Phenotype #0000172603

Individual ID 00228665
Associated disease DPDD
Phenotype details see paper; ..., born with apparent cortical blindness, subsequently exhibited severe
developmental delay; 2y-severe spasticity, hyperreflexia felt secondary to intrauterine stroke; multiple brain MRIs delay in myelination; 18y-spastic paraparesis, mild intellectual disability
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite DPDD
Age/Examination 18y (18 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Enzyme/Activity -
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 2019-03-23 16:29:44 +01:00 (CET)
Date last edited N/A

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