Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000231368 Individual ID 00305519 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details birth 37w, weight 3286 (normal); height 156.5 (-2.7 SD), weight 68.9 (normal), OFC 62 (+2.7 SD); mild intellectual disability; developmental delay; motor delay; no speech delay; no dysarthria; epilepsy, iIntermittent shaking R side of body, EEG-abnormal activity in temporal area L; hypotonia; no spasticity; no ataxia; autism spectrum disorder, obsessive compulsive disorderno behavioral disturbanceslike, difficulties social behavior; no sleep disturbances; facial abnormalities; G-tube feeding until age 16; Mild central obesity; No clinodactyly; Poor fine motor skills; MRI-brain normal, no holoprosencephaly Inheritance Isolated (sporadic) Age/Examination 22y (22 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 2020-06-28 10:52:31 +02:00 (CEST) Date last edited N/A

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