Global Variome shared LOVD

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Phenotype #0000284204 Individual ID 00390716 Associated disease NDD Diagnosis/Initial Noonan syndrome Diagnosis/Definite - Phenotype details no intrauterine growth retardation; no short stature (10-25th centile); mild developmental delay; relative macrocephaly, prominent forehead; Astigmatism, myopia; Hypertelorism, ptosis, downslanting palpebral fissures, high-arched palate, thick lips, micrognathia, low-set and posteriorly rotated ears,; short neck, webbing, low posterior hair line; widely-spaced nipples, pectus excavatum; no cardiac defects; Cubitus valgus, hyperlax fingers; normal skin; Celiac disease Inheritance Familial, autosomal dominant Age/Examination 4m15d 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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