Global Variome shared LOVD

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Phenotype #0000278743 Individual ID 00384962 Associated disease ? Diagnosis/Initial femoral hypoplasia Diagnosis/Definite - Phenotype details bilateral femoral hypoplasia, bilateral pelvic hypoplasia, anarrow pelvis, normal psychomotor development; see paper ..., two pregnancies prenatal ultrasound fetuses revealed developmental abnormalities, short lower limbs Inheritance Familial, autosomal dominant 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 2021-10-05 19:05:00 +02:00 (CEST) Date last edited 2021-10-05 19:35:16 +02:00 (CEST)

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