Global Variome shared LOVD

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

Phenotype #0000325558 Individual ID 00435364 Associated disease CHARGE Phenotype details Abnormality of the genitourinary system, Prelingual sensorineural hearing impairment, Preaxial hand polydactyly, Global developmental delay, Plagiocephaly, Atrial septal defect, Cranial nerve paralysis, Infantile muscular hypotonia Diagnosis/Initial - Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination 01y (1 year) Age/Diagnosis - Age/Onset - Phenotype/Onset - Cleft ? Eye/Orbital nr Protein - Eye/Ball ? Fistula ? Owner name Andreas Laner Database submission license Creative Commons Attribution 4.0 International Created by Andreas Laner Date created 2023-07-20 17:29:40 +02:00 (CEST) Date last edited 2023-07-21 14:07:57 +02:00 (CEST)

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