Global Variome shared LOVD

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Phenotype #0000283617 Individual ID 00390079 Associated disease MRMV Phenotype details 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 Diagnosis/Initial congenital mirror movement Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 3y (3 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2021-11-09 17:45:02 +01:00 (CET) Date last edited N/A

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