Global Variome shared LOVD

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Phenotype #0000242356 Individual ID 00320343 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite - Inheritance Isolated (sporadic) Phenotype details no neonatal features; birth 39w, weight –1SD, length -1SD, OFC –1SD; length 1SD, OFC +0.5SD, BMI 95th; significant developmental delay; not walking; no speech; no epilepsy; no developmental regression; hypotonia; no behavioural issues; widely spaced eyes; flat nasal bridge; no coarseness; no hypertrichosis; thick lips; no pink and full cheeks; almond-shaped eyes; thick earlobes; no flat feet; no hyperlordosis; no hip dislocation; no genu valgum; abnormal skin pigmentation; no umbilical hernia; normal eyes; conductive hearing loss; –; no recurrent infections Age/Examination 12m Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-11-27 13:30:34 +01:00 (CET) Date last edited N/A

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