Global Variome shared LOVD

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Phenotype #0000082483 Individual ID 00104566 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite - Inheritance Isolated (sporadic) Phenotype details born at term after, uneventful pregnancy; birth weight/height/head circumference normal; mild developmental delay, hypotonia, lingual protrusion; 11m-crawling, 24m-walking; 6y-intellectual disability, severe attention and learning difficulties, autistic traits preferring to be alone; 7y-started to speak few words; 10y facial dysmorphy with mandibular prognathism, open mouth fixed O position, protruded tongue, bushy eyebrows, flat philtrum; MRI brain and ECG normal; metabolic investigations normal except rISED serum creatine phosphokinase (341IU) Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Karine Poirier Database submission license No license selected Created by Johan den Dunnen Date created 2017-05-15 16:40:16 +02:00 (CEST) Date last edited 2019-03-01 10:40:51 +01:00 (CET)

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