Global Variome shared LOVD

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

Phenotype #0000272460 Individual ID 00377309 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details no cleft palate; no congenital heart defect; dysmorphic, wide mouth; pes planus, long and narrow feet; intellectual disability; four large CAL spots, hypotonia, MRI broad sulci Inheritance Isolated (sporadic) Age/Examination 10y9m (10 years, 9 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 2021-07-22 10:42:59 +02:00 (CEST) Date last edited N/A

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