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 InternationalCreative Commons License
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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