Global Variome shared LOVD

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Phenotype #0000310214 Individual ID 00418926 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite MRD62 Phenotype details normal pregnancy; birth 40w, length 51cm, weight 3630g, OFC 35cm; weight 23kg, height 122cm, OFC 52cm; delayed motor mevelopment; delayed language development (only few words); no regression; moderate intellectual disability; autism; attention deficit hyperactivity disorder; no abnormal movements; normal muscle tone; no epilepsy; no skeletal manifestations; no Marfanoid habitus; no peripheral vasomotor disturbances; no genital malformations; no infection tendency Inheritance Unknown Age/Examination 7y (7 years) Age/Diagnosis - Age/Onset 18m 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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