All individuals with variants in gene NUS1

11 entries on 1 page. Showing entries 1 - 11.
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00229646 - - - M - - - - - - - ? Ataxia (HP:0001251); Intellectual disability (HP:0001249) 1 1 IMGAG
00265728 - - - M - - - - - - - ? Seizures (HP:0001250); Ataxia (HP:0001251); Global developmental delay (HP:0001263); Tremor (HP:0001337); Hypophosphatemia (HP:0002148) 1 1 IMGAG
00307999 - - - M - - - - - - - ? Intellectual disability (HP:0001249); Seizures (HP:0001250); Dyskinesia (HP:0100660) 1 1 Andreas Laner
00334867 PME1 PubMed: Courage 2021, Journal: Courage 2021 - M no Italy - - - - - MRD Onset age 13 of frequent rest and action myoclonus, on background of mild learning difficulties. No seizures or ataxia. Normal cognition. 1 1 Carolina Courage
00334873 PME2 PubMed: Courage 2021, Journal: Courage 2021 - F no Italy - - - - - MRD Onset age 4 of febrile seizure and subsequent developmental regression. Daily absence seizures, associated with eyelid myoclonus from 4 years of age and upper limb myoclonus at 8 years of age. Stable ataxia, moderate cognitive decline noted. MRI: cerebellar atrophy. 1 1 Carolina Courage
00380219 182970 - - M no Germany - - - - - MRD55 Ataxia, Muscle weakness, Tremor, Involuntary movements, Abnormality of coordination, Abnormal muscle physiology 1 1 Andreas Laner
00438672 HSJ0623 PubMed: Hamdan 2017 WGS analysis 197 individuals with unexplained DEE (unaffected parents) - - Canada - - - - pharmaco-resistant seizures DEE see paper; ..., global developmental delay, moderate intellectual disability, autism spectrum disorder; 10m-seizures; EEG diffuse slowing, bi-frontal predominance or generalized spikes; MRI brain normal; ADHD, tremor, seizures controlled under VPA and CLB 1 1 Johan den Dunnen
00438673 HSJ0627 PubMed: Hamdan 2017 WGS analysis 197 individuals with unexplained DEE (unaffected parents) - - Canada - - - - pharmaco-resistant seizures DEE see paper; ..., motor delay, mild intellectual disability; 2y6m-seizures; EEG generalized spike-wave and poly-spike and wave; MRI brain normal; tremor, dysarthria, seizures controlled on VPA, LTG, and CZP 1 1 Johan den Dunnen
00438759 indvKW PubMed: Hamdan 2017 - M - United States - - - - - DEE see paper; ..., global developmental delay, severe intellectual disability; 12m-seizures; EEG bi-frontal predominance epileptiform; MRI brain normal; ataxia with LEV, lack of coordination, seizures controlled with LEV 1 1 Johan den Dunnen
00444098 Fam3PatII2 2-generation family, affected fetus/boy, unaffected heterozygous carrier parents PubMed: Bayam 2024 M yes Saudi Arabia Arab - - - - ? see paper; ..., pregnancy unremarkable; birth term, C-section, weight 3.09kg, length 52cm, OFC 34cm (-0.9 SD); weight 10.5kg (-2.98 SD), length 92cm (-1.32 SD), OFC 44cm (-3.7 SD); global developmental delay; not walking; no clear words; MRI brain 1y-widening bilateral ventricles, basal cisterns and cereberal cortical sulci suggestive of global brain volume loss, periventricular abnormal high signal intensity FLAIR, T1 and T2-weighted images suggestive of periventricular leukomalacia, bbrain appears small in size (microcephaly), corpus callosum very thin; EEG slow background activity, generalized and predominantly anterior spikes of epileptic discharge; no coordination; initial infantile hypotonia progressed to hypertonia/spasticity; hyperreflexia; not able to stand or walk; normal sensory; profound intellectual disability; myoclonic seizures then mixed seizures; persistent head lag, abnormality of ocular smooth pursuit; hypertelorism, medial flaring eye browes, thick upper and lower lips, elevated ear lobules, low auricle; flexion deformity at both ankles/wrists; no anomalies digestive organs; no hert defects; mild hydronephrotic changes in infantile period with normal renal biochemical function; older sibling 6y-deceased, severe neurodevelopmental disease, seizures 1 1 Zafer Yuksel
00451702 - - - F - - (not applicable) white - - - - autism HP:0000324, HP:0000717, HP:0000750, HP:0001288, HP:0006889, HP:0025502 1 1 Marketa Wayhelova
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