Phenotype #0000050908

Individual ID 00064750
Associated disease DD
Phenotype details see paper; ..., global developmental delay (HP:0001263), seizures (HP:0001250), limb hypertonia (HP:0002509), failure to thrive (HP:0001508), strabismus (HP:0000486), focal seizures with impairment of awareness (HP:0002384), hydronephrosis (HP:0000126), hemiplegia (HP:0002301), bilateral ureteropelvic junction obstruction (HP:0000074), high-arched palate (HP:0000218), pectus excavatum (HP:0000767), lower extremity weakness (HP:0007340), hemiclonic seizure (HP:0006813), eeg with burst suppression (HP:0010851), global brain atrophy (HP:0002283)
Diagnosis/Initial -
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Age/Examination 08y (8 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 2016-05-10 21:55:03 +02:00 (CEST)
Date last edited N/A

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