Global Variome shared LOVD

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

Phenotype #0000231397 Individual ID 00305548 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details birth 32w, weight 1984 (normal); height 174.0 (normal), weight 75.6 (normal), OFC 53.7 (normal); intellectual disability IQ70-80; developmental delay; motor delay; speech delay; epilepsy, due to frontal lobe dysplasia; no hypotonia; no spasticity; no ataxia; autism spectrum disorder, attention deficit disorder, anxiety disorder; no sleep disturbances; no facial abnormalities; no cardiac abnormalities; no hearing abnormalities; Astigmatism/myopia; Twin; MRI-brain no holoprosencephaly, frontal lobe dysplasia Inheritance Isolated (sporadic) Age/Examination 10y (10 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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