Global Variome shared LOVD

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

Phenotype #0000245494 Individual ID 00327049 Associated disease - Phenotype details -RIDDLE-Like presentation -Mild to moderate hearing loss -Learning disability (ADHD) -Moderate intellectual disability -Delayed developmental milestones -25th-50th%ile height -10-25th %tle weight -3rd %ile head circumference -bracycephaly -micrognathia -1 cafe au lait spot Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite - Age/Examination 11y (11 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Lance P Doucette Database submission license No license selected Created by Lance P Doucette Date created 2021-01-19 19:06:38 +01:00 (CET) Date last edited 2021-01-21 13:34:07 +01:00 (CET)

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