Global Variome shared LOVD

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

Phenotype #0000307041 Individual ID 00415243 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details birth 40w, weight 4,210 g (+1.05 SD), length 55 cm (+2 SD), ; no neonatal problems; 15y9m-height 146.5 cm (-3.28 SD), weight 29.2 kg (-4.42 SD), OFC 47.4 cm (-5.98 SD); 29m-sit; 4y9m-walk; no speech; happy demeanor; generalized epilepsy, 11y-drop attacks, 15y-myoclonus, 16y-fever-associated focal seizures then generalized seizures; hypotonia, truncal ataxia; MRI brain 2y-hypomyelination, corpus callosum hypoplasia; ECG atrioventricular block type 1, reduced ventricular function with EF 0.82, Holter ECG; monomorphic ventricular extasystolia, shortened PQ period under effort; strabismus convergens, 16y-ablatio retinae left with unilateral amaurosis; recurrent infections (pneumonia) Inheritance Familial, autosomal recessive Age/Examination 17y (17 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 2022-08-10 16:14:56 +02:00 (CEST) Date last edited N/A

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