Global Variome shared LOVD

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Phenotype #0000231401 Individual ID 00305552 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details birth 40w, weight 2948 (normal), OFC (<-2.0 SD); height 161 (<-3.0 SD), weight 49.4 (normal), OFC 49.7 (<-3.0 SD); moderate intellectual disability; developmental delay; no motor delay; speech delay; no dysarthria; 2y-epilepsy; no hypotonia; no spasticity; no ataxia; no behavioral disturbances; no sleep disturbances; facial abnormalities; Aortic root dilation, on losartan: NA; no dysphagia/feeding difficulties: NA: Scoliosis; no hearing abnormalities; Myopia: NA; Dystonia; MRI-brain no holoprosencephaly, Chiari 1 malformation, microcephaly 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 2020-06-29 13:46:03 +02:00 (CEST)

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