Disease #04304 (MRMV (mirror movements (MRMV)))

Official abbreviation MRMV
Name mirror movements (MRMV)
OMIM ID -
Inheritance -
Individuals reported having this disease 24
Phenotype entries for this disease 23
Associated with 1 gene RAD51
Associated tissues -
Disease features -
Remarks -
Date created 2015-07-19 11:49:15 +02:00 (CEST)
Date last edited N/A


Individuals

24 entries on 1 page. Showing entries 1 - 24.
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00390071 Fam1Pat1 PubMed: Nissenkorn 2021 family, affected father/daughter F - Israel - - - - - MRMV MRI brain partial agenesis corpus callosum; dysplastic corpus callosum, asymmetric ventriculomegaly; mild gross motor delay, mild fine motor delay; regular education; OFC -1.5 SD; no epilepsy; no cerebellar signs; no dystonia - DCC 1 2 Johan den Dunnen
00390072 Fam1Pat2 PubMed: Nissenkorn 2021 father M - Israel - - - - - MRMV MRI brain partial agenesis corpus callosum; no developmental delay; college graduate; OFC -0.5 SD; no epilepsy; no cerebellar signs; no dystonia - DCC 1 1 Johan den Dunnen
00390073 Fam1Pat3 PubMed: Nissenkorn 2021 family, affected son/mother; son M - Israel - - - - - MRMV MRI brain hypoplastic corpus callosum, disorganization of vermis and cerebellar hemispheres, asymmetric; mild speech delay; regular education; OFC -2 SD; no epilepsy; no cerebellar signs; - TUBB3 1 2 Johan den Dunnen
00390074 Fam2Pat4 PubMed: Nissenkorn 2021 mother F - Israel - - - - - MRMV MRI brain ventriculomegaly; ventriculomegaly, disorganized vermian and cerebellar hemisphere foliation, asymmetric brain stem; mild motor delay; college student; OFC -2 SD; no epilepsy; mild gait ataxia on tandem; - TUBB3 1 1 Johan den Dunnen
00390075 Fam2Pat5 PubMed: Nissenkorn 2021 family, affected father/2 daughters F - Israel - - - - - MRMV dysplastic corpus callosum, asymmetric ventriculomegaly; mild gross motor delay; regular education; OFC -1 SD; no epilepsy; no cerebellar signs; no dystonia - TUBB 1 3 Johan den Dunnen
00390076 Fam3Pat6 PubMed: Nissenkorn 2021 father M - Israel - - - - - MRMV ventriculomegaly, disorganized vermian and cerebellar hemisphere foliation, asymmetric brain stem; no developmental delay; college graduate; epilepsy; mild gait ataxia on tandem, horizontal nystagmus; no dystonia - TUBB 1 1 Johan den Dunnen
00390077 Fam3Pat7 PubMed: Nissenkorn 2021 sister F - Israel - - - - - MRMV hypoplastic corpus callosum, asymmetric ventriculomegaly, dysgyria and polymicrogyria, dysmorphic basal ganglia, hypoplastic disorganized vermis, hypoplastic asymmetric brain stem; no developmental delay; regular school; OFC -2 SD; no epilepsy; mild terminal kinetic tremor bilaterally; no dystonia - TUBB 1 1 Johan den Dunnen
00390078 Fam4Pat8 PubMed: Nissenkorn 2021 - M - Israel - - - - - MRMV moderate global delay; special education; OFC -0.5 SD; no epilepsy; gait ataxia, severe dyspraxia; dystonia lower limb - TUBA1A 1 1 Johan den Dunnen
00390079 Fam5Pat9 PubMed: Nissenkorn 2021 - F - Israel - - - - - MRMV MRI brain hypoplastic corpus callosum, disorganization vermis and cerebellar hemispheres, asymmetric ventriculomegaly; hypoplastic corpus callosum, polymicrogyria, white matter abnormality, asymmetric ventriculomegaly, cerebellar cysts, hypoplastic pons; moderate global delay; special education; OFC -0.5 SD; no epilepsy; gait ataxia; no dystonia - POMGNT1 1 1 Johan den Dunnen
00430899 827 - F no France white - - - - MRMV, MRMV2 - RAD51 RAD51 1 1 Oriane Trouillard
00431128 FamA PubMed: Depienne 2012 5-generation family, 9 affected (3F, 6M) F;M - France - - - - - MRMV see paper RAD51 BAHD1, CAPN3, PLA2G4D, PLA2G4F, RAD51, RMDN3, VPS39 8 9 Johan den Dunnen
00431129 FamB PubMed: Depienne 2012 2-generation family, 2 affected (mother/son) F;M - Germany - - - - - MRMV see paper RAD51 RAD51 1 1 Johan den Dunnen
00431131 FamA PubMed: Franz 2015 4-generation family, 11 affected (5F, 6M), 1 asymptomatic carrier F;M - United States - - - - - MRMV see paper RAD51 RAD51 1 11 Johan den Dunnen
00431132 Fam3 PubMed: Meneret 2014 2-generation family, 1 affected, unaffected carriers mother/brother F - Italy - - - - - MRMV see paper RAD51 RAD51 1 1 Johan den Dunnen
00431133 Fam16 PubMed: Meneret 2014 2-generation family, affected female, unaffected heterozygous carrier mother F - France - - - - - MRMV see paper RAD51 RAD51 1 1 Johan den Dunnen
00431134 Fam4 PubMed: Meneret 2014 2-generation family, affected son, unaffected heterozygous carrier father M - - - - - - - MRMV see paper RAD51 RAD51 1 1 Johan den Dunnen
00431135 FamPat1 PubMed: Trouillard 2016 4-generation family, 8 affected (4F, 4M), 4 mild M - Norway - - - - - MRMV Woods and Teuber MM severity scale 3 upper limbs; no assymetry; difficulties fine bimanual activities RAD51 RAD51 1 8 Johan den Dunnen
00431136 FamPat2 PubMed: Trouillard 2016 daughter Pat8 F - Norway - - - - - MRMV Woods and Teuber MM severity scale 3 upper limbs; no assymetry; difficulties fine bimanual activities RAD51 RAD51 1 1 Johan den Dunnen
00431137 FamPat3 PubMed: Trouillard 2016 daughter Pat7 F - Norway - - - - - MRMV Woods and Teuber MM severity scale 3 upper limbs, 1 lower limbs; no assymetry; difficulties fine bimanual activities RAD51 RAD51 1 1 Johan den Dunnen
00431138 FamPat4 PubMed: Trouillard 2016 son F - Norway - - - - - MRMV Woods and Teuber MM severity scale 3 upper limbs, 1 lower limbs; no assymetry; difficulties fine bimanual activities RAD51 RAD51 1 1 Johan den Dunnen
00431139 FamPat5 PubMed: Trouillard 2016 sister F - Norway - - - - - MRMV Woods and Teuber MM severity scale 1 upper limbs; assymetry R>L; chronic fatigue; no functional disability RAD51 RAD51 1 1 Johan den Dunnen
00431140 FamPat6 PubMed: Trouillard 2016 nephew M - Norway - - - - - MRMV Woods and Teuber MM severity scale 1 upper limbs; assymetry R>L; no functional disability RAD51 RAD51 1 1 Johan den Dunnen
00431141 FamPat7 PubMed: Trouillard 2016 nephew M - Norway - - - - - MRMV Woods and Teuber MM severity scale 1 upper limbs; assymetry L>R; chromic upper limb pain RAD51 RAD51 1 1 Johan den Dunnen
00431142 FamPat8 PubMed: Trouillard 2016 nephew M - Norway - - - - - MRMV Woods and Teuber MM severity scale 1 upper limbs; assymetry R>L; no functional disability RAD51 RAD51 1 1 Johan den Dunnen
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