All individuals with variants in gene SORD

50 entries on 1 page. Showing entries 1 - 50.
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00301208 Fam1Case1 PubMed: Cortese 2020 Family, 2 affected F - United States white - - - - neuropathy mild severity; axonal motor NCS motor NCS 1 2 Johan den Dunnen
00301209 Fam1Case2 PubMed: Cortese 2020 - F - United States white - - - - neuropathy mild severity; axonal motor NCS 1 1 Johan den Dunnen
00301210 Fam2Case3 PubMed: Cortese 2020 no Family history M - Greece white - - - - neuropathy mild severity; axonal motor NCS; sensory NCS upper limbs reducedl, sensory NCS lower limbs absent; Rapid onset after flu-like syndrome, upper limb tremor 2 1 Johan den Dunnen
00301211 Fam3Case4 PubMed: Cortese 2020 no Family history M - France white - - - - neuropathy moderate severity; intermediate motor NCS; sensory NCS upper limbs reducedl, sensory NCS lower limbs reduced; upper limb tremor, mild hearing loss 2 1 Johan den Dunnen
00301212 Fam4Case5 PubMed: Cortese 2020 no Family history M - Netherlands white - - - - neuropathy mild severity; axonal motor NCS; sensory NCS upper limbs reducedl, sensory NCS lower limbs normal; muscle ache, raised CK up to 1200 IU, scapular winging 1 1 Johan den Dunnen
00301213 Fam5Case6 PubMed: Cortese 2020 no Family history M - United States white - - - - neuropathy mild severity; axonal motor NCS; sensory NCS upper limbs normal, sensory NCS lower limbs normal; upper limb tremor 1 1 Johan den Dunnen
00301214 Fam6Case7 PubMed: Cortese 2020 no Family history F - United States white - - - - neuropathy mild severity; axonal motor NCS; sensory NCS upper limbs normal, sensory NCS lower limbs normal 1 1 Johan den Dunnen
00301215 Fam7Case8 PubMed: Cortese 2020 Family history M - Iraq Middle Eastern - - - - neuropathy mild severity; axonal motor NCS; sensory NCS upper limbs normal, sensory NCS lower limbs reduced 1 1 Johan den Dunnen
00301216 Fam8Case9 PubMed: Cortese 2020 no Family history F - United States white - - - - neuropathy mild severity; intermediate motor NCS; sensory NCS upper limbs normal, sensory NCS lower limbs normal; rapid worsening 1 1 Johan den Dunnen
00301217 Fam9Case10 PubMed: Cortese 2020 no Family history M - United States white - - - - neuropathy mild severity; intermediate motor NCS; sensory NCS upper limbs reducedl, sensory NCS lower limbs normal; upper limb tremor 1 1 Johan den Dunnen
00301218 Fam10Case11 PubMed: Cortese 2020 no Family history F - United States white;African American - - - - neuropathy mild severity; intermediate motor NCS; sensory NCS upper limbs normal, sensory NCS lower limbs reduced 1 1 Johan den Dunnen
00301219 Fam11Case12 PubMed: Cortese 2020 no Family history M - United Kingdom (Great Britain) white - - - - neuropathy mild severity; axonal motor NCS; sensory NCS upper limbs reducedl, sensory NCS lower limbs normal; stress fractures 1 1 Johan den Dunnen
00301220 Fam12Case13 PubMed: Cortese 2020 no Family history M - United Kingdom (Great Britain) white - - - - neuropathy moderate severity; axonal motor NCS; sensory NCS upper limbs reducedl, sensory NCS lower limbs normal; Left peroneal nerve mononeuropathy 1 1 Johan den Dunnen
00301221 Fam13Case14 PubMed: Cortese 2020 no Family history M - Germany white - - - - neuropathy mild severity; axonal motor NCS; sensory NCS lower limbs normal; Complex ataxo-spastic syndrome entailing mental retardation (since age 3), coarse facial features, bulky stature 1 1 Johan den Dunnen
00301222 Fam14Case15II1 PubMed: Cortese 2020 Family, 2 affected M - Austria white - - - - neuropathy moderate severity; intermediate motor NCS; sensory NCS upper limbs reducedl; upper limb distal weakness and tremor 2 2 Johan den Dunnen
00301223 Fam14Case16II2 PubMed: Cortese 2020 - F - Austria white - - - - neuropathy mild severity; intermediate motor NCS; sensory NCS upper limbs reducedl 2 1 Johan den Dunnen
00301224 Fam15Case17 PubMed: Cortese 2020 no Family history F - Egypt Middle Eastern, Bedouin - - - - neuropathy mild severity; axonal motor NCS; sensory NCS upper limbs reducedl, sensory NCS lower limbs reduced; upper limb tremor 1 1 Johan den Dunnen
00301225 Fam16Case18 PubMed: Cortese 2020 no Family history M - United Kingdom (Great Britain) white - - - - neuropathy mild severity; axonal motor NCS; sensory NCS upper limbs absent, sensory NCS lower limbs normal 1 1 Johan den Dunnen
00301226 Fam17Case19 PubMed: Cortese 2020 no Family history M - Singapore East Asian - - - - neuropathy moderate severity; axonal motor NCS; sensory NCS upper limbs reducedl, sensory NCS lower limbs normal 1 1 Johan den Dunnen
00301227 Fam18Case20II2 PubMed: Cortese 2020 Family, 2 affected F - Egypt Middle Eastern - - - - neuropathy moderate severity; axonal motor NCS; sensory NCS upper limbs normal, sensory NCS lower limbs absent; burning pain in hands and feet 1 2 Johan den Dunnen
00301228 Fam18Case21II3 PubMed: Cortese 2020 - M - Egypt Middle Eastern - - - - neuropathy moderate severity; intermediate motor NCS; sensory NCS upper limbs normal, sensory NCS lower limbs absent 1 1 Johan den Dunnen
00301229 Fam19Case22I1 PubMed: Cortese 2020 Family, 3 affected M - Egypt Middle Eastern - - - - neuropathy severe severity 1 3 Johan den Dunnen
00301230 Fam19Case23II2 PubMed: Cortese 2020 - M - Egypt Middle Eastern - - - - neuropathy moderate severity 1 1 Johan den Dunnen
00301231 Fam19Case24II3 PubMed: Cortese 2020 - M - Egypt Middle Eastern - - - - neuropathy mild severity 1 1 Johan den Dunnen
00301232 Fam20Case25II3 PubMed: Cortese 2020 Family history M - Kuwait Middle Eastern - - - - neuropathy mild severity; intermediate motor NCS; sensory NCS upper limbs normal, sensory NCS lower limbs reduced 1 1 Johan den Dunnen
00301233 Fam21Case26 PubMed: Cortese 2020 no Family history F - Italy white - - - - neuropathy moderate severity; axonal motor NCS; sensory NCS upper limbs normal, sensory NCS lower limbs reduced 1 1 Johan den Dunnen
00301234 Fam22Case27 PubMed: Cortese 2020 Family history M - Italy white - - - - neuropathy mild severity; axonal motor NCS; sensory NCS upper limbs normal, sensory NCS lower limbs normal 1 1 Johan den Dunnen
00301235 Fam23Case28II1 PubMed: Cortese 2020 Family, 2 affected M - Italy white - - - - neuropathy mild severity; axonal motor NCS; sensory NCS upper limbs normal, sensory NCS lower limbs normal; epilepsy, vascular encephalopathy, upper limb tremor, scoliosis. Has a normal sural nerve biopsy 1 2 Johan den Dunnen
00301236 Fam23Case29II2 PubMed: Cortese 2020 - F - Italy white - - - - neuropathy mild severity; axonal motor NCS; sensory NCS upper limbs reducedl, sensory NCS lower limbs reduced 1 1 Johan den Dunnen
00301237 Fam24Case30 PubMed: Cortese 2020 no Family history F - Italy white - - - - neuropathy moderate severity; axonal motor NCS; sensory NCS upper limbs normal, sensory NCS lower limbs normal; brisk reflexes 1 1 Johan den Dunnen
00301238 Fam25Case31 PubMed: Cortese 2020 no Family history M - Italy white - - - - neuropathy mild severity; axonal motor NCS; sensory NCS upper limbs normal, sensory NCS lower limbs normal 1 1 Johan den Dunnen
00301239 Fam26Case32 PubMed: Cortese 2020 no Family history M - Italy white - - - - neuropathy moderate severity; axonal motor NCS; sensory NCS upper limbs reducedl, sensory NCS lower limbs normal; split hand 1 1 Johan den Dunnen
00301240 Fam27Case33 PubMed: Cortese 2020 no Family history M - Italy white - - - - neuropathy moderate severity; axonal motor NCS; sensory NCS upper limbs normal, sensory NCS lower limbs normal; scoliosis, raised CK 1 1 Johan den Dunnen
00301241 Fam28Case34 PubMed: Cortese 2020 Family, 2 affected F - Italy white - - - - neuropathy mild severity; axonal motor NCS; sensory NCS upper limbs normal, sensory NCS lower limbs normal; brisk reflexes 1 2 Johan den Dunnen
00301242 Fam28Case35 PubMed: Cortese 2020 - F - Italy white - - - - neuropathy mild severity; axonal motor NCS; sensory NCS upper limbs normal, sensory NCS lower limbs normal; brisk reflexes 1 1 Johan den Dunnen
00301243 Fam29Case36 PubMed: Cortese 2020 no Family history M - Italy white - - - - neuropathy moderate severity; axonal motor NCS; sensory NCS upper limbs absent, sensory NCS lower limbs absent; scoliosis 2 1 Johan den Dunnen
00301244 Fam30Case37 PubMed: Cortese 2020 no Family history M - Italy white - - - - neuropathy mild severity; intermediate motor NCS; sensory NCS upper limbs reducedl, sensory NCS lower limbs absent 2 1 Johan den Dunnen
00301245 Fam31Case38 PubMed: Cortese 2020 no Family history M - Italy white - - - - neuropathy moderate severity; intermediate motor NCS; sensory NCS upper limbs reducedl, sensory NCS lower limbs absent; scoliosis 1 1 Johan den Dunnen
00301246 Fam32Case39 PubMed: Cortese 2020 no Family history M - Italy white - - - - neuropathy mild severity; axonal motor NCS; sensory NCS upper limbs normal, sensory NCS lower limbs normal; raised CK 2 1 Johan den Dunnen
00301247 Fam33Case40 PubMed: Cortese 2020 no Family history M - Italy white - - - - neuropathy moderate severity; axonal motor NCS; sensory NCS upper limbs normal, sensory NCS lower limbs reduced; mild hearing loss 2 1 Johan den Dunnen
00301248 Fam34Case41 PubMed: Cortese 2020 no Family history M - United States white - - - - neuropathy mild severity; intermediate motor NCS; sensory NCS upper limbs normal, sensory NCS lower limbs normal 1 1 Johan den Dunnen
00301249 Fam35Case42 PubMed: Cortese 2020 no Family history M - United States Native American (Alaska);white - - - - neuropathy mild severity; axonal motor NCS; sensory NCS upper limbs reducedl, sensory NCS lower limbs normal 1 1 Johan den Dunnen
00301250 Fam36Case43 PubMed: Cortese 2020 sporadic M - China Chinese, Han - - - - neuropathy mild severity; axonal motor NCS; sensory NCS upper limbs normal, sensory NCS lower limbs normal 1 1 Johan den Dunnen
00301251 Fam37Case44 PubMed: Cortese 2020 sporadic M - China Chinese, Han - - - - neuropathy mild severity; axonal motor NCS; sensory NCS upper limbs normal, sensory NCS lower limbs reduced 1 1 Johan den Dunnen
00301252 Fam38Case45 PubMed: Cortese 2020 sporadic M - China Chinese, Han - - - - neuropathy mild severity; axonal motor NCS; sensory NCS upper limbs normal, sensory NCS lower limbs reduced 1 1 Johan den Dunnen
00334673 - PubMed: Maranhao 2015 analysis 25 Pedigrees - - Pakistan - - - - - retinal disease - 1 5 LOVD
00334674 - PubMed: Maranhao 2015 analysis 25 Pedigrees - - Pakistan - - - - - retinal disease - 1 5 LOVD
00334675 - PubMed: Maranhao 2015 analysis 25 Pedigrees - - Pakistan - - - - - retinal disease - 1 8 LOVD
00404075 - - - M no Egypt - - - - - CMT 72-y old man with progressive weakness and wasting of both lower limbs, stocking and glove hypothesia, pes cavus. He developed diabetes at the age of 65. He had 8 sons and daughters with similar condition started in their adulthood in all except one son (12 y old) who developed frequent falling, mild lower limb weakness and stocking hypothesias at the age of 10. five sons has diabetes in their third decade. Nerve conduction velocity study of the proband and his siblings showed mixed demyelinating and axonal peripheral neuropathy which were done earlier at onset before the development of diabetes by many years. 1 9 Sherifa Ahmed Hamed
00404076 - - - F - Egypt - - - - - CMT2 20-y female with progressive weakness and wasting of both upper and lower limbs, stocking and glove hypesthesia, deep sensory loss, autonomic neuropathy and pes cavus. Her nerve conduction velocity study showed axonal neuropathy. She had a brother and two paternal uncles with similar condition. 1 4 Sherifa Ahmed Hamed
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