Global Variome shared LOVD

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Phenotype #0000326308 Individual ID 00436124 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details see paper; ..., nine ribs, bilaterally, multiple proximal fusions, lower 3 pairs of ribs; multiple segmentation errors of the vertebral, thoracic and lumbar spine; hypoplastic sacrum; Tetralogy of Fallot (absent pulmonary valve), abnormal fusion of right posterior semicircular canal; absent left kidney; upper and lower limbs appear short; prominent pterygia at shoulders, elbows, and wrists; clenched hands with overlapping fingers, mild brachymelia; craniofacial dysmorphism (squared facial profile, short neck with webbing; low anterior hairline, prominent brow; nose broad and flat with anteverted nares; posteriorly angled ears; microretrognathia; ankloglossia), excess wrinkled skin; hypoplastic right lung; small stomach; polyhydramnios (tracheoesophageal fistula) 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 2023-08-11 14:28:01 +02:00 (CEST) Date last edited N/A

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