Global Variome shared LOVD

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

Phenotype #0000350614 Individual ID 00464623 Associated disease EIEE30 Phenotype details Large for gestational age, Feeding difficulties, Neurodevelopmental delay, Motor delay, Delayed speech and language development, Intellectual disability, Frequent falls, Recurrent infections, Hypotonia, Facial hypotonia, Epicanthus, Hypertelorism, Thin upper lip vermilion, Coarctation of aorta, Abnormality of coagulation Diagnosis/Initial - Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination 04y (4 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Andreas Laner Database submission license Creative Commons Attribution 4.0 International Created by Andreas Laner Date created 2025-04-03 15:58:56 +02:00 (CEST) Date last edited 2025-04-07 10:39:52 +02:00 (CEST)

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