Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000328310 Individual ID 00438406 Associated disease epilepsy Phenotype details HP:0001250 seizures; HP:0000574 thick eyebrow; HP:0001263 global developmental delay; HP:0001265 hyporeflexia; HP:0008897 postnatal growth retardation; HP:0001641 abnormality of the pulmonary valve; HP:0001601 laryngomalacia; HP:0002090 pneumonia; HP:0002876 episodic tachypnea; HP:0012735 cough; HP:0004395 malnutrition Diagnosis/Initial epilepsy Inheritance Familial, X-linked recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset 2m Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2023-10-20 19:13:42 +02:00 (CEST) Date last edited N/A

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