Disease #05214 (ACC (corpus callosum, agenesis ACC), OMIM:217990)

Official abbreviation ACC
Name corpus callosum, agenesis ACC
OMIM ID 217990
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 23
Phenotype entries for this disease 23
Associated with 1 gene DCC
Associated tissues brain
Disease features -
Remarks -


Individuals

23 entries on 1 page. Showing entries 1 - 23.
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00095323 - Journal: Marsh 2017 - F - Algeria North African - 0 - - ACC MRI brain complete agenesis corpus callosum DCC DCC 1 1 Ashley Marsh
00095324 - Journal: Marsh 2017 - F - Algeria North African - 0 - - ACC MRI brain partial agenesis corpus callosum DCC DCC 1 1 Ashley Marsh
00095325 - Journal: Marsh 2017 - F - Algeria North African - 0 - - ACC MRI brain complete agenesis corpus callosum DCC DCC 1 1 Ashley Marsh
00095326 - Journal: Marsh 2017 - F yes Algeria North African - 0 - - ACC, MRMV-1 MRI brain partial agenesis corpus callosum DCC DCC 1 1 Ashley Marsh
00095331 - Journal: Marsh 2017 - F - Algeria North African - 0 - - ACC MRI brain complete agenesis corpus callosum DCC DCC 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) DCC DCC 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) DCC DCC 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) DCC DCC 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) DCC DCC 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 DCC DCC 1 1 Ashley Marsh
00095341 - Journal: Marsh 2017 - M - Algeria North African - 0 - - ACC, MRMV-1 MRI brain partial agenesis corpus callosum DCC DCC 1 1 Ashley Marsh
00095342 - Journal: Marsh 2017 - F - Algeria North African - 0 - - ACC MRI brain complete agenesis corpus callosum DCC DCC 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) DCC DCC 1 1 Ashley Marsh
00095350 - Journal: Marsh 2017 - F - ? (unknown) African - 0 - - ACC MRI brain complete agenesis corpus callosum DCC DCC 1 1 Ashley Marsh
00095352 - Journal: Marsh 2017 - M - France Caucasian - 0 - - ACC MRI brain complete agenesis corpus callosum DCC DCC 1 1 Ashley Marsh
00095354 - Journal: Marsh 2017 - F - France Caucasian/Asian - 0 - - ACC MRI brain complete agenesis corpus callosum DCC DCC 1 1 Ashley Marsh
00095355 - Journal: Marsh 2017 - M - France Caucasian/Asian - 0 - - ACC MRI brain complete agenesis corpus callosum DCC DCC 1 1 Ashley Marsh
00095356 - Journal: Marsh 2017 - F - Armenia;Belarus Caucasian - 0 - - ACC MRI brain complete agenesis corpus callosum DCC DCC 1 1 Ashley Marsh
00095358 - Journal: Marsh 2017 - F - United States Caucasian - 0 - - ACC MRI brain complete agenesis corpus callosum DCC DCC 2 1 Ashley Marsh
00095364 - PubMed: Meneret 2015 - M - France Caucasian - 0 - - ACC, MRMV-1 MRI brain partial agenesis corpus callosum DCC DCC 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 DCC DCC 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. DCC, TUBA1A DCC, TUBA1A 2 1 Ashley Marsh
00299927 - - - M no France - - 0 - - ACC Intellectual disability (ID), Borderline (HP:0006889) Hyperactivity (HP:0000752) Muscle stiffness (HP:0003552) - KIF21B 1 1 Juliette Godin
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