Global Variome shared LOVD

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Phenotype #0000297028 Individual ID 00404436 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details birth 40w length 49 cm (-0.65 SD)birth 40w length 49 cm (-0.65 SD), weight 2.960 kg (-0.99 SD); height 130.5 cm (-1.92 SD), 11y6m-weight 31.3 kg (-1.08 SD), OFC 11 yrs 6 mnths - 50 cm (-3.26 SD); hypotonia; intellectual disability; deep set eyes, thin upper lip, prognathism; no feeding problems; normal skin; no urogenital anomalies; very pronated/flat feet, mild scoliosis; no hearing loss; normal vision; normal haematopoiesis, normal iImmune functioning; Inheritance Isolated (sporadic) Age/Examination 10y11m (10 years, 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 2022-03-02 10:20:20 +01:00 (CET) Date last edited N/A

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