Global Variome shared LOVD

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Phenotype #0000296515 Individual ID 00403835 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details normal pregnancy and birth, birth 37w, weight 2900g; weight 70 kg (75th percentile) , height 170 cm (43th percentile) , OFC 54 cm (25th percentile); delayed motor development; 2m-smile; 3m-head control; 10m-sit; 20m-walk; 18m-speech, 5y-impaired speech; no regression; moderate intellectual disability; IQ58 (WISC-IV); mild autism (CARS); anxiety disorder; mild hypotonia (improved with age); clumsiness, ataxia; Increased reflexes; no epilepsy; EEG normal; normal sleep; normal vision; cholesteatoma right ear; mild dysmorphism; downslanting, epicanthus; low-set ears; no joint laxity; scoliosis; Not reported; Nocturnal enuresis, Disease progression is stable Inheritance Familial, autosomal recessive 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 2022-02-24 15:46:26 +01:00 (CET) Date last edited N/A

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