Global Variome shared LOVD

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

Phenotype #0000092957 Individual ID 00117487 Associated disease JBTS14 Phenotype details molar tooth sign; posterior fossa abnormality; hydrocephalus; encephalocele; cystic kidney; Nystagmus; strabismus Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 07y (7 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Lijia Huang Database submission license No license selected Created by Lijia Huang Date created 2013-06-24 19:10:57 +02:00 (CEST) Date last edited 2013-06-25 02:37:04 +02:00 (CEST)

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