Global Variome shared LOVD

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Phenotype #0000341638 Individual ID 00452992 Associated disease NDD Diagnosis/Initial neurodevelopmental disorder Diagnosis/Definite - Phenotype details birth full-term, cesarean delivery, weight 1.98 kg; severe intellectual disability (HP:0001249); neurodevelopmental delay (HP:0012758); scoliosis, varus proximal tibia, hand joint deformity, musculoskeletal abnormalities (HP:0033127); seizure (HP:0001250); facial dysmorphism (HP:0001999); MRI brain normal (-HP:0410263); no abnormality genitourinary system (-HP:0000119); microcephaly (HP:0000252); sensorineural hearing impairment (HP:0000365); failure to thrive (HP:0001508); congenital heart disease (HP:0001627); autistic behavior (HP:0000729); microtia Inheritance Isolated (sporadic) Age/Examination 25y (25 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 2024-08-10 16:01:26 +02:00 (CEST) Date last edited N/A

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