Global Variome shared LOVD

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Phenotype #0000242941 Individual ID 00324399 Associated disease ? Diagnosis/Initial syndromic intellectual disability Diagnosis/Definite - Phenotype details typical facial features, microcephaly, prominent glabella, no short philtrum, no micrognathia, high forehead, abnormal ears, no strabismus, hypertelorism, epicanthal folds, no exophthalmos, no ptosis, high-arched eyebrows, wide nasal bridge, no beaked nose, no cleft lip, no cleft palate, no downturned corners omouth, abnormal teeth, no webbed neck ; no intrauterine/postnatal growth retardation; intellectual disability/developmental delay; hypotonia; no seizures and/or distinctive EEG abnormalities; skeletal anomalies; no craniofacial asymmetry; liver 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 14:01:42 +01:00 (CET) Date last edited N/A

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