Global Variome shared LOVD

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Phenotype #0000223022 Individual ID 00289410 Associated disease NDD Diagnosis/Initial - Diagnosis/Definite - Phenotype details birth 37w, length 47cm (10th-25th), weight 3.000kg (10th-25th); height 172cm (90th-97th), weight 89kg (97th), head 57cm (+2.5SD); no prenatal anomalies; congenital heart disease, bilateral cleft lip/palate; motor delay; walk-24m; speech delay; first words~5y; intellectual disability (IQ53); severe temper tantrums; large forehead; low-set posteriorly rotated ears; hypertelorism, sparse and thin eyebrows; prominent nasal bridge, bulbous nasal tip; bilateral cleft lip/palate; normal chin; distally tapered, long fingers; clinodactyly 5th fingers; short wide feet, pes cavus, short broad halluces; no hearing impairment; strabismus; atrial septal defect; no respiratory abnormality; no astrointestinal abnormality; no skin abnormality; sleep apnea; Inheritance Isolated (sporadic) Age/Examination 20y (20 years) Age/Diagnosis 20y 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 2020-03-08 16:45:25 +01:00 (CET) Date last edited N/A

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