All individuals with variants in gene WARS2

11 entries on 1 page. Showing entries 1 - 11.
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00000208 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 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 - - 0 - - 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) - 0 - - 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 0 - - ? 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 0 - - ? 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 0 - - ? 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 0 - - ? 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 0 - - ? 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) - 0 - - 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 0 - - ? 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 - 0 - - ? see paper; ... 2 1 Johan den Dunnen
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