Global Variome shared LOVD

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Phenotype #0000297013 Individual ID 00404421 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details small in utero; height 166.5 cm (+0.71 SD), weight 53 kg (+0.56 SD), OFC 53.3 cm (-1.49 SD); low muscle tone, tip toe walking; normal; mild intellectual disability, developmental delay, speech delay, social communication difficulties; prominent and wide nasal bridge, short columnella, thin vermillion of upper and lower lip, smooth philtrum, widely spaced teeth; no feeding problems; normal skin; no urogenital anomalies; sandal gap, 2-3 toe syndactyly; no hearing loss; myopia; normal haematopoiesis, normal iImmune functioning; na Inheritance Isolated (sporadic) Age/Examination 13y8m (13 years, 8 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 2022-03-02 10:20:20 +01:00 (CET) Date last edited N/A

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