Global Variome shared LOVD

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Phenotype #0000330495 Individual ID 00440583 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details deceased, cardiorespiratory arrest during sleep, possibly in setting of intercurrent illness, on background of severe neurological impairmen; tbirth 41w, weight 3780g, OFC 37.5cm; MRI brain hypoxic ischemic encephalopathy; large ventricular septal defect, moderate size atrial septal defect/patent ductus arteriosus; hypotonia; tall vertebral bodies, anomalous ribs (first 3), non ossified patella; hypospadias; no hearing loss; severe global developmental delay; microcephaly (<3.0%); no head control prior to death; seizures, EEG w/ persistent epileptiform discharges, possibility of infantile spasms; on home oxygen; tube fed; transient neonatal thrombocytopenia; hypothyroidism, may be transient; no abnormalities hand/feet; retrognathia, unusual philtrum with very narrow deep midline groove, tented mouth with downturned corners, pointed chin, maxillary areas appear small; no ophthalmological anomalies; Inheritance Unknown Age/Examination 4m 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 2023-11-04 14:53:49 +01:00 (CET) Date last edited N/A

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