Phenotypes for disease #04304 (MRMV (mirror movements (MRMV)))

23 entries on 1 page. Showing entries 1 - 23.
Legend   How to query  

AscendingPhenotype ID     
Phenotype details     
Diagnosis/Initial     
Diagnosis/Definite     
Inheritance     
Age/Examination     
Age/Diagnosis     
Age/Onset     
Phenotype/Onset     
Protein     
Owner     
Individual ID     
0000283609 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 congenital mirror movement - Familial, autosomal dominant 2y - - - - Johan den Dunnen 00390071
0000283610 MRI brain partial agenesis corpus callosum; no developmental delay; college graduate; OFC -0.5 SD; no epilepsy; no cerebellar signs; no dystonia congenital mirror movement - Familial, autosomal dominant 34y - - - - Johan den Dunnen 00390072
0000283611 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; congenital mirror movement - Familial, autosomal dominant 4y - - - - Johan den Dunnen 00390073
0000283612 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; congenital mirror movement - Familial, autosomal dominant 36y - - - - Johan den Dunnen 00390074
0000283613 dysplastic corpus callosum, asymmetric ventriculomegaly; mild gross motor delay; regular education; OFC -1 SD; no epilepsy; no cerebellar signs; no dystonia congenital mirror movement - Familial, autosomal dominant 9m - - - - Johan den Dunnen 00390075
0000283614 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 congenital mirror movement - Familial, autosomal dominant 37y - - - - Johan den Dunnen 00390076
0000283615 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 congenital mirror movement - Familial, autosomal dominant 10y - - - - Johan den Dunnen 00390077
0000283616 moderate global delay; special education; OFC -0.5 SD; no epilepsy; gait ataxia, severe dyspraxia; dystonia lower limb congenital mirror movement - Isolated (sporadic) 8y6m - - - - Johan den Dunnen 00390078
0000283617 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 congenital mirror movement - Familial, autosomal recessive 3y - - - - Johan den Dunnen 00390079
0000321737 see paper congenital mirror movements MRMV2 Familial, autosomal dominant - - - - - Johan den Dunnen 00431128
0000321738 see paper congenital mirror movements MRMV2 Familial, autosomal dominant - - - - - Johan den Dunnen 00431129
0000321740 see paper congenital mirror movements MRMV2 Familial, autosomal dominant - - - - - Johan den Dunnen 00431131
0000321741 see paper congenital mirror movements MRMV1 Familial, autosomal dominant - - - - - Johan den Dunnen 00431132
0000321742 see paper congenital mirror movements MRMV2 Familial, autosomal dominant - - - - - Johan den Dunnen 00431133
0000321743 see paper congenital mirror movements - Unknown - - - - - Johan den Dunnen 00431134
0000321744 Woods and Teuber MM severity scale 3 upper limbs; no assymetry; difficulties fine bimanual activities congenital mirror movements MRMV2 Familial, autosomal dominant 59y - - - - Johan den Dunnen 00431135
0000321745 Woods and Teuber MM severity scale 3 upper limbs; no assymetry; difficulties fine bimanual activities congenital mirror movements MRMV2 Familial, autosomal dominant 5y - - - - Johan den Dunnen 00431136
0000321746 Woods and Teuber MM severity scale 3 upper limbs, 1 lower limbs; no assymetry; difficulties fine bimanual activities congenital mirror movements MRMV2 Familial, autosomal dominant 3y - - - - Johan den Dunnen 00431137
0000321747 Woods and Teuber MM severity scale 3 upper limbs, 1 lower limbs; no assymetry; difficulties fine bimanual activities congenital mirror movements MRMV2 Familial, autosomal dominant 22y - - - - Johan den Dunnen 00431138
0000321748 Woods and Teuber MM severity scale 1 upper limbs; assymetry R>L; chronic fatigue; no functional disability congenital mirror movements MRMV2 Familial, autosomal dominant 70y - - - - Johan den Dunnen 00431139
0000321749 Woods and Teuber MM severity scale 1 upper limbs; assymetry R>L; no functional disability congenital mirror movements MRMV2 Familial, autosomal dominant 45y - - - - Johan den Dunnen 00431140
0000321750 Woods and Teuber MM severity scale 1 upper limbs; assymetry L>R; chromic upper limb pain congenital mirror movements MRMV2 Familial, autosomal dominant 44y - - - - Johan den Dunnen 00431141
0000321751 Woods and Teuber MM severity scale 1 upper limbs; assymetry R>L; no functional disability congenital mirror movements MRMV2 Familial, autosomal dominant 43y - - - - Johan den Dunnen 00431142
Legend   How to query  

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.