Global Variome shared LOVD

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Phenotype #0000230658 Individual ID 00303595 Associated disease NDD Diagnosis/Initial neurodevelopmental disorder Diagnosis/Definite IDDSADF Phenotype details birth 40w6d; induced because of pre-eclampsia, cyanotic episode 2h after birth; height 9-25 centile, weight 25-50 centile, OFC 50-75 centile; walk-21m; delay in gross and fine motor skills; hypotonia; speech 21m-3 single words, now talks in sentences although words can be indistinct; requires extra support at mainstream school; moderate−severe left-sided SNHL, right conductive hearing loss, intermittent right strabismus; Left plagiocephaly, low post hairline, upper back and arms hirsute, prominent lower jaw; normal renal USS; borderline biotinase level, high-pitched scream as an infant, 6w-torticollis Inheritance Isolated (sporadic) Age/Examination 6y (6 years) 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 2020-06-16 23:30:21 +02:00 (CEST) Date last edited N/A

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