Global Variome shared LOVD

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

Phenotype #0000307042 Individual ID 00415244 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details 38w increased nuchal translucency, chylothorax; birth weight 3,290 g +(0.87 SD), length 49 cm (-0.44 SD), OFC 34 cm (-0.8 SD); neonatal hypotonia, poor feeding; 3,040 g (−0.8 SD)-height 128.5 (-2.5 SD), weight 23 kg (-2,5 SD), OFC 50 (-3SD); 20m-sit; 7y-walk; 7y-first words; happy demeanor; no seizures, 2y-EEG normal; hypotonia; MRI brain 5y-cortical atrophy, ventricular dilatation, thin corpus callosum; atrial septal defect, ostium secondum; horizontal nystagmus; no recurrent infections Inheritance Familial, autosomal recessive Age/Examination 14y2m (14 years, 2 months) 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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