Phenotypes for disease #05214 (ACC (corpus callosum, agenesis ACC), OMIM:217990)

23 entries on 1 page. Showing entries 1 - 23.
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AscendingPhenotype ID     

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Inheritance     

Phenotype details     

Diagnosis/Definite     

Age/Diagnosis     

Age/Examination     

Age/Onset     

Phenotype/Onset     

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Individual ID     
0000073723 - Familial, autosomal dominant MRI brain complete agenesis corpus callosum - - - - - - Ashley Marsh 00095323
0000073724 - Familial, autosomal dominant MRI brain partial agenesis corpus callosum - - - - - - Ashley Marsh 00095324
0000073725 - Familial, autosomal dominant MRI brain complete agenesis corpus callosum - - - - - - Ashley Marsh 00095325
0000073726 - Familial, autosomal dominant MRI brain partial agenesis corpus callosum - - - - - - Ashley Marsh 00095326
0000073731 - Familial, autosomal dominant MRI brain complete agenesis corpus callosum - - - - - - Ashley Marsh 00095331
0000073734 - Familial, autosomal dominant 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) - - - - - - Ashley Marsh 00095334
0000073735 - Familial, autosomal dominant 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) - - - - - - Ashley Marsh 00095335
0000073736 - Familial, autosomal dominant 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) - - - - - - Ashley Marsh 00095336
0000073737 - Familial, autosomal dominant 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) - - - - - - Ashley Marsh 00095337
0000073740 - Familial, autosomal dominant severity score Woods & Teuber 2 (hands and forearms); difficulties in fine bimanual activities. General clumsiness; MRI brain partial agenesis corpus callosum - - - - - - Ashley Marsh 00095340
0000073741 - Familial, autosomal dominant MRI brain partial agenesis corpus callosum - - - - - - Ashley Marsh 00095341
0000073742 - Familial, autosomal dominant MRI brain complete agenesis corpus callosum - - - - - - Ashley Marsh 00095342
0000073747 - Familial, autosomal dominant 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) - - - - - - Ashley Marsh 00095347
0000073750 - Familial, autosomal dominant MRI brain complete agenesis corpus callosum - - - - - - Ashley Marsh 00095350
0000073752 - Familial, autosomal dominant MRI brain complete agenesis corpus callosum - - - - - - Ashley Marsh 00095352
0000073754 - Familial, autosomal dominant MRI brain complete agenesis corpus callosum - - - - - - Ashley Marsh 00095354
0000073755 - Familial, autosomal dominant MRI brain complete agenesis corpus callosum - - - - - - Ashley Marsh 00095355
0000073756 - Unknown MRI brain complete agenesis corpus callosum - - - - - - Ashley Marsh 00095356
0000073758 - Familial, autosomal dominant MRI brain complete agenesis corpus callosum - - - - - - Ashley Marsh 00095358
0000073764 - Familial, autosomal dominant MRI brain partial agenesis corpus callosum - - - - - - Ashley Marsh 00095364
0000079450 - Unknown CT brain complete agenesis corpus callosum, growth hormone deficiency, seizures, short stature, global developmental delay, right hemiparesis, hydrocephalus requiring shunt - - - - - - Ashley Marsh 00101207
0000086090 - Familial, autosomal dominant 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. - - - - - - Ashley Marsh 00108613
0000227248 - Isolated (sporadic) Intellectual disability (ID), Borderline (HP:0006889) Hyperactivity (HP:0000752) Muscle stiffness (HP:0003552) - - - - - - Juliette Godin 00299927
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