Global Variome shared LOVD

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Phenotype #0000231378 Individual ID 00305529 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details birth 37w, weight 2130 (normal), OFC 27.5 (normal); height 72 (-3 SD), weight 5.6 (-5.6 SD), OFC 34.4 (-9 SD); severe intellectual disability; developmental delay (severe); motor delay (severe); speech delay (severe); dysarthria (severe); epilepsy, one epileptic episode; hypotonia; no spasticity; no ataxia; no sleep disturbances; facial abnormalities; no cardiac abnormalities; no dysphagia/feeding difficulties; MRI-brain no holoprosencephaly, severe microcephaly, pachygyria Inheritance Isolated (sporadic) Age/Examination 1y8m (1 year, 8 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 2020-06-28 10:52:31 +02:00 (CEST) Date last edited N/A

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