Global Variome shared LOVD

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Phenotype #0000230429 Individual ID 00303352 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details see paper; ..., no abnormalities during pregnancy; normal delivery; birth term; no intellectual disability; no developmental delay; no motor delay; no speech delay; dysarthria; no epilepsy; no hypotonia; no spasticity; generalized ataxia of moderate severity; unexplained progression of cerebellar signs starting at age 27y coinciding intentional weight loss of 16 kg; no behavioral disturbances; no sleep disturbances; MRI brain cerebellar atrophy; no regression; no other neurological abnormalities; no facial dysmorphisms; no dental/oral abnormalities; no drooling, dysphagia; no hearing abnormalities; no vision abnormalities; no cardiac abnormalities; no skeletal abnormalities, no limb abnormalities; no hypermobility joints; no gastrointestinal abnormalities; no urogenital abnormalities; muscle inflammation - biopsy proven; normal skin, normal hair, normal nails; no neoplasms Inheritance Isolated (sporadic) Age/Examination 33y (33 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 2020-06-10 17:04:23 +02:00 (CEST) Date last edited 2021-04-11 14:54:20 +02:00 (CEST)

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