Global Variome shared LOVD

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Phenotype #0000210502 Individual ID 00275903 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite SNIBCPS Phenotype details global developmental delay; walk-2y; speech sentences; severe delay, yet verbal skills scored as relative strength; Mild intellectual disability; no autism/autistic features; no ADHD/ADD; normal weight; normal height; macrocephaly; MRI-brain encephalomalacia left temporal and parietal lobes; no wide CSF spaces; no epilepsy, no seizures; Parkinsonism since 1-2 years, resting/pill-rolling tremor, progressive weakness, swallowing difficulties, long standing equinovarus posturing of one foot; tall forehead; no widely spaced eyes; normal palate; normal vision; normal heart; normal kidneys; no male genital abnormalities; no hernias; equinovarus and high arched foot (only left); Recently volvulus with colonic ischemia. Ptosis. Inheritance Isolated (sporadic) Age/Examination 59y (59 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 2020-01-20 21:55:37 +01:00 (CET) Date last edited N/A

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