Global Variome shared LOVD

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Phenotype #0000292637 Individual ID 00399532 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details weight 50 (-1.17), height 142 (-3.69), OFC 53 (-1.41 ); growth failure; developmental/intellectual delay; 2y-walk; speech delay, delayed first words, simple conversation; no hypotonia; seizure, 14y- tegretol treatment; 14y-MRI brain "empty sella"; behavioural anomalies, sensitive, difficulty with changes, treated with Risperdal; no cardiac anomalies; no eye anomalies; no urogenital/kidney anomalies; hands bilateral 3,4 fingers syndactyly; feet repair left vertical talus, wide big toes; scattered nevi; no feeding difficulties; facial dysmorphism, patchy alopecia almost complete from age 3 years - black hair, no eyebrows. Weakness left mouth angle, "scrotal tongue" with midline indentation, high arched palate, protruding auricles; hearing loss- perforation of eardrums, 22y-wearing hearing aids; alopecia Inheritance Isolated (sporadic) Age/Examination 16y (16 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 2022-01-21 14:10:33 +01:00 (CET) Date last edited N/A

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