Global Variome shared LOVD

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Phenotype #0000292633 Individual ID 00399528 Associated disease NDD Diagnosis/Initial Cornelia de Lange syndrome Diagnosis/Definite - Phenotype details weight 26.5 (-2), height 116 (-4.5), OFC 52 (-1); growth failure; severe developmental/intellectual delay ; not walking; speech delay, 3 y-first words, few words; hypotonia;; 3y-MRI brain normal; no cardiac anomalies; no eye anomalies; bilateral pyelectasis; normal hands; feet bilateral talipes equinovarus; scoliosis; facial dysmorphism, arched eyebrows; short nose; long philtrum; triangular mouth, arched eyebrows; short nose; long philtrum; triangular mouth; hypertrichosis Inheritance Isolated (sporadic) Age/Examination 11y5m (11 years, 5 months) 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 2022-01-21 14:10:33 +01:00 (CET) Date last edited N/A

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