Global Variome shared LOVD

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Phenotype #0000307207 Individual ID 00415413 Associated disease NDD Diagnosis/Initial - Diagnosis/Definite - Phenotype details intrauterine growth retardation; 41w birth uneventful, length 44cm (-3.73), weight 2320g (-2.93), OFC 31.2 (-3.08); height <P3, weight <P3, OFC -3SD; mild intellectual disability (WISC-III IQ 54); walk-14m; 5y-toilet training; 14m-first words. language delay; no behavioral issues; no seizures; ultrasound after birth subependymal and intrathalamic hyperechogenic spots; bilateral conductive hearing impairment; mild mitral valve prolaps; no; no genitourinary abnormalities; syndaktyly II-III feet, mild scoliosis, pes cavus bilateral; cleft palate, surgically corrected Inheritance Isolated (sporadic) Age/Examination 07y02m (7 years, 2 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 17:05:27 +02:00 (CEST) Date last edited N/A

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