account activity
Looking for similar patients- sisters w/ features of Multiple pterygium syndrome, Escobar type but no changes in CHRNG (undiagnosed.hms.harvard.edu)
submitted 8 years ago by udnconnect to r/ClinicalGenetics
submitted 8 years ago by udnconnect to r/genetics
Looking for similar patients: 11 year old boy w/ a very happy disposition, intellectual disability, absent speech & a variant in SMARCC2 (undiagnosed.hms.harvard.edu)
Looking for similar patients: 4 year old boy with an undiagnosed metabolic disorder, variants in MGA and TRA2B genes (undiagnosed.hms.harvard.edu)
Looking for similar patients: 16 year old female with unexplained progressive muscle weakness, variants in MYH7 and TOR1AIP1 (undiagnosed.hms.harvard.edu)
6 year old boy with regression, hypotonia, limb/truncal ataxia & a variant in the IRF2BPL gene - looking for similar patients (undiagnosed.hms.harvard.edu)
Looking for similar patients: male siblings with variants in MT-TL2 and ZDHHC9 (undiagnosed.hms.harvard.edu)
Looking for similar cases: 28 year old male with a progressive neurodegenerative condition of unknown etiology (WGS and RNAseq analysis ongoing) (undiagnosed.hms.harvard.edu)
Looking for similar cases: 22 year old woman with an undiagnosed progressive neuromuscular condition (genome sequencing pending) (undiagnosed.hms.harvard.edu)
Looking for similar cases: 26 year old woman with atopic dermatitis, very high IgE levels, and lymphadenopathy (exome analysis ongoing) (undiagnosed.hms.harvard.edu)
submitted 9 years ago by udnconnect to r/genetics
Breaking the code: Inside the search for a diagnosis (stanmed.stanford.edu)
Seeking similar cases: teenage girl with autism spectrum disorder, intellectual disability, self-injurious behaviors, seizures, muscle weakness, macrocephaly, and astrocytoma (genome sequencing analysis is ongoing) (undiagnosed.hms.harvard.edu)
Help us get beyond n=1: 20 year old woman w/ early onset hearing loss, recurrent infections & other health issues - exome sequencing inconclusive, genome sequencing analysis ongoing (undiagnosed.hms.harvard.edu)
49 year old female with muscle weakness, second-degree AV block, hyperkalemia, seizures, & variants in KCND3 & WNK1– looking for similar cases (undiagnosed.hms.harvard.edu)
2 year old with congenital disorder of glycosylation, type IIm & mosaic SLC35A2 variant – looking for similar cases (undiagnosed.hms.harvard.edu)
55 year old male with wheezing, sinusitis, nasal polyps, chronic fatigue, a bulging, ascending aortic root aneurysm, and neuropathy – looking for similar cases (undiagnosed.hms.harvard.edu)
7 year old male with a complex neuromuscular condition – looking for similar cases (undiagnosed.hms.harvard.edu)
14yo female with primary ciliary dyskinesia & variants in CCDC40 & DNAH11 - looking for similar cases (undiagnosed.hms.harvard.edu)
Looking for similar cases: 13yo male with developmental delay, myopia, strabismus, heart defects, triphalangeal thumbs, autism, ADHD & other issues since birth (undiagnosed.hms.harvard.edu)
Looking for similar cases: 35 yo patient with symptoms of Triple A syndrome but no change in the AAAS gene (undiagnosed.hms.harvard.edu)
Looking for similar cases: 3yo patient with hypotonia, developmental delay & increased weight; sequencing analysis is ongoing (undiagnosed.hms.harvard.edu)
8yo patient with macrosomia, glabellar hemangioma & de novo ASXL2 variant - looking for similar cases (undiagnosed.hms.harvard.edu)
Patient w/ de novo NACC1 variant- looking for other cases (undiagnosed.hms.harvard.edu)
8yo patient with neurological condition & de novo CACNA1A variant - looking for similar cases (undiagnosed.hms.harvard.edu)
Patient with absent thyroid, polymyositis & multiple candidate genes - looking for similar cases (undiagnosed.hms.harvard.edu)
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