All individuals with variants in gene DCC

112 entries on 2 pages. Showing entries 1 - 100.
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00000208 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml) 2 1 Yu Sun
00000209 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml) 1 1 Yu Sun
00050538 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - 0 Decipher - ? microcephaly, muscular hypotonia, short philtrum, upslanted palpebral fissure 1 1 Johan den Dunnen
00095320 - Journal: Marsh 2017 - F - Algeria North African - 0 - - Healthy/Control Brain MRI performed 1 1 Ashley Marsh
00095321 - Journal: Marsh 2017 - F - Algeria North African - 0 - - Healthy/Control Brain CT performed 1 1 Ashley Marsh
00095322 - Journal: Marsh 2017 - M - Algeria North African - 0 - - ? N/A 1 1 Ashley Marsh
00095323 - Journal: Marsh 2017 - F - Algeria North African - 0 - - ACC MRI brain complete agenesis corpus callosum 1 1 Ashley Marsh
00095324 - Journal: Marsh 2017 - F - Algeria North African - 0 - - ACC MRI brain partial agenesis corpus callosum 1 1 Ashley Marsh
00095325 - Journal: Marsh 2017 - F - Algeria North African - 0 - - ACC MRI brain complete agenesis corpus callosum 1 1 Ashley Marsh
00095326 - Journal: Marsh 2017 - F yes Algeria North African - 0 - - ACC, MRMV-1 MRI brain partial agenesis corpus callosum 1 1 Ashley Marsh
00095327 - Journal: Marsh 2017 - M - Algeria North African - 0 - - Healthy/Control Brain MRI performed 1 1 Ashley Marsh
00095328 - Journal: Marsh 2017 - M yes Algeria North African - 0 - - ? N/A 1 1 Ashley Marsh
00095329 - Journal: Marsh 2017 - F yes Algeria North African - 0 - - ? N/A 1 1 Ashley Marsh
00095330 - Journal: Marsh 2017 - F yes Algeria North African - 0 - - Healthy/Control Brain MRI performed 1 1 Ashley Marsh
00095331 - Journal: Marsh 2017 - F - Algeria North African - 0 - - ACC MRI brain complete agenesis corpus callosum 1 1 Ashley Marsh
00095332 - Journal: Marsh 2017 - F - Australia Caucasian - 0 - - Healthy/Control Brain MRI performed 1 1 Ashley Marsh
00095333 - Journal: Marsh 2017 - F - Australia Caucasian - 0 - - ? N/A 1 1 Ashley Marsh
00095334 - Journal: Marsh 2017 - F - Australia Caucasian - 0 - - ACC, MRMV-1 severity score Woods & Teuber 2; mirror movement functional effect = taps/cooking/dishes/drawing; MRI brain complete agenesis corpus callosum; DTI tractography (Brain+medullary pyramids, reduced crossing of descending CST projections); fingers/hands/wrists. Right handed. Mirror movement asymmetry (L>R) 1 1 Ashley Marsh
00095335 - Journal: Marsh 2017 - M - Australia Caucasian - 0 - - ACC, MRMV-1 severity score Woods & Teuber 2; no functional effect motor skills; MRI brain complete agenesis corpus callosum; DTI tractography (Brain+medullary pyramids, reduced crossing of descending CST projections); fingers/hands/wrists. Right handed. No mirror movement asymmetry (L=R) 1 1 Ashley Marsh
00095336 - Journal: Marsh 2017 - M - Australia Caucasian - 0 - - ACC, MRMV-1 severity score Woods & Teuber 2; no functional effect motor skills; MRI brain complete agenesis corpus callosum; DTI tractography (Brain+medullary pyramids, reduced crossing of descending CST projections); fingers/hands/wrists. Right handed. No mirror movement asymmetry (L=R) 1 1 Ashley Marsh
00095337 - Journal: Marsh 2017 - M - Australia Caucasian - 0 - - ACC, MRMV-1 severity score Woods & Teuber 3; mirror movement functional effect = writng/drawing/dishes; MRI brain complete agenesis corpus callosum; DTI tractography (Brain+medullary pyramids, reduced crossing of descending CST projections); fingers/hands/wrists. Right handed. No mirror movement asymmetry (L=R) 1 1 Ashley Marsh
00095338 - Journal: Marsh 2017 - M - Algeria North African - 0 - - MRMV-1 no additional phenotype 1 1 Ashley Marsh
00095339 - Journal: Marsh 2017 - M - Algeria North African - 0 - - MRMV-1 no additional phenotype 1 1 Ashley Marsh
00095340 - Journal: Marsh 2017 - F - Algeria North African - 0 - - ACC, MRMV-1 severity score Woods & Teuber 2 (hands and forearms); difficulties in fine bimanual activities. General clumsiness; MRI brain partial agenesis corpus callosum 1 1 Ashley Marsh
00095341 - Journal: Marsh 2017 - M - Algeria North African - 0 - - ACC, MRMV-1 MRI brain partial agenesis corpus callosum 1 1 Ashley Marsh
00095342 - Journal: Marsh 2017 - F - Algeria North African - 0 - - ACC MRI brain complete agenesis corpus callosum 1 1 Ashley Marsh
00095343 - Journal: Marsh 2017 - F - Algeria North African - 0 - - MRMV-1 no additional phenotype 1 1 Ashley Marsh
00095344 - Journal: Marsh 2017 - F - Algeria North African - 0 - - Healthy/Control Brain MRI performed 1 1 Ashley Marsh
00095345 - Journal: Marsh 2017 - F - Australia Caucasian - 0 - - ? N/A 1 1 Ashley Marsh
00095346 - Journal: Marsh 2017 - F - Australia Caucasian - 0 - - MRMV-1 Fingers/hands/wrists/toes/legs. Mirror movement asymmetry (L>R). Right handed 1 1 Ashley Marsh
00095347 - Journal: Marsh 2017 - M - Australia Caucasian - 0 - - ACC, MRMV-1 severity score Woods & Teuber 2; no functional effect motor skills; MRI brain partial agenesis corpus callosum; DTI tractography (Brain+medullary pyramids, reduced crossing of descending CST projections); fingers/hands/wrists. Right handed. No mirror movement asymmetry (L=R) 1 1 Ashley Marsh
00095348 - Journal: Marsh 2017 - F - Australia Caucasian - 0 - - MRMV-1 Fingers/hands/wrists. L>R mirror movement asymmetry. Ambidextrous 1 1 Ashley Marsh
00095349 - Journal: Marsh 2017 - M - ? (unknown) African - 0 - - ? N/A 1 1 Ashley Marsh
00095350 - Journal: Marsh 2017 - F - ? (unknown) African - 0 - - ACC MRI brain complete agenesis corpus callosum 1 1 Ashley Marsh
00095351 - Journal: Marsh 2017 - M - France Caucasian - 0 - - ? N/A 1 1 Ashley Marsh
00095352 - Journal: Marsh 2017 - M - France Caucasian - 0 - - ACC MRI brain complete agenesis corpus callosum 1 1 Ashley Marsh
00095353 - Journal: Marsh 2017 - M - France Caucasian/Asian - 0 - - ? N/A 1 1 Ashley Marsh
00095354 - Journal: Marsh 2017 - F - France Caucasian/Asian - 0 - - ACC MRI brain complete agenesis corpus callosum 1 1 Ashley Marsh
00095355 - Journal: Marsh 2017 - M - France Caucasian/Asian - 0 - - ACC MRI brain complete agenesis corpus callosum 1 1 Ashley Marsh
00095356 - Journal: Marsh 2017 - F - Armenia;Belarus Caucasian - 0 - - ACC MRI brain complete agenesis corpus callosum 1 1 Ashley Marsh
00095357 - Journal: Marsh 2017 - F - United States Caucasian - 0 - - Healthy/Control Brain MRI performed 2 1 Ashley Marsh
00095358 - Journal: Marsh 2017 - F - United States Caucasian - 0 - - ACC MRI brain complete agenesis corpus callosum 2 1 Ashley Marsh
00095359 - PubMed: Meneret 2014 - M - Germany Caucasian - 0 - - ?, MRMV-1 - 1 1 Ashley Marsh
00095360 - PubMed: Meneret 2014 - M - Germany Caucasian - 0 - - ?, MRMV-1 - 1 1 Ashley Marsh
00095361 - PubMed: Meneret 2014 - M - ? (unknown) African - 0 - - ?, MRMV-1 - 1 1 Ashley Marsh
00095362 - PubMed: Meneret 2014 - F - France Caucasian - 0 - - MRMV-1 no additional phenotype 1 1 Ashley Marsh
00095363 - PubMed: Meneret 2014 - F - France Caucasian - 0 - - MRMV-1 - 1 1 Ashley Marsh
00095364 - PubMed: Meneret 2015 - M - France Caucasian - 0 - - ACC, MRMV-1 MRI brain partial agenesis corpus callosum 1 1 Ashley Marsh
00095365 - Journal: Marsh 2017 - F - France Caucasian - 0 - - ? Brain MRI performed (normal), has not been clinically assessed for congenital mirror movements 1 1 Ashley Marsh
00095366 - Journal: Marsh 2017 - M - France Caucasian - 0 - - ? No brain MRI performed, has not been clinically assessed for congenital mirror movements 1 1 Ashley Marsh
00095370 - PubMed: Meneret 2014 - F - Italy Caucasian - 0 - - ?, MRMV-1 - 2 1 Ashley Marsh
00095371 - PubMed: Meneret 2014 - M yes Turkey Caucasian - 0 - - ?, MRMV-1 - 1 1 Ashley Marsh
00095372 - PubMed: Meneret 2014 - F - United States Caucasian - 0 - - ?, MRMV-1 Parkinson's disease 1 1 Ashley Marsh
00095373 - PubMed: Srour 2010 - M - Iran Persian - 0 - - ? N/A 1 1 Ashley Marsh
00095374 - PubMed: Srour 2010 - M - Iran Persian - 0 - - MRMV-1 CMM confirmed by electromyography 1 1 Ashley Marsh
00095375 - PubMed: Srour 2010 - M - Iran Persian - 0 - - MRMV-1 CMM confirmed by electromyography 1 1 Ashley Marsh
00095376 - PubMed: Srour 2010 - M - Iran Persian - 0 - - ? N/A 1 1 Ashley Marsh
00095377 - PubMed: Srour 2010 - M - Iran Persian - 0 - - ?, MRMV-1 CMM confirmed by electromyography 1 1 Ashley Marsh
00095378 - PubMed: Srour 2010 - M - Iran Persian - 0 - - Healthy/Control Brain MRI performed 1 1 Ashley Marsh
00095379 - PubMed: Srour 2010 - M - Iran Persian - 0 - - MRMV-1 CMM confirmed by electromyography 1 1 Ashley Marsh
00095380 - PubMed: Srour 2009 - M - Canada Caucasian - 0 - - ? N/A 1 1 Ashley Marsh
00095381 - PubMed: Srour 2009 - F - Canada Caucasian - 0 - - ? N/A 1 1 Ashley Marsh
00095382 - PubMed: Srour 2009 - F - Canada Caucasian - 0 - - ? N/A 1 1 Ashley Marsh
00095383 - PubMed: Srour 2009 - F - Canada Caucasian - 0 - - ? N/A 1 1 Ashley Marsh
00095384 - PubMed: Srour 2009 - M - Canada Caucasian - 0 - - MRMV-1 Diadochokinesimeter - CMM affected showed amplitudes + velocities ranging from 4-26% of voluntary hand at normal pace 1 1 Ashley Marsh
00095385 - PubMed: Srour 2009 - F - Canada Caucasian - 0 - - ? N/A 1 1 Ashley Marsh
00095386 - PubMed: Srour 2009 - M - Canada Caucasian - 0 - - ?, MRMV-1 N/A 1 1 Ashley Marsh
00095387 - PubMed: Srour 2009 - M - Canada Caucasian - 0 - - ?, MRMV-1 Diadochokinesimeter - CMM affected showed amplitudes + velocities ranging from 4-26% of voluntary hand at normal pace 1 1 Ashley Marsh
00095388 - PubMed: Srour 2009 - M - Canada Caucasian - 0 - - ?, MRMV-1 Diadochokinesimeter - CMM affected showed amplitudes + velocities ranging from 4-26% of voluntary hand at normal pace 1 1 Ashley Marsh
00095389 - PubMed: Srour 2009 - M - Canada Caucasian - 0 - - ?, MRMV-1 Diadochokinesimeter - CMM affected showed amplitudes + velocities ranging from 4-26% of voluntary hand at normal pace 1 1 Ashley Marsh
00095390 - PubMed: Srour 2009 - M - Canada Caucasian - 0 - - ?, MRMV-1 Transcranial magnetic studies - contralateral + ipsilateral motor evoked potentials from unilateral transcortical stimulation of motor area. Diadochokinesimeter - CMM affected showed amplitudes + velocities ranging from 4-26% of voluntary hand at normal pace 1 1 Ashley Marsh
00095391 - PubMed: Srour 2009 - F - Canada Caucasian - 0 - - ?, MRMV-1 Transcranial magnetic studies - contralateral + ipsilateral motor evoked potentials from unilateral transcortical stimulation of motor area. Diadochokinesimeter - CMM affected showed amplitudes + velocities ranging from 4-26% of voluntary hand at normal pace 1 1 Ashley Marsh
00095392 - PubMed: Srour 2009 - M - Canada Caucasian - 0 - - ? N/A 1 1 Ashley Marsh
00095393 - PubMed: Srour 2009 - M - Canada Caucasian - 0 - - ?, MRMV-1 Diadochokinesimeter - CMM affected showed amplitudes + velocities ranging from 4-26% of voluntary hand at normal pace 1 1 Ashley Marsh
00095394 - PubMed: Srour 2009 - F - Canada Caucasian - 0 - - ?, MRMV-1 Diadochokinesimeter - CMM affected showed amplitudes + velocities ranging from 4-26% of voluntary hand at normal pace 1 1 Ashley Marsh
00095395 - PubMed: Srour 2009 - M - Canada Caucasian - 0 - - ?, MRMV-1 Transcranial magnetic studies - contralateral + ipsilateral motor evoked potentials from unilateral transcortical stimulation of motor area. Diadochokinesimeter - CMM affected showed amplitudes + velocities ranging from 4-26% of voluntary hand at normal pace 1 1 Ashley Marsh
00095396 - PubMed: Srour 2009 - M - Canada Caucasian - 0 - - ?, MRMV-1 Diadochokinesimeter - CMM affected showed amplitudes + velocities ranging from 4-26% of voluntary hand at normal pace 1 1 Ashley Marsh
00095397 - PubMed: Srour 2009 - M - Canada Caucasian - 0 - - ?, MRMV-1 Diadochokinesimeter - CMM affected showed amplitudes + velocities ranging from 4-26% of voluntary hand at normal pace 1 1 Ashley Marsh
00095398 - PubMed: Borgheresi 2010 PubMed: Welniarz 2017 - F - Italy Caucasian - 0 - - ?, MRMV-1 Parkinson's disease. Frequency of ipsilateral MEPs = 100%. Relative amplitude (MEPipsi/MEPcontra) = 409%. Latency of contralateral MEPs (ms) = 22,5. Latency of ipsilateral MEPs (ms) = 22,1. 1 1 Ashley Marsh
00095399 - PubMed: Meneret 2014 - M - France Caucasian - 0 - - ?, MRMV-1 - 1 1 Ashley Marsh
00095400 - PubMed: Meneret 2014 - F - France Caucasian - 0 - - ? N/A 1 1 Ashley Marsh
00095401 - PubMed: Franz 2015 - F - Australia Caucasian - 0 - - ?, MRMV-1 DexterO (Franz Lab, University of Otago) accelerometer gloves - micro-movements 1 1 Ashley Marsh
00095402 - PubMed: Franz 2015 - M - Australia Caucasian - 0 - - ?, MRMV-1 Fractionated mirroring (fragmented, saccadic movements) 1 1 Ashley Marsh
00095403 - PubMed: Franz 2015 - M - Australia Caucasian - 0 - - ?, MRMV-1 DexterO (Franz Lab, University of Otago) accelerometer gloves - micro-movements 1 1 Ashley Marsh
00095404 - PubMed: Franz 2015 - M - Australia Caucasian - 0 - - ?, MRMV-1 Fractionated mirroring (fragmented, saccadic movements) 1 1 Ashley Marsh
00095405 - PubMed: Meneret 2014 - F - Germany Caucasian - 0 - - ?, MRMV-1 - 1 1 Ashley Marsh
00095406 - PubMed: Meneret 2014 - F - Germany Caucasian - 0 - - ?, MRMV-1 - 1 1 Ashley Marsh
00095407 - PubMed: Meneret 2014 - F - Germany Caucasian - 0 - - ?, MRMV-1 - 1 1 Ashley Marsh
00095408 - PubMed: Depienne 2011 - F - Italy Caucasian - 0 - - ?, MRMV-1 Depression 1 1 Ashley Marsh
00095409 - PubMed: Depienne 2011 PubMed: Welniarz 2017 - F - Italy Caucasian - 0 - - MRMV-1 Voluntary EMG - abnormal bilateral EMG activity during unilateral contraction of APB muscle. Focal TMS - abnormal bilateral motor evoked potentials in the thenar muscle following unilateral stimulation of the motor cortex. Shorter cortical silent period following unilateral M1 stimulation; lengthening of cortical silent period following bilateral M1 stimulation. During intended unilateral contraction, dissocciation of task-related short-interval intracortical inhibition modulation between task and mirror APB. F waves - normal ipsilateral F waves evoked from unilateral median nerve stimulation. SEP - normal, lateralized latencies of the N20 and P25 parietal components of the median nerve somatosensory evoked potentials. LLR - normal ipsilateral V1 but abnormal bilateral V2 long-latency EMG responses recorded in both thenar muscles. Frequency of ipsilateral MEPs = 100%. Relative amplitude (MEPipsi/MEPcontra) = 47%. Latency of contralateral MEPs (ms) = 21,9. Latency of ipsilateral MEPs (ms) = 22,5. 1 1 Ashley Marsh
00095410 - PubMed: Depienne 2011 PubMed: Welniarz 2017 - M - Italy Caucasian - 0 - - ?, MRMV-1 Frequency of ipsilateral MEPs = 100%. Relative amplitude (MEPipsi/MEPcontra) = 322%. Latency of contralateral MEPs (ms) = 23,0. Latency of ipsilateral MEPs (ms) = 22,7. 1 1 Ashley Marsh
00095411 - PubMed: Depienne 2011 - M - Italy Caucasian - 0 - - ?, MRMV-1 Fallot tetralogy. CMM improvement with aging 1 1 Ashley Marsh
00101207 - PubMed: Griebel 1995 - M - ? (unknown) Caucasian - 0 - - ?, ACC CT brain complete agenesis corpus callosum, growth hormone deficiency, seizures, short stature, global developmental delay, right hemiparesis, hydrocephalus requiring shunt 1 1 Ashley Marsh
00101208 - PubMed: Jamuar et al 2017 mother of 00101209 and 00101210 F - Mexico Hispanic - 0 - - Healthy/Control Brain CT performed 1 3 Ashley Marsh
00101209 - PubMed: Jamuar et al 2017 offspring of 00101208 M yes Mexico Hispanic - 0 - - HGPPS2, MRMV-1 Agenesis of the corpus callosum. Absence of anterior and hippocampal commissures. Hypoplastic pons and midbrain. Midline cleft of the brainstem. Horizontal gaze palsy, intellectual disability, progressive scoliosis, global developmental delay, hypotonia, short stature. Mirror movements. 1 1 Ashley Marsh
00101210 - PubMed: Jamuar 2017 offspring of 00101208 M yes Mexico Hispanic - 0 - - HGPPS2, MRMV-1 Agenesis of the corpus callosum. Absence of anterior and hippocampal commissures. Hypoplastic pons and midbrain. Midline cleft of the brainstem. Horizontal gaze palsy, intellectual disability, progressive scoliosis, global developmental delay, hypotonia. Mirror movements. 1 1 Ashley Marsh
00101372 - PubMed: Jamuar et al 2017 father of 00101374 M - Saudi Arabia Arabic - 0 - - Healthy/Control - 1 3 Ashley Marsh
00101373 - PubMed: Jamuar et al 2017 mother of 00101374 F - Saudi Arabia Arabic - 0 - - Healthy/Control - 1 1 Ashley Marsh
00101374 - PubMed: Jamuar 2017 offspring of 00101372 and 00101373 F yes Saudi Arabia Arabic - 0 - - HGPPS2 Agenesis of the corpus callosum. Absence of anterior and hippocampal commissures. Hypoplastic pons and midbrain. Midline cleft of the brainstem. Global motor delay, horizontal gaze palsy, intellectual disability, scoliosis. 1 1 Ashley Marsh
00108613 - PubMed: Jamuar 2017 - F no United States Caucasian - 0 - - ACC MRI brain complete agenesis corpus callosum with a small pons and small inferior aspect of the midbrain. Severe cognitive impairments and global developmental delay with significant emotional/behavioral problems, including anxiety. The affected individual also has strabismus, cortical visual impairment and a history of febrile seizures. 1 1 Ashley Marsh
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