Global Variome shared LOVD

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Phenotype #0000230433 Individual ID 00303356 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details see paper; ..., no abnormalities during pregnancy; normal delivery; birth 37w; mild intellectual disability, learning difficulties; developmental delay, mild global; motor delay, walking at 2y; speech delay, severe, first words at 4-5y; no dysarthria; EEG normal; hypotonia; no spasticity; no ataxia; anxiety, mild autism spectrum disorder-features; no sleep disturbances; MRI brain normal; no regression; no other neurological abnormalities; facial asymmetry; dental malposition; no drooling, dysphagia; no hearing abnormalities; myopia; aortic bicuspidy; kyphoscoliosis, dolichostenomelia, pectus excavatum; hyperlaxity; no gastrointestinal abnormalities; no urogenital abnormalities; no endocrine/metabolic abnormalities; no immunological abnormalities; normal skin, normal hair, normal nails; no neoplasms; Marfanoid (long and thin) habitus; normal serum alkaline phosphatase levels (75UI/L) Inheritance Isolated (sporadic) Age/Examination 41y (41 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 14:09:41 +02:00 (CEST)

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