Global Variome shared LOVD

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

Phenotype #0000254809 Individual ID 00359553 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details see paper; ..., born prematurely 35+1w; pregnancy polyhydramnios; 3w-feeding problems, diarrhoea, weight loss, mild muscular hypotonia; abdominal ultrasound distended intestinal loops; <1y-bilateral cataracts requiring lens replacement, delayed motor and language development required physical and speech therapy, planovalgus feet were treated with orthoses; no signs cystic fibrosis, no dystrophy Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2021-03-25 10:25:00 +01:00 (CET) Date last edited N/A

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