Global Variome shared LOVD

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Phenotype #0000310212 Individual ID 00418924 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite MRD62 Phenotype details Caesarean section because of breech; birth 38w3d, weight 3250g; weight normal, height P25, OFC p75; delayed motor mevelopment; delayed language development; VIQ=91, PIQ=70; easily overstimulated; normal muscle tone; no epilepsy; EEG focal (centro-parietal; right); MRI normal; cortical blindness; full cheeks; hypertelorism short palpebral fissures deep-set eyes downslanting palpebral fissures; short philtrum; full lips tented lip; short, broad hands, dysmorphic fingers, short toes with small nails; Inheritance Isolated (sporadic) Age/Examination 3y (3 years) 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 2022-10-13 19:59:42 +02:00 (CEST) Date last edited N/A

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