Global Variome shared LOVD

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Phenotype #0000319019 Individual ID 00428073 Associated disease NDD Diagnosis/Initial neurodevelopmental dealy Diagnosis/Definite - Phenotype details brith 39w+1; absent speech; delayed gross motor development; normal fine motor milestones; global developmental delay; 3y-focal seizures, well controlled; autism; central hypotonia; MRI brain normal; episodes of rage, ABA therapy; infancy failure to thrive; feeding problems, G-tube; dysmotility; no hypoventilation; no vision/eye abnormalities; no hearing impairment; no dysmorphic features; no congenital anomalies; muscle biopsy complex I defect, muscle structure normal on histochemicalanalysis and electron microscopy; severe dysautonomia (severe GI dysmotility, heart rate, temperature dysregulation), migraine headaches; episodic elevation of NH4 and ALT levels Inheritance Isolated (sporadic) Age/Examination 9y (9 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 2022-12-21 10:47:09 +01:00 (CET) Date last edited N/A

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