Global Variome shared LOVD

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

Phenotype #0000353050 Individual ID 00467898 Associated disease SOTOS Phenotype details Neurodevelopmental delay, Macrocephaly, High hypermetropia, Prominent forehead, Tall stature, Inguinal hernia, Abnormal renal pelvis morphology Diagnosis/Initial - Inheritance Unknown Diagnosis/Definite - Age/Examination 01y (1 year) Age/Onset - Phenotype/Onset - Protein - Owner name Andreas Laner Database submission license Creative Commons Attribution 4.0 International Created by Andreas Laner Date created 2025-11-03 15:39:16 +01:00 (CET) Date last edited 2025-11-11 11:01:02 +01:00 (CET)

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