Phenotype #0000209284

Individual ID 00274341
Associated disease ?
Diagnosis/Initial intellectual disability
Diagnosis/Definite MRT57
Phenotype details head control-2y6m, sit-3y6m; no speech; onset seizures-2y6m, generalized tonic-clonic seizures; child autism rating scale 44; head circumference -3SD; hypotonia infancy; hypertonia; intellectual disability; MRI brain polymicrogyria, cortical atrophy
Inheritance Familial, autosomal recessive
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Tumor/MSI -
Diagnosis/Criteria -
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 2019-12-29 15:57:46 +01:00 (CET)
Date last edited N/A

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