All individuals with variants in gene WARS2

24 entries on 1 page. Showing entries 1 - 24.
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00000208 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml) 3 1 Yu Sun
00000209 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml) 3 1 Yu Sun
00092293 Fam2PatV7 PubMed: Musante 2017, Journal: Musante 2017 6-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents/relatives F yes Iran Iran (Semnan province) - - - - MRT birth 38w; weight normal for age and height, height 150cm (-2SD), OFC 52cm (-2SD); long philtrum; delyed psychomotor development; ataxia; muscle weakness; no seizure; aggressive behavior, temper tantrums; speech impairment; moderate intellectual disability (IQ 46); athetosis 2 3 Luciana Musante
00119093 FAM1PATII1 PubMed: Wortmann 2017, Journal: Wortmann 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Serbia Slowakia 00y00m23d - - - ? 23d-died (multi organ failure); neonatal onset; low birth weight, lactic acidosis (HP:0003128); encephalopathy (HP:0001298); decreased muscle tone; impaired suckling/swallowing; no epilepsy; intestinal pseudoobstruction; ultrasound neonatal unremarkable; max. serum lactate 25 mmol/l 2 1 Saskia Wortmann
00119094 Fam2PatII1 PubMed: Wortmann 2017, Journal: Wortmann 2017 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M - Netherlands - 03y06m - - - ? 3y6m-died (respiratory failure); neonatal onset; low birth weight, lactic acidosis (HP:0003128), low blood glucose; severe intellectual disability, developmental delay; increased muscle tone; dystonia; impaired suckling/swallowing; epilepsy; MRI-brain white matter defects with absent myelinisation; encephalopathy (HP:0001298) 2 2 Saskia Wortmann
00119095 Fam3PatII1 PubMed: Wortmann 2017, Journal: Wortmann 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents F - France - 03y - - - ? 3y-died (epilepsy); onset 4m-muscular hypotonia, strabismus; unremarkable neonatal course; severe intellectual disability, developmental delay; decreased muscle tone; no movement disorder; epilepsy; cardiomyopathy, retinitis pigmentosa; lactic acidosis (HP:0003128), encephalopathy (HP:0001298) 2 1 Saskia Wortmann
00119096 Fam4PatII3 PubMed: Wortmann 2017, Journal: Wortmann 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Iraq - >03y - - - ? onset 13m-developmental delay, movement disorder; severe intellectual disability, developmental delay; decreased muscle tone, increased muscle tone; dystonia; impaired suckling/swallowing; suspected epilepsy; MRI-brain 13m-hypoxemic‐ischemic basal ganglia lesions; max. serum lactate 2.1 mmol/l, lactic acidosis (HP:0003128); encephalopathy (HP:0001298) 1 1 Saskia Wortmann
00119097 Fam5PatIIi PubMed: Wortmann 2017, Journal: Wortmann 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Canada - >10y - - - ? onset 18m-developmental delay; unremarkable neonatal course; mild/moderate intellectual disability, severe developmental delay; increased muscle tone; ataxia; no impaired suckling/swallowing; no epilepsy; mild nystagmus, optic atrophy, no visual impairment; MRI-brain 1y6m-cerebral atrophy, 4y-cerebellar atrophy; max. serum lactate 2.9 mmol/l, lactic acidosis (HP:0003128); encephalopathy (HP:0001298) 2 1 Saskia Wortmann
00328822 Fam2PatV8 PubMed: Musante 2017, Journal: Musante 2017 sister F yes Iran Iran (Semnan province) - - - - MRT birth 37w; weight normal for age and height, height 151cm (-2SD), OFC 54cm (0SD); long philtrum; delyed psychomotor development; ataxia; muscle weakness; no seizure; aggressive behavior, temper tantrums; speech impairment; moderate intellectual disability (IQ 41); athetosis 2 1 Luciana Musante
00328827 Fam2PatII2 PubMed: Wortmann 2017, Journal: Wortmann 2017 brother M - Netherlands - 1y6m - - - ? 1y6m-died (epilepsy); neonatal onset; low birth weight, (HP:0003128), hypoglycaemia; severe intellectual disability, developmental delay; increased muscle tone; impaired suckling/swallowing; epilepsy; MRI-brain neonatal white matter edema, 18m-frontal atrophy; max. serum lactate 15 mmol/l; encephalopathy (HP:0001298) 2 1 Johan den Dunnen
00328829 patient PubMed: Theisen 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents M no - Europe - - - - ? see paper; ..., 24y-deceased; neonatal onset; ataxia; dystonia; action tremor; hypotonia; seizures; intellectual disability; growth retardation; exotropia, amblyopia, horizontal nystagmus, diffuse weakness, spastic quadriplegia 2 1 Johan den Dunnen
00441929 Fam1Pat1 PubMed: Skorvanek 2022 2-generation family, 2 affected, unaffected heterozygous carrier father M - Slovakia (Slovak Republic) - - - - - ? see paper; ..., Parkinsonism; dystonia; chorea, drug-induced dyskinesia; action tremor; spasticity; sinus tachycardia, aggressive behavior, anxiety, depression, psychosis 2 2 Johan den Dunnen
00441930 Fam1Pat2 PubMed: Skorvanek 2022 sister F - Slovakia (Slovak Republic) - - - - - ? see paper; ..., Parkinsonism; dystonia; myoclonus; action tremor; spasticity; psychosis, anxiety, depression 2 1 Johan den Dunnen
00441931 Fam2Pat3 PubMed: Skorvanek 2022 2-generation family, 2 affected, unaffected heterozygous carrier parents F - Czech Republic - - - - - ? see paper; ..., ataxia; dystonia; myoclonus; action tremor; intellectual disability 2 2 Johan den Dunnen
00441932 Fam2Pat4 PubMed: Skorvanek 2022 brother M - Czech Republic - - - - - ? see paper; ..., ataxia; dystonia; myoclonus; action tremor; spasticity; intellectual disability; social phobia, slowed saccades, spasticity 2 1 Johan den Dunnen
00441933 Fam3Pat5 PubMed: Skorvanek 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Switzerland - - - - - ? see paper; ..., dystonia; myoclonus; chorea; action tremor; spasticity; growth retardation; speech delay, spasticity, dysphagia 2 1 Johan den Dunnen
00441934 Fam4Pat6 PubMed: Skorvanek 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Germany - - - - - ? see paper; ..., neonatal onset; ataxia; action tremor; intellectual disability; growth retardation; unstable body temperature, paroxysmal exercise-induced leg weakness 2 1 Johan den Dunnen
00441935 patient PubMed: Vantroys 2018 - F - Belgium - 6y6m - - - ? see paper (Skorvanek); ..., 6y6m-deceased; dystonia; chorea; hypotonia; seizures; intellectual disability; growth retardation; optic atrophy, weakness, acute hepatopathy, thin upper lip, low set ears, broad nasal bridge, hypertelorism, ogival palate 2 1 Johan den Dunnen
00441936 patient PubMed: Burke 2018 - M - - Europe - - - - ? see paper (Skorvanek); ..., Parkinsonism; dystonia; chorea, drug-induced dyskinesia; action tremor; chronic headache 2 1 Johan den Dunnen
00441937 patient PubMed: Virdee 2019 - F - Netherlands - - - - - ? see paper (Skorvanek); ..., infantile onset; Parkinsonism; ataxia; action tremor; intellectual disability; growth retardation 2 1 Johan den Dunnen
00441938 patient PubMed: Hubers 2019 - M - Germany - - - - - ? see paper (Skorvanek); ..., dystonia; chorea; intellectual disability 2 1 Johan den Dunnen
00441939 FamPatII1 PubMed: Maffezzini 2019 2-generation family, 2 affected, unaffected heterozygous carrier father F - Sweden - - - - - ? see paper (Skorvanek); ..., ataxia; spasticity, hypotonia; seizures; intellectual disability; growth retardation; congenital atrial septum defect, strabismus, visual impairment, weakness, severe obstipation, sleep problems 2 2 Johan den Dunnen
00441940 FamPatII2 PubMed: Maffezzini 2019 sister F - Sweden - - - - - ? see paper (Skorvanek); ..., spasticity, hypotonia; seizures; intellectual disability; growth retardation; congenital septal defect, strabismus, obstipation, sleeping problems 2 1 Johan den Dunnen
00441941 PatAV07 PubMed: Martinelli 2020 - M - Italy - - - - - ? see paper (Skorvanek); ..., Parkinsonism; dystonia; chorea, drug-induced dyskinesia; action tremor; seizures; oculogyric crisis, ptosis, supranuclear gaze palsy, exotropia 2 1 Johan den Dunnen
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