Global Variome shared LOVD

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Phenotype #0000230431 Individual ID 00303354 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details see paper; ..., no abnormalities during pregnancy; normal delivery; birth term; mild intellectual disability; developmental delay, mild; motor delay, mild; speech delay, severe, 6y-no speech; no dysarthria; no epilepsy; 4m-mild, generalized hypotonia; no spasticity; no ataxia; MRI brain normal (infancy); 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; hypermobility joints; mild constipation; no urogenital abnormalities; No; normal skin, normal hair, normal nails; no neoplasms Inheritance Isolated (sporadic) Age/Examination 08y09m (8 years, 9 months) 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 16:44:05 +02:00 (CEST)

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