Phenotype #0000155268

Individual ID 00207491
Associated disease HPMRS3;GPIBD8
Phenotype details Developmental delay, Moderate mental retardation, Behavioral problems- aggression, Past history of seizures without fever, Elevated alkaline phosphatase (673 IU/L), generalized interictal spike and slow epileptiform discharges in EEG. No organ anomaly, No signs of dysmorphism, Normal cranial, motor, sensory, gait, and cerebellar exam, normal brain MRI
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite HPMRS3
Age/Examination 17y (17 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Philippe Campeau
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Philippe Campeau
Date created 2018-11-23 16:24:58 +01:00 (CET)
Date last edited N/A

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