Global Variome shared LOVD

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Phenotype #0000185033 Individual ID 00222801 Associated disease DD Phenotype details global developmental delay, non-verbal; microcephaly, delayed myelination, frontal narrowing, large ears with hypoplastic earlobes, low weight, scoliosis; Maternal half-brother: developmental delay, learning disabilities, non-verbal Diagnosis/Initial developmental delay Inheritance Unknown Diagnosis/Definite - Age/Examination 16y (16 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Elena Repnikova Database submission license No license selected Created by Johan den Dunnen Date created 2019-07-01 19:01:02 +02:00 (CEST) Date last edited N/A

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