Global Variome shared LOVD

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

Phenotype #0000333782 Individual ID 00444529 Associated disease NDD Diagnosis/Initial neurodevelopmental disorders Diagnosis/Definite - Phenotype details Strabismus, Sleep disturbance, Short stature, Short neck, Retinal detachment, Premature birth, Preaxial polydactyly, Micropenis, Microcephaly, Low-set ears, Involuntary movements, Hypotelorism, Hypermetropia, Duplication of thumb phalanx, Duodenal atresia, Decreased body weight, Clinodactyly of the 5th finger, Arrhythmia Inheritance Isolated (sporadic) Age/Examination 10y-20y Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2023-12-24 18:16:19 +01:00 (CET) Date last edited N/A

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