Global Variome shared LOVD

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Phenotype #0000292635 Individual ID 00399530 Associated disease NDD Diagnosis/Initial mucopolysaccharidosis, Noonan syndrome Diagnosis/Definite - Phenotype details weight 12.17 (+0.03), height 78 (-3.18), OFC 49 (+0.56); growth failure; developmental/intellectual delay; 17m-walk; speech delay, 10m-first words, 23m-speech 20-30 words; no hypotonia; no seizures; no behavioural anomalies; normal hands; normal feet; facial dysmorphism, relative macrocephaly, slightly coarse features, downslanting palpebral fissures, low-set and posteriorly roated ears, short neck; cystic hygroma and enlarged fetal kidneys with polyhydramnios prenatally, recurrent otitis media, constipation Inheritance Isolated (sporadic) Age/Examination 1y11m (1 year, 11 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 2022-01-21 14:10:33 +01:00 (CET) Date last edited N/A

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