Global Variome shared LOVD

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Phenotype #0000355403 Individual ID 00470254 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite MRD21 Inheritance Isolated (sporadic) Phenotype details see paper; ... birth-40w, weight small for gestational age, length small for gestational age, OFC small for gestational age; <1y-feeding difficulties; weight 20 kg (-2.35SD), height 125.5 cm (-3.15SD), OFC 48.2 cm (-3.51SD); developmental delay, intellectual disability (IQ64); 24m-walk; 4y-first words; no behavioral anomalies; ultrasound brain wide ventricles, plexus cyst; no recurrent infections; hypermetropia, strabism; normal hearing; inguinal hernia; small mouth, prominent incisors, small other teeth, thin upper lip; atrial septum defect, persistent ductus arteriosus, mild aortic coarctation, cleft palate, prominent finger joints, single palmar crease, sacral dimple, camptodactyly V Age/Examination 9y6m (9 years, 6 months) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2025-11-29 16:20:27 +01:00 (CET) Date last edited N/A

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