Pat18 PubMed: Caglayan 2019, PubMed: Laugwitz 2022 brother F yes Turkey - - - - - COQ10D see paper; ... (esp. treatment), normal intrauterine growth; birth full term; delayed motor development; delayed cognitive development; regression in development; 8y-ataxia; dysarthria; dysmetria; childhood spasticity; no tetraparesis/paraparesis; no truncal hypotonia; 12y-seizures; 8y-stroke like episodes; no encephalopathy; polyneuropathy; no respiratory distress/insufficiency; no feeding difficulties; no visual impairment/eye movement disorder; no cardiomyopathy; no dysmorphic features; 27y-MRI brain no cerebellar atrophy (visual inspection); cerebellum not reduced in volume; no cerebellar hypoplasia; brainstem not reduced in volume; pons area not reduced in volume; cerebral atrophy (visual inspection); cerebrum not reduced in volume ; occipital-parietal and mediolateral, cortical and subcortical lesions, gliosis and oliguria; no cystic degeneration of cerebellum; no cystic degeneration (noncerebellar); no basal ganglia involvement; occipital cortical and subcortical hyperintensities; normal myelination; normal myelination 1 1 Johan den Dunnen
00416086 Pat1;Fam17Pat19 PubMed: Bosch 2018, PubMed: Laugwitz 2022 4-generation family, affected brother/sister M yes - - - - - - COQ10D see paper; ... (esp. treatment), delayed motor development; delayed cognitive development; regression in development; 4y-ataxia; dysarthria; 4y-tremor; childhood spasticity; tetraparesis/paraparesis; no truncal hypotonia; 12y-seizures, tonic-clonic; stroke like episodes; no respiratory distress/insufficiency; no feeding difficulties; no dysmorphic features; 5y-MRI brain no cerebral atrophy (visual inspection); no stroke-like abnormalities; no cystic degeneration of cerebellum; no basal ganglia involvement; tectal glioma; 1 2 Johan den Dunnen
00416087 Pat2;Fam17Pat20 PubMed: Bosch 2018, PubMed: Laugwitz 2022 sister F yes - - - - - - COQ10D see paper; ... (esp. treatment), delayed motor development; delayed cognitive development; regression in development; 10y-ataxia; 19y-tremor; no truncal hypotonia; 9y-seizures, tonic-clonic; 13y-stroke like episodes; no respiratory distress/insufficiency; no feeding difficulties; no dysmorphic features; MRI brain 9y-13y no cerebral atrophy (visual inspection); stroke-like abnormalities; no cystic degeneration of cerebellum; no basal ganglia involvement; parieto-occipital; cavernoma left parietal lobe; 1 1 Johan den Dunnen
00416088 Fam1Pat1;Fam22Pat26 PubMed: Chung 2015, PubMed: Laugwitz 2022 2 generation family, 2 affected sisters, unaffected heterozygous carrier parents F - - white;Hispanic 2m - - - COQ10D see paper; ... (esp. treatment), 2m-died cardio-respiratory failure; normal intrauterine growth; birth full term; delayed motor development; delayed cognitive development; developmental stagnation/minimal development; truncal hypotonia; 1d-seizures, generalized; no stroke like episodes; encephalopathy; 2m-respiratory distress/insufficiency; feeding difficulties; hypertrophic; glomerulosclerosis; 1w-MRI brain cerebellar hypoplasia; no stroke-like abnormalities; no cystic degeneration of cerebellum; no basal ganglia involvement; diffuse hyperintensities T2/FLAIR white matter; 2 2 Johan den Dunnen
00416089 Fam1Pat2;Fam22Pat26b PubMed: Chung 2015, PubMed: Laugwitz 2022 sister F - - white;Hispanic 3d - - - COQ10D see paper; ... (esp. treatment), 3d-died cardio-respiratory failure; normal intrauterine growth; birth full term; delayed motor development; delayed cognitive development; developmental stagnation/minimal development; 1d-seizures; 3d-respiratory distress/insufficiency; cardiomegaly; 2 1 Johan den Dunnen
00416090 Fam2;Fam23Pat27 PubMed: Chung 2015, PubMed: Laugwitz 2022 2 generation family, 1 affected, unaffected heterozygous carrier parents F - - Jew-Ashkenazi 4d - - - COQ10D see paper; ... (esp. treatment), 4d-died cardio-respiratory failure; hypotrophic intrauterine growth; birth full term; delayed motor development; delayed cognitive development; developmental stagnation/minimal development; truncal hypotonia; 1d-seizures, generalized; no stroke like episodes; encephalopathy; 4d-respiratory distress/insufficiency; hypertrophic ; no dysmorphic features; 28w prenatal ultrasound suggestive for cardiomyopathy, possible cerebellar hypoplasia and intrauterine growth restriction.; 1 1 Johan den Dunnen
00416091 Fam3Pat1;Fam24Pat28 PubMed: Chung 2015, PubMed: Laugwitz 2022 2 generation family, 2 affected sisters, unaffected heterozygous carrier parents F - - white 19m - - - COQ10D see paper; ... (esp. treatment), 19m-died; hypertrophic intrauterine growth; birth full term; delayed motor development; delayed cognitive development; developmental stagnation/minimal development; truncal hypotonia; 1d-seizures; no stroke like episodes; encephalopathy; 1d-respiratory distress/insufficiency; feeding difficulties; hypertrophic; decreased fetal movements; 1d-MRI brain cerebellar hypoplasia; cerebral atrophy (visual inspection); no stroke-like abnormalities; no cystic degeneration of cerebellum; 2 2 Johan den Dunnen
00416092 Fam3Pat2;Fam24Pat29 PubMed: Chung 2015, PubMed: Laugwitz 2022 sister F - - white 70d - - - COQ10D see paper; ... (esp. treatment), 70d-died coma; normal intrauterine growth; birth full term; normal growth; delayed motor development; delayed cognitive development; developmental stagnation/minimal development; no stroke like episodes; 1d-respiratory distress/insufficiency; feeding difficulties; no cardiomyopathy; cMRI prenatal normal; MRI brain prenatal-2d cerebellar hypoplasia; no cerebral atrophy (visual inspection); no stroke-like abnormalities; no cystic degeneration of cerebellum; no basal ganglia involvement; 2 1 Johan den Dunnen
00416093 Fam4;Fam25Pat30 PubMed: Chung 2015, PubMed: Laugwitz 2022 2 generation family, 2 affected sisters, unaffected heterozygous carrier parents F - - Jew-Ashkenazi 49d - - - COQ10D see paper; ... (esp. treatment), 49d-died; birth full term; delayed motor development; delayed cognitive development; developmental stagnation/minimal development; truncal hypotonia; 1d-seizures; no stroke like episodes; encephalopathy; 1d-respiratory distress/insufficiency; feeding difficulties; hypertrophic; hip dysplasia; 1w-MRI brain no cerebellar atrophy (visual inspection); no cerebral atrophy (visual inspection); no stroke-like abnormalities; no cystic degeneration of cerebellum; no basal ganglia involvement; 1 1 Johan den Dunnen
00416094 Pat;Fam26Pat31 PubMed: Sondheimer 2017, PubMed: Laugwitz 2022 2 generation family, 1 affected, unaffected heterozygous carrier parents M - - - 4m - - - COQ10D see paper; ... (esp. treatment), 4m-died cardio-respiratory failure; birth full term; microcephaly; delayed motor development; delayed cognitive development; developmental stagnation/minimal development; truncal hypotonia; 5d-seizures, generalized; no stroke like episodes; encephalopathy; 1d-respiratory distress/insufficiency; feeding difficulties reflux; structural abnormalities of the eyes; hypertrophic; hearing loss; MRI brain 1w-10w no cerebellar atrophy (visual inspection); cerebral atrophy (visual inspection); no stroke-like abnormalities; no cystic degeneration of cerebellum; no basal ganglia involvement; 3 1 Johan den Dunnen
00416095 Pat1;Fam27Pat32 PubMed: Yu 2019, PubMed: Laugwitz 2022 2 generation family, 1 affected, unaffected heterozygous carrier parents M - China - 8m - - - COQ10D see paper; ... (esp. treatment), 8m-died respiratory failure; intrauterine growth restriction; birth full term; delayed motor development; delayed cognitive development; developmental stagnation/minimal development; truncal hypotonia; 14d-seizures; no stroke like episodes; encephalopathy; 7d-respiratory distress/insufficiency; feeding difficulties; hypertrophic; intrauterine growth restriction; MRI brain 3w-3m cerebellar atrophy (visual inspection); no stroke-like abnormalities; no cystic degeneration of cerebellum; bilateral cystic degeneration (noncerebellar); basal ganglia involvement, hyperintensities of bilateral. lentiform nuclei; cystic infarcts after crisis; restricted diffusion bilateral frontal wm; 2 1 Johan den Dunnen
00416096 Pat2;Fam28Pat33 PubMed: Yu 2019, PubMed: Laugwitz 2022 2 generation family, 1 affected, unaffected heterozygous carrier parents M - China - 2d - - - COQ10D see paper; ... (esp. treatment), 2d-died respiratory failure; birth full term; delayed motor development; delayed cognitive development; developmental stagnation/minimal development; no stroke like episodes; 1d-respiratory distress/insufficiency; hypertrophic; 2 1 Johan den Dunnen
00416097 Pat3;Fam29Pat34 PubMed: Yu 2019, PubMed: Laugwitz 2022 2 generation family, 1 affected, unaffected heterozygous carrier parents F - China - - - - - COQ10D see paper; ... (esp. treatment), birth full term; delayed motor development; delayed cognitive development; developmental stagnation/minimal development; truncal hypotonia; 4m-seizures; no stroke like episodes; encephalopathy; 1d-respiratory distress/insufficiency; cardiogenic shock; 7w-MRI brain mild cerebellar hypoplasia; thinning corpus callosum; 1 1 Johan den Dunnen
00416098 Pat4;Fam30Pat35 PubMed: Yu 2019, PubMed: Laugwitz 2022 2 generation family, 2 affected sisters, unaffected heterozygous carrier parents F - China - - - - - COQ10D see paper; ... (esp. treatment), intrauterine growth restriction; birth full term; delayed motor development; delayed cognitive development; truncal hypotonia; 2m-seizures; no stroke like episodes; 1d-respiratory distress/insufficiency; left ventricular hypertrophy; intrauterine growth restriction; MRI brain 7d-9m cerebellar atrophy (visual inspection); cerebellar hypoplasia; cerebral atrophy (visual inspection), cystic changes; no stroke-like abnormalities; no cystic degeneration of cerebellum; cystic degeneration (noncerebellar) basal ganglia, wm, thalami; hyperintensity then cystic changes; thinning corpus callosum; 2 2 Johan den Dunnen
00416099 Pat5;Fam30Pat36 PubMed: Yu 2019, PubMed: Laugwitz 2022 sister F - China - 1y - - - COQ10D see paper; ... (esp. treatment), 1y-died respiratory failure; intrauterine growth restriction; birth full term; delayed motor development; delayed cognitive development; developmental stagnation/minimal development; truncal hypotonia; 2m-seizures; no stroke like episodes; 1d-respiratory distress/insufficiency; cardiomegaly; intrauterine growth restriction; 2 1 Johan den Dunnen
00416100 Pat6;Fam31Pat37 PubMed: Yu 2019, PubMed: Laugwitz 2022 2 generation family, 1 affected, unaffected heterozygous carrier parents M - China - - - - - COQ10D see paper; ... (esp. treatment), delayed motor development; delayed cognitive development; developmental stagnation/minimal development; infantile dystonia; truncal hypotonia; no stroke like episodes; feeding difficulties; cortical visual impairment; no cardiomyopathy; MRI brain 3w-1y4m no cerebellar atrophy (visual inspection); cerebral atrophy (visual inspection); no stroke-like abnormalities; no cystic degeneration of cerebellum; no basal ganglia involvement; 2 1 Johan den Dunnen
00416101 Pat7;Fam32Pat38 PubMed: Yu 2019, PubMed: Laugwitz 2022 2 generation family, 1 affected, unaffected heterozygous carrier parents F - China - 3y6m - - - COQ10D see paper; ... (esp. treatment), 3y6m-died; birth full term; delayed motor development; delayed cognitive development; developmental stagnation/minimal development; 5m-dystonia; 5m-spasticity; tetraparesis/paraparesis; no stroke like episodes; feeding difficulties; cortical visual impairment; no cardiomyopathy; 6m-MRI brain no cerebellar atrophy (visual inspection); cerebral atrophy (visual inspection); no stroke-like abnormalities; no cystic degeneration of cerebellum; no basal ganglia involvement; 1 1 Johan den Dunnen
00416102 Pat8;Fam33Pat39 PubMed: Yu 2019, PubMed: Laugwitz 2022 2 generation family, 1 affected, unaffected heterozygous carrier parents F - China - - - - - COQ10D see paper; ... (esp. treatment), birth full term; delayed motor development; delayed cognitive development; infantile dystonia; infancy spasticity; no truncal hypotonia; 6m-seizures, infantile spasm ; no stroke like episodes; cortical visual impairment; no cardiomyopathy; MRI brain 6m-35m cerebellar atrophy (visual inspection); cerebellar hypoplasia; cerebral atrophy (visual inspection); no cystic degeneration of cerebellum; hyperintensity left lentiform nucleus; 2 1 Johan den Dunnen
00416103 Pat9;Fam34Pat40 PubMed: Yu 2019, PubMed: Laugwitz 2022 2 generation family, 1 affected, unaffected heterozygous carrier parents M - China - - - - - COQ10D see paper; ... (esp. treatment), birth full term; delayed motor development; delayed cognitive development; no truncal hypotonia; 2m-seizures, infantile spasm ; no stroke like episodes; no visual impairment/eye movement disorder; no cardiomyopathy; 32m-MRI brain cerebellar atrophy (visual inspection); cerebral atrophy (visual inspection); no stroke-like abnormalities; no cystic degeneration of cerebellum; no basal ganglia involvement; thinning corpus callosum; 1 1 Johan den Dunnen
00416104 Pat10;Fam35Pat41 PubMed: Yu 2019, PubMed: Laugwitz 2022 2 generation family, 2 affected sisters, unaffected heterozygous carrier parents F - China - - - - - COQ10D see paper; ... (esp. treatment), birth preterm ; delayed motor development; delayed cognitive development; regression in development; truncal hypotonia; 2m-seizures; no stroke like episodes; 1d-respiratory distress/insufficiency; cortical blindness; dilated cardiomyopathy; 14m-MRI brain no cerebellar atrophy (visual inspection); no cerebral atrophy (visual inspection); no stroke-like abnormalities; no cystic degeneration of cerebellum; no basal ganglia involvement; mild thinning corpus callosum; 1 2 Johan den Dunnen
00416105 Pat11;Fam35Pat42 PubMed: Yu 2019, PubMed: Laugwitz 2022 sister F - China - 20m - - - COQ10D see paper; ... (esp. treatment), 20m-died sepsis; birth full term; delayed motor development; delayed cognitive development; 4m-spasticity; truncal hypotonia; 4m-seizures; no stroke like episodes; feeding difficulties; myocarditis; 1y-MRI brain cerebellar atrophy (visual inspection); cerebral atrophy (visual inspection); no stroke-like abnormalities; no cystic degeneration of cerebellum; white matter cystic changes; basal ganglia involvement; thinning corpus callosum; 1 1 Johan den Dunnen
00416106 FamPatII1;Fam36Pat43 PubMed: Lu 2019, PubMed: Laugwitz 2022 2-generation family, affected brother/sister M - China - 5m - - - COQ10D see paper; ... (esp. treatment), 5m-died metabolic crisis; birth full term; hypotrophic; delayed motor development; delayed cognitive development; developmental stagnation/minimal development; 1d-dystonia; truncal hypotonia; 2m-seizures, complex partial; no stroke like episodes; encephalopathy; respiratory distress/insufficiency; feeding difficulties; hearing impairment; 5m-MRI brain cerebellar atrophy (visual inspection); cerebral atrophy (visual inspection); no stroke-like abnormalities; no cystic degeneration of cerebellum; basal ganglia involvement; 1 2 Johan den Dunnen
00416107 FamPatII2;Fam36Pat44 PubMed: Lu 2019, PubMed: Laugwitz 2022 sister F - China - - - - - COQ10D see paper; ... (esp. treatment), birth full term; hypotrophic; delayed motor development; delayed cognitive development; 1d-dystonia; truncal hypotonia; 2m-seizures; no stroke like episodes; encephalopathy; respiratory distress/insufficiency; feeding difficulties; nystagmus; MRI brain 1m-normal, 4m-cerebellar atrophy (visual inspection); cerebral atrophy (visual inspection); no stroke-like abnormalities; no cystic degeneration of cerebellum; bilateral, sym. midbrain and basal ganglia lesions; 1 1 Johan den Dunnen
00424945 Fam10 PubMed: Jurkute 2022 2-generation family, 1 affected, unaffected parents F - United Kingdom (Great Britain) - - - - - RP 29y-incidental finding during routine check-up; 35y-vision problems prolonged dark adaptation, followed by vision problems in dark; retinitis pigmentosa, hyperopia, attenuated retinal vessels; hypertension,52y-breast carcinoma 2 1 Johan den Dunnen
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