Phenotype #0000050912

Individual ID 00064754
Associated disease DD
Phenotype details see paper; ..., global developmental delay (HP:0001263), hypotonia (HP:0001252), seizures (HP:0001250), growth delay (HP:0001510), multifocal eeg abnormality (HP:0010841), expressive language delay (HP:0002474), inability to walk (HP:0002540)nystagmus (HP:0000639), developmental regression (HP:0002376), hydronephrosis (HP:0000126), asthma (HP:0002099)
Diagnosis/Initial -
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Age/Examination 10y (10 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 22:10:01 +02:00 (CEST)
Date last edited N/A

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