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 InternationalCreative Commons License
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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