Global Variome shared LOVD

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Phenotype #0000242937 Individual ID 00324393 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details typical facial features, no microcephaly, no prominent glabella, no short philtrum, no micrognathia, no high forehead, abnormal ears, strabismus, hypertelorism, epicanthal folds, no exophthalmos, no ptosis, no nystagmus, no iris coloboma, no corectopia, high-arched eyebrows, wide nasal bridge, no beaked nose, no cleft lip, no cleft palate, downturned corners mouth, abnormal teeth, no webbed neck ; no intrauterine/postnatal growth retardation; intellectual disability/developmental delay; no hypotonia; no decreased muscle bulk; seizures and/or distinctive EEG abnormalities; no feeding difficulties; no skin changes; no skeletal anomalies; no craniofacial asymmetry; no hearing loss; no heart defects; no eye/optic nerve anomalies; no genitourinary tract anomalies; no structural brain anomalies; no stereotypies; no liver anomalies; no gallbladder anomalies; no gut anomalies; no diaphragm anomalies; no esophagus anomalies; no lung anomalies; no aorta anomalies Inheritance Isolated (sporadic) Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-12-11 13:28:31 +01:00 (CET) Date last edited N/A

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