Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000129037 Individual ID 00163925 Associated disease OFD14 Phenotype details molar tooth sign (HP:0002419), global developmental delay (HP:0001263), lobulated tongue (HP:0000180), micrognathia (HP:0000347), retinal coloboma (HP:0000480), posteriorly rotated ears (HP:0000358), intrauterine growth restriction (HP:0001511), hypotonia (HP:0001290) Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset <00y Phenotype/Onset - Protein - Owner name Nicole Boczek Database submission license No license selected Created by Nicole Boczek Date created 2018-04-23 18:35:21 +02:00 (CEST) Date last edited 2018-05-04 15:19:22 +02:00 (CEST)

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