Global Variome shared LOVD

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Phenotype #0000242353 Individual ID 00320340 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite - Inheritance Isolated (sporadic) Phenotype details pregnancy uncomplicated; neonatal jaundice; birth 39w, weight +1SD; length -2.8SD, OFC +0.5SD, BMI 25 (90th); severe developmental delay/intellectual disability; 30m-walk; 3y-single words; 10y-epilepsy; no developmental regression; no neurological phenotype; autistic behaviour (stereotypies); MRI brain normal; widely spaced eyes; flat nasal bridge; anteverted nares; coarseness; no hypertrichosis; thick lips; pink and full cheeks; no almond-shaped eyes; thick earlobes; no flat feet; no hyperlordosis; no hip dislocation; no genu valgum; no club feet; skin Blaschko’s lines; no umbilical hernia; normal eyes; no hearing loss; no recurrent infections Age/Examination 10y (10 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-11-27 13:30:34 +01:00 (CET) Date last edited N/A

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