Phenotype #0000125531

Individual ID 00152569
Associated disease MDC
Phenotype details birth ocular abnormalities, muscular hypotonia; 10m-pileptic seizures; 6y-moderate mental retardation; walked unassisted, buphthalmus, corioretinal atrophy (R-eye), bilateral congenital myopia, frontocortical cortical dysplasia, white matter T2-weighted hyperintensity, hypoplastic pons, cerebellar cortical dysplasia, cerebellar cysts, raised CK 1500 U/l
Diagnosis/Initial -
Diagnosis/Definite -
Inheritance Familial, autosomal recessive
Age/Examination 07y (7 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 2018-02-03 17:04:51 +01:00 (CET)
Date last edited N/A

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