Global Variome shared LOVD

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Phenotype #0000307208 Individual ID 00415414 Associated disease NDD Diagnosis/Initial - Diagnosis/Definite - Phenotype details intrauterine growth retardation, neonatal jaundice, generalized hypotonia; 39w birth C-section (because of intrauterine growth retardation), length 47cm (-1.78), weight 2150g (-2.66); height 104cm (-1.88), weight 13,8Kg (-2.7), OFC 46.5cm (-4.21), BMI 12.8 (-2.28); severe intellectual disability (4y3m-global IQ 24); walk-14m; 18m-first words, absent language; mixed-specific developmental disorder; no autistic features (4y3m-ADOS 1); hyperactivity, motor stereotipies; no seizures, EEG normal; 5y6mMRI brain normal; hypotonia; no hearing loss; no ophthalmological abnormalities; no cardiovascular abnormalities; Neonatal feeding difficulties due to poor suction; no genitourinary abnormalities; normal immunoglobulin levels and lymphocyte subpopulations; no skeletal and limb abnormalities; nevus depigmentosus 8x10.3 cm Inheritance Isolated (sporadic) Age/Examination 05y06m (5 years, 6 months) 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 2022-08-13 17:10:02 +02:00 (CEST) Date last edited N/A

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