Global Variome shared LOVD

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Phenotype #0000231398 Individual ID 00305549 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details birth 41+3w, weight 2580 (<-3 SD); height 106.5 (-3 to -4SD), weight 16.8 (normal), OFC 46,3 (-5 SD); intellectual disability; developmental delay; motor delay (walking age 2yrs); speech delay (single words at 7); dysarthria (slurred speech); no epilepsy; hypotonia; no spasticity; ataxia; No stranger danger awareness, dislikes busy environments; On melatonin; facial abnormalities; no urogenital abnormalities; PEG feeding tube; More often respiratory tract infections than usual; No; no hearing abnormalities; Diminished sight eye L, very photo sensitive; no ectodermal abnormalities; normal hands, normal feet; MRI-brain no holoprosencephaly, Chiari 1 Inheritance Isolated (sporadic) Age/Examination 7y9m (7 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 2020-06-28 10:52:31 +02:00 (CEST) Date last edited N/A

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