Global Variome shared LOVD

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Phenotype #0000242940 Individual ID 00324398 Associated disease ? Diagnosis/Initial developmental delay Diagnosis/Definite WHSC1 Phenotype details typical facial features, microcephaly, no prominent glabella, short philtrum, micrognathia, no high forehead, abnormal ears, no hypertelorism, no epicanthal folds, no exophthalmos, no ptosis, no high-arched eyebrows, wide nasal bridge, no beaked nose, no cleft lip, no cleft palate, downturned corners mouth, abnormal teeth, no webbed neck ; intrauterine/postnatal growth retardation; intellectual disability/developmental delay; hypotonia; no decreased muscle bulk; no seizures and/or distinctive EEG abnormalities; feeding difficulties; no skin changes; no skeletal anomalies; craniofacial asymmetry; 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 00y34m (34 months) 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 13:44:20 +01:00 (CET) Date last edited N/A

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