All individuals with variants in gene QARS

8 entries on 1 page. Showing entries 1 - 8.
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00016844 - PubMed: Zhang 2014 2-generation family, 2 affected borthers, heterozygous carrier parents (mother Raynaud disease, scleroderma; father ADHD), brother of patient II2 M no United States European - - - trials of phenobarbital, levetiracetam, lorazepam, topiramate, oxcarbazepine, valproic acid, gabapentin, lamotrigine, and clonazepam were ineffective in controlling the seizure activity MCPH1 Seizure Onset One hour after birth, Profound delays, cortical visual impairment, normal hearing, chronic constipation, tracheomalacia, possible tapetoretinal degeneration as seen in Leber's congential amaurosis, no meaningful visual response in either eye, nutrition by Gtube. Mixed hypotonia and hypertonia. Sloping forehead, bitemporal narrowing, hypotelorism, bilateral epicanthal folds, broad flat nasal bridge, high arched palate. At age 5 months skin exam with slightly raised red rash across his chest and abdomen. Microcephaly -4.8SD at 1.5 months; -10.4SD at 21months 2 2 Marianne Vos (LOVD-team)
00016845 - PubMed: Zhang 2014 brother of 24656866-Fam1PatII1 M no United States European - - - was treated with clonazepam and gabapentin regularly for seizures after 2 years of age. MCPH1 Seizure onset first day of life (frequent, recurring, longlasting), Profound delays, no constipation, can bubble, nystagmus, nutrition by Gtube. High muscle tone with brisk reflexes. Less of sloping forehead than brother, has bitemporal narrowing, epicanthal folds, hyptelorism, low set and posteriorly rotated ears, broad nasal bridge, high palate. Unremarkable skin exam. Microcephaly -5.8SD at 3 months; -7.8SD at 7 months. 2y:period of illness during which he was reported to have episodes characterized by sudden onset of constant kicking and thrashing, dehydration, pneumonia, and rhabdomyolysis with a peak creatine kinase level of >7,000 u/l, lasting 2m; 3y: similar period lasting 8m. 2 1 Marianne Vos (LOVD-team)
00016846 - PubMed: Zhang 2014 2-generation family, 2 affecteds (brother/sister), unaffected heterozygous carrier parents, brother of 24656866-FamIIPat2 M no France European - - - - MCPH1 born at 41w of gestation after uneventful pregnancy. At birth, he showed an OFC at 1 SD, normal body weight (tenth percentile), and normal height (51st percentile). Seizures 1st hour of life consisted clonic movements of the right hemiface and lower limbs, drooling, and cyanosis. Seizures were polymorphic, long lasting, and harmacoresistant. Ictal EEG showed a ‘‘migrating’’ pattern consistent with migrating partial seizures in infancy. He showed global hypotonia and lack of visual interaction. ;5.5y: profound psychomotor delay, microcephaly (3 SDs), active epilepsy with weekly seizures that were resistant to antiepileptic drugs (AEDs). Dysmorphisms: Coarse facies, hypoplastic helix of ear and prominent upper lip. 2 2 Marianne Vos (LOVD-team)
00016847 - PubMed: Zhang 2014 sister of 24656866-FamIIPat1 F no France European - - - - MCPH1 born full term after an uneventful pregnancy and delivery. OFC of 32 cm (1 SD), normal height (40th percentile), normal body weight (11th percentile). 1m: epilepsy, her first seizures were clonic with apnea and cyanosis. Clusters of focal polymorphic seizures then occurred about 2/month, were poorly controlled despite many AED trials. 5m: seizures occurred in clusters of 20–30 several times/day. Variable clinical manifestations: often mild and accompanied by eye deviation, chewing, apnea, cyanosis. Ictal EEG showed migrating focal seizures. 1y3m: head circumference below the 3d percentile, had severe hypotonia with global psychomotor delay. 3y: weekly seizures, failed to gain further developmental skills, microcephaly (2.5 SDs). 2 1 Marianne Vos (LOVD-team)
00092269 - PubMed: Tarailo-Graovac 2016, Journal: Tarailo-Graovac 2016 - - - United States - - - - - MSCCA profound IDD with developmental arrest, progressive microcephaly with diffuse supra-tentorial cerebral atrophy & severely deficient myelination, intractable seizures; serine deficiency 2 1 Johan den Dunnen
00293422 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 5 Mohammed Faruq
00324463 P5 PubMed: Fuchs 2019 - M - - - - - - - ? see paper; ... 2 1 Johan den Dunnen
00408084 11 PubMed: Alabdullatif 2017 - M yes United Arab Emirates - - - - - retinal disease 11 years old boy with developmental delay and intellectual disability. He had recurrent complex febrile seizure that resolved, hypotonia, nystagmus, underweight, short stature, and microcephaly. His brain MRI was normal. His parents were cousins and he had 7 brothers and 2 sisters all of whom were healthy. 1 1 LOVD
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