Global Variome shared LOVD

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Phenotype #0000017598 Individual ID 00019868 Associated disease ID Diagnosis/Initial - Diagnosis/Definite - Inheritance Isolated (sporadic) Phenotype details no brachycephaly, high forehead, no bitemporal narrowing, no horizontal eyebrows, upslanting of palpebral fissures, synophrys, no epicanthus, depressed nasal bridge, bulbous nasal tip, round face, cupid-bow upper lip, no thin vermilion border, prognathism, large ears/thickened helices; no open foramen ovale, no ventricular septal defect, no coarctation of the aorta, no pulmonary atresia, no tetralogy of Tallot, no dextro-looped transposition great arteries, no supracardial total anomalous pulmonary venous connection; moderate intellectual disability/developmental delay; motor delay; no motor delay; no hypotonia; mild ataxia/motor incoordination; choreiform movements; seizures; brain anomalies; no brain anomalies; macrocephaly; central obesity; cubitus valgus Age/Examination 12y (12 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Giuseppe Marangi Database submission license No license selected Created by Giuseppe Marangi Date created 2014-09-09 20:56:30 +02:00 (CEST) Date last edited 2020-10-08 11:04:40 +02:00 (CEST)

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