Global Variome shared LOVD

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

Phenotype #0000157390 Individual ID 00208776 Associated disease CCTRCT Phenotype details congenital cataract congenital heart defects profound infantile onset neurological impairment growth retardation congenital hypotonia deafness microcephaly facial dysmorphism Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Ronen Spiegel Database submission license No license selected Created by Ronen Spiegel Date created 2018-12-15 17:04:37 +01:00 (CET) Date last edited 2018-12-18 09:03:58 +01:00 (CET)

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