All individuals with variants in gene ASAH1

55 entries on 1 page. Showing entries 1 - 55.
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00057784 - PubMed: Zhou 2012 2-generation family, affected child F no Italy - - - - - SMAPME normal early development, progressive muscle weakness; 10y-brief episodes unconsciousness, myoclonic jerks; 11y-diffuse muscle atrophy 2 1 Johan den Dunnen
00057785 - PubMed: Zhou 2012 2-generation family, unaffected father M no Italy - - - - - Healthy/Control - 1 1 Johan den Dunnen
00057786 - - family, 2 patients F yes Pakistan Pakistan >30y - - - SMA no death in teenage years, no myoclonic epilepsy, no serious pulmonary involvement; CPK: normal; waddling gait, limb weakness 2 2 Mirella Filocamo
00057787 - PubMed: Zhou 2012 4-generation family, 3 affecteds M yes Turkey - 13y - - - SMAPME proximal weakness, muscular atrophy; EMG chronic denervation; 7y-brief myoclonic seizures; CPK: normal; w14m 2 1 Johan den Dunnen
00057788 - PubMed: Zhou 2012 4-generation family, 3 affecteds F yes Turkey - 17y - - - SMAPME myoclonic epilepsy, muscle weakness from chronic denervation; CPK: normal 2 1 Johan den Dunnen
00057789 - PubMed: Zhou 2012 4-generation family, 3 affecteds F yes Turkey - 17y - - - SMAPME myoclonic epilepsy, muscle weakness from chronic denervation; CPK: normal 2 1 Johan den Dunnen
00057790 - PubMed: Zhou 2012 2-generation family, 2 affecteds F no Italy - >17y - - - SMAPME normal motor/intellectual milestones, progressive muscle weakness (lower then upper limbs); 12y-generalized epileptic seizures, numerous brief episodes unconsciousness, myoclonic jerks 2 1 Johan den Dunnen
00057791 - PubMed: Zhou 2012 2-generation family, 2 affecteds F no Italy - >17y - - - SMAPME normal motor/intellectual milestones, progressive muscle weakness (lower then upper limbs); 12y-generalized epileptic seizures, numerous brief episodes unconsciousness, myoclonic jerks 2 1 Johan den Dunnen
00057792 - PubMed: Zhou 2012 4-generation family, unaffected carrier parents - yes Turkey - - - - - Healthy/Control - 1 2 Johan den Dunnen
00057793 - PubMed: Zhou 2012 2-generation family, unaffected carrier parents - no Italy - - - - - Healthy/Control - 1 1 Johan den Dunnen
00057794 - PubMed: Zhou 2012 2-generation family, unaffected mother F no Italy - - - - - Healthy/Control - 1 1 Johan den Dunnen
00081021 - PubMed: Trujillano 2017 unaffected parents - - - - - - - - FRBRL Farber lipogranulomatosis (OMIM:228000) 1 1 Daniel Trujillano
00116818 S_13:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - - - - Healthy/Control - 1 1 Dheeraj Bobbili
00116833 S_156:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - - - - Healthy/Control - 1 1 Dheeraj Bobbili
00116834 S_158:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - - - - Healthy/Control - 1 1 Dheeraj Bobbili
00116836 S_165:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - - - - Healthy/Control - 1 1 Dheeraj Bobbili
00116854 S_2:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - - - - Healthy/Control - 1 1 Dheeraj Bobbili
00116880 S_265:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - - - - Healthy/Control - 1 1 Dheeraj Bobbili
00116889 S_279:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - - - - Healthy/Control - 1 1 Dheeraj Bobbili
00116890 S_280:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - - - - Healthy/Control - 1 1 Dheeraj Bobbili
00116934 S_382:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - - - - Healthy/Control - 1 1 Dheeraj Bobbili
00116952 S_429:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - - - - Healthy/Control - 1 1 Dheeraj Bobbili
00116958 S_446:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - - - - Healthy/Control - 1 1 Dheeraj Bobbili
00117000 S_527:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - - - - Healthy/Control - 1 1 Dheeraj Bobbili
00117013 S_562:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - - - - Healthy/Control - 1 1 Dheeraj Bobbili
00117029 S_583:0/1:TYPICAL_RE PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 194 RE cases - - - - - - - - epilepsy, Rolandic typical Rolandic epilepsy 1 1 Dheeraj Bobbili
00117065 S_651:0/1:TYPICAL_RE PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 194 RE cases - - - - - - - - epilepsy, Rolandic typical Rolandic epilepsy 1 1 Dheeraj Bobbili
00117067 S_654:0/1:TYPICAL_RE PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 194 RE cases - - - - - - - - epilepsy, Rolandic typical Rolandic epilepsy 1 1 Dheeraj Bobbili
00117114 S_755:0/1:TYPICAL_RE PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 194 RE cases - - - - - - - - epilepsy, Rolandic typical Rolandic epilepsy 1 1 Dheeraj Bobbili
00163649 van der Beek EJHG 2018 - - F no - - - - - - SMAPME - 2 1 Gisèle Bonne
00240408 patient PubMed: Kernohan 2017, PubMed: Fresard 2019 - M no Canada - - - - - SMA see paper; ..., sporadic and atypical form of spinal muscular atrophy 2 1 Johan den Dunnen
00294605 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 251 Mohammed Faruq
00294606 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 22 Mohammed Faruq
00294607 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00301342 Fam7 PubMed: Mahmoud 2020 3-generation family, 1 affected, unaffected parents M yes (Egypt) - 01y07m - - - FRBRL see paper; ..., severe; 22m-deceased; hoarseness of voice; joint pain, joint contractures; subcutaneous nodules; pulmonary disease, no cardiac disease; no organomegaly; developmental delay, no seizures 1 1 Mohamed A. Elmonem
00301411 Fam9 PubMed: Mahmoud 2020 2-generation family, 1 affected, unaffected parents F yes (Egypt) - >10y - - - EPM see paper; ..., moderate; no hoarseness of voice; no joint pain, no joint contractures; no subcutaneous nodules; no pulmonary disease, no cardiac disease; no organomegaly; fundus bilateral optic atrophy; developmental delay, seizures 1 1 Mohamed A. Elmonem
00301412 Fam13Pat13 PubMed: Mahmoud 2020 2-generation family, 2 affected sisters F yes (Egypt) - - - - - SMAPME see paper; ..., moderate; no hoarseness of voice; no joint pain, no joint contractures; no subcutaneous nodules; no pulmonary disease, no cardiac disease; no organomegaly; normal fundus; developmental delay, seizures 1 2 Mohamed A. Elmonem
00305187 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 8 Mohammed Faruq
00334911 PME9 PubMed: Courage 2021, Journal: Courage 2021 - M no Australia - - - - - SMAPME Onset age 10 of multifocal action and rest myoclonus, on a background of normal development and early severe hearing impairment (4y) . Subsequent progressive limb and bulbar weakness, tonic-clonic seiures (16 yr) and late cognitive decline. Rapidly progressive, death age 19. 2 1 Carolina Courage
00359554 177165 - - F - - - - - - - SMAPME (+) Ataxia,(+) Global developmental delay,(+) Profound global developmental delay,(+) Epileptic encephalopathy,(+) Akathisia 1 1 Andreas Laner
00456265 Pat43 PubMed: Fernandez-Marmiesse 2014 - M - Spain - - - - - ? see paper; ... 1 1 Johan den Dunnen
00467560 Fam1 PubMed: Mahmoud 2020 3-generation family, 1 affected, unaffected parents F yes Egypt - 2y7m - - - FRBRL see paper; ..., severe; 31m-deceased; hoarseness of voice; joint pain, joint contractures; subcutaneous nodules; pulmonary disease, cardiac disease; hepatosplenomegaly; normal fundus; developmental delay, no seizures 1 1 Mohamed A. Elmonem
00467561 Fam2 PubMed: Mahmoud 2020 5-generation family, 1 affected, unaffected parents M yes Egypt - - - - - FRBRL see paper; ..., moderate; hoarseness of voice; joint pain, joint contractures; subcutaneous nodules; pulmonary disease, no cardiac disease; no organomegaly; normal fundus; developmental delay, no seizures 1 1 Mohamed A. Elmonem
00467562 Fam3 PubMed: Mahmoud 2020 4-generation family, 1 affected, unaffected parents F yes Egypt - - - - - FRBRL see paper; ..., moderate; hoarseness of voice; joint pain, no joint contractures; subcutaneous nodules; no pulmonary disease, no cardiac disease; no organomegaly; normal fundus; no developmental delay, no seizures 1 1 Mohamed A. Elmonem
00467563 Fam4 PubMed: Mahmoud 2020 5-generation family, 6 affected sisters/brothers (2F, 4M), unaffected parents M yes Egypt - 2y10m - - - FRBRL see paper; ..., severe; 34m-deceased; hoarseness of voice; joint pain, joint contractures; subcutaneous nodules; pulmonary disease, cardiac disease; palpable liver; normal fundus; developmental delay, no seizures 1 6 Mohamed A. Elmonem
00467564 Fam5 PubMed: Mahmoud 2020 3-generation family, affected brother/sister, unaffected parents F yes Egypt - - - - - FRBRL see paper; ..., moderate; hoarseness of voice; joint pain, joint contractures; subcutaneous nodules; pulmonary disease, cardiac disease; no organomegaly; normal fundus; no developmental delay, no seizures 1 2 Mohamed A. Elmonem
00467565 Fam6 PubMed: Mahmoud 2020 3-generation family, 2 affected sisters, unaffected parents F yes Egypt - 1y10m - - - FRBRL see paper; ..., severe; 22m-deceased; hoarseness of voice; joint pain, joint contractures; subcutaneous nodules; no pulmonary disease, no cardiac disease; no organomegaly; normal fundus; no developmental delay, no seizures 1 2 Mohamed A. Elmonem
00467566 Fam8 PubMed: Mahmoud 2020 2-generation family, 1 affected, unaffected parents M yes Egypt - - - - - FRBRL see paper; ..., severe; hoarseness of voice; joint pain, joint contractures; subcutaneous nodules; no pulmonary disease, no cardiac disease; no organomegaly; developmental delay, no seizures 1 1 Mohamed A. Elmonem
00467567 Fam10 PubMed: Mahmoud 2020 5-generation family, 2 affected sisters, unaffected parents F yes Egypt - 2y7m - - - FRBRL see paper; ..., severe; 31m-deceased; hoarseness of voice; joint pain, joint contractures; subcutaneous nodules; no pulmonary disease, no cardiac disease; no organomegaly; normal fundus; no developmental delay, no seizures 1 2 Mohamed A. Elmonem
00467568 Fam11 PubMed: Mahmoud 2020 4-generation family, 1 affected, unaffected parents F yes Egypt - 2y3m - - - FRBRL see paper; ..., severe; 27m-deceased; hoarseness of voice; joint pain, joint contractures; subcutaneous nodules; no pulmonary disease, no cardiac disease; palpable liver; normal fundus; developmental delay, no seizures 1 1 Mohamed A. Elmonem
00467569 Fam12 PubMed: Mahmoud 2020 4-generation family, 1 affected, unaffected parents M yes Egypt - 3y - - - FRBRL see paper; ..., severe; 3y-deceased; hoarseness of voice; joint pain, joint contractures; subcutaneous nodules; no pulmonary disease, no cardiac disease; no organomegaly; normal fundus; developmental delay, no seizures 1 1 Mohamed A. Elmonem
00467570 Fam13Pat14 PubMed: Mahmoud 2020 sister F yes Egypt - - - - - SMA see paper; ..., mild; no hoarseness of voice; no joint pain, no joint contractures; no subcutaneous nodules; no pulmonary disease, no cardiac disease; no organomegaly; normal fundus; developmental delay, seizures 1 1 Mohamed A. Elmonem
00467571 Fam14 PubMed: Mahmoud 2020 5-generation family, 1 affected, unaffected parents M yes Egypt - 2y6m - - - SMA see paper; ..., severe; 30m-deceased; hoarseness of voice; joint pain, joint contractures; subcutaneous nodules; pulmonary disease, no cardiac disease; no organomegaly; normal fundus; developmental delay, no seizures 1 1 Mohamed A. Elmonem
00468646 - PubMed: Retterer 2016 analysis proband (1/3040); possible combination of variants not reported - - United States - - - - - ? - 1 1 Johan den Dunnen
00468647 - PubMed: Retterer 2016 analysis proband (1/3040); possible combination of variants not reported - - United States - - - - - ? - 1 1 Johan den Dunnen
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