Global Variome shared LOVD

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Phenotype #0000254893 Individual ID 00359620 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details birth 38w, weight 2040g (<3rd centile, length 47cm (10 centile); neonatal jaundice, nasogastric tube feeding (1w); weight 80.3kg 16y9m (95th percentile), 88kg 18y2m (97th centile), length 150.4cm 18y2m (2nd percentile); anterior anus with rectovaginal fistula; moderate hypotonia; moderate intellectual disability; normal vision; normal hearing; no seizures; MRI-brain mild ventriculomegaly; thick, light blonde eyebrows; deep-set eyes, upslanting palpebral fissures, epicanthic folds; early childhood short nose; very round cheeks; thin upper vermilion border, wide mouth; large ears with large and long ear lobes; short neck with excess skin at base neck (posterior thickening); fair skin; joint laxity; very small hands and feet, fourth metacarpal shortening bilaterally, brachydactyly; ADHD and anxiety requiring medication, hypothyroidism, recurrent otitis media Inheritance Isolated (sporadic) Age/Examination 17y (17 years) Age/Diagnosis - Age/Onset 12m 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 2021-04-02 17:28:47 +02:00 (CEST) Date last edited N/A

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