Global Variome shared LOVD

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Phenotype #0000284203 Individual ID 00390715 Associated disease NDD Diagnosis/Initial Noonan syndrome Diagnosis/Definite - Phenotype details no intrauterine growth retardation; short stature (-2.2 SD); moderate developmental delay; relative macrocephaly, prominent forehead; strabismus, myopia; Hypertelorism, downslanting palpebral fissures, bilateral ptosis, sparse eyebrows, low and posteriorly rotated ears, mild micrognathia; Short, webbing, low posterior hair line; widely-spaced nipples; Pulmonic stenosis; Cubitus valgus, mild scoliosis, brachydactyly with hyperlaxity of joints, overlapping1st and 2nd toes; multiple nevi; Bifid renal pelvis with vesicoureteral reflux Inheritance Familial, autosomal dominant Age/Examination 25m 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 2021-11-11 17:06:31 +01:00 (CET) Date last edited N/A

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