Global Variome shared LOVD

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

Phenotype #0000187396 Individual ID 00248402 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details HP:0005105 (Abnormal nasal morphology); HP:0001249 (Intellectual disability); HP:0000316 (Hypertelorism); HP:0010882 (Pulmonary valve atresia); HP:0002121 (Absence seizures); HP:0000256 (Macrocephaly); HP:0010954 (Hypoplastic right heart); HP:0011220 (Prominent forehead); HP:0001744 (Splenomegaly); HP:0000475 (Broad neck) Inheritance Unknown Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Andreas Laner Database submission license Creative Commons Attribution 4.0 International Created by Andreas Laner Date created 2019-07-23 17:05:26 +02:00 (CEST) Date last edited 2019-09-30 12:26:24 +02:00 (CEST)

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