Global Variome shared LOVD

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

Phenotype #0000308437 Individual ID 00416926 Associated disease DEE11 Phenotype details Macrocephaly HP:0000256 Ventriculomegaly HP:0002119 Supraventricular tachycardia HP:0004755 Cardiomegaly HP:0001640 Decreased body weight HP:0004325 Simplified gyral pattern HP:0009879 Low-set ears HP:0000369 Blepharophimosis HP:0000581 Epicanthus HP:0000286 Hypertelorism HP:0000316 Retrognathia HP:0000278 Hypotonia HP:0001252 Seizure HP:0001250 Fever HP:0001945 Hyponatremia HP:0002902 Hypoglycemia HP:0001943 Anemia HP:0001903 Diagnosis/Initial supraventricular tachyarrhythmias (SVT) Inheritance Isolated (sporadic) Diagnosis/Definite DEE11 Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Edoardo Errichiello Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Edoardo Errichiello Date created 2022-09-11 11:12:36 +02:00 (CEST) Date last edited 2022-09-12 10:26:45 +02:00 (CEST)

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