Global Variome shared LOVD

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

Phenotype #0000087174 Individual ID 00108617 Associated disease CED Phenotype details Craniosynostosis sagittal (HPO:000442), Craniosynostosis coronal (HPO:000440), Dolichocephaly (HPO: ), Nephronophthisis (HPO:000090), Sate 2 chronic kidney disease (HPO:0012624), short limbs (HPO:0009826), Narrow thorax (HPO:0000774), Brachydactyly (HPO:0001156), Abnormal teeth (HPO:0000164), Everted lower lip (HPO:0000233), Epicanthic folds (HPO:0000286) Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 01y (1 year) Age/Diagnosis 01y06m Age/Onset - Phenotype/Onset - Protein - Owner name Joanna Walczak-Sztulpa Database submission license No license selected Created by Joanna Walczak-Sztulpa Date created 2017-07-31 12:40:02 +02:00 (CEST) Date last edited N/A

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