Global Variome shared LOVD

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Phenotype #0000130124 Individual ID 00164989 Associated disease DD Phenotype details see paper; ..., severe developmental delays with absent speech, cataracts and microphthalmia, facial anomalies with wide-set eyes, broad nasal bridge, down-turned corners of the mouth, pectus deformity and abnormal thumbs Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Anne Slavotinek Database submission license No license selected Created by Johan den Dunnen Date created 2018-07-04 08:38:17 +02:00 (CEST) Date last edited 2019-04-11 12:09:33 +02:00 (CEST)

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