Global Variome shared LOVD

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

Phenotype #0000352914 Individual ID 00467762 Associated disease RSTS Diagnosis/Initial - Diagnosis/Definite - Phenotype details Intellectual disability, Hypoplastic fifth toenail, Clinodactyly, Shortening of all distal phalanges of the fingers, Obesity, Neurodevelopmental abnormality, Arrhythmia, Abnormality of the face Inheritance Unknown Age/Examination 07y (7 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Andreas Laner Database submission license Creative Commons Attribution 4.0 International Created by Andreas Laner Date created 2025-10-29 13:25:06 +01:00 (CET) Date last edited 2025-10-30 13:15:36 +01:00 (CET)

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