Global Variome shared LOVD

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

Phenotype #0000270737 Individual ID 00375520 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details Renal cyst (HP:0000107); Microcephaly (HP:0000252); Hearing impairment (HP:0000365); Ptosis (HP:0000508); Failure to thrive (HP:0001508); Scoliosis (HP:0002650); Multiple joint contractures (HP:0002828); Myopathy (HP:0003198); Psychomotor retardation (HP:0025356) Inheritance Unknown Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name IMGAG Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by IMGAG Date created 2021-06-08 15:13:41 +02:00 (CEST) Date last edited 2021-06-09 09:20:22 +02:00 (CEST)

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