Global Variome shared LOVD

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Phenotype #0000223021 Individual ID 00289409 Associated disease NDD Diagnosis/Initial - Diagnosis/Definite - Phenotype details birth 38w, weight 3.070kg (10th-25th); height 178.5cm (50th-75th), weight 73kg (50th-75th), head 56.4cm (75th-90th); no prenatal anomalies; motor delay; walk-17m; speech delay; intellectual disability (IQ45); epilepsy; MRI brain 5y normal; autism; large forehead; protruding ears; hypertelorism, long palpebral fissures, sparse and thin eyebrows; normal nose; normal mouth; pointed chin; no hearing impairment; no ophthalmologic abnormality; urogenital abnormality; hypothyroidism; sleep disturbance; Inheritance Isolated (sporadic) Age/Examination 17y9m (17 years, 9 months) Age/Diagnosis 17y9m 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 2020-03-08 16:45:25 +01:00 (CET) Date last edited N/A

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