Global Variome shared LOVD

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

Phenotype #0000257457 Individual ID 00362044 Associated disease ? Diagnosis/Initial intellectual disability Diagnosis/Definite - Phenotype details intellectual disability; motor developmental delay; speech delay; no ataxia; no seizures; hypotonia; MRI brain normal; no long face; no deep philtrum; no tall forehead; no high nasal bridge; no straight eyebrows; strabismus; normal ears; normal chin; hypertelorism; congenital heart disease (atrial septal defect) Inheritance Isolated (sporadic) Age/Examination 1y11m (1 year, 11 months) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2021-04-15 11:18:09 +02:00 (CEST) Date last edited N/A

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