Global Variome shared LOVD

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Phenotype #0000325763 Individual ID 00435578 Associated disease NDD Diagnosis/Initial epilepsy, intellectual disability Diagnosis/Definite DEE54 Phenotype details see paper; ..., birth 34w, weight 1815g (-1.24); weight 1.89kg (-2.73), height 42cm (-3.42), OFC 27cm (-4.93); microcephaly; short stature; hypotonia; onset neonatal, focal myoclonic seizures; no prominent metopic ridge; no deep set eyes; hypertelorism; no depressed nasal bridge; short nose; no anteverted nares; bulbous nasal tip; long philtrum; thin upper vermillion; micro/retrognathia; short neck; low set ears, big ears; normal corpus callosum, cystic lesion between posterior fossa and 4th ventricle, Dandy Walker malformation; feeding difficulties; patent ductus arteriosus; renal pelvic ectasia; joint contractures, clonus on extremities, hypospadia, scrotal raffe, 10 ribs Inheritance Isolated (sporadic) Age/Examination 25d 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 2023-08-04 19:02:00 +02:00 (CEST) Date last edited N/A

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