Global Variome shared LOVD

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Phenotype #0000050414 Individual ID 00060277 Associated disease SCT Phenotype details see paper; ..., short stature; short trunk; thoracolumbar fusions; scoliosis; cervical fusion; short neck; sacral anomaly; carpal fusion; tarsal fusion; joint mobility limitation; no clinodactyly 5th; elbow, knee and shoulder pterygium; no single palmar crease; no hearing loss; high arched/cleft palate; inguinal hernia; facial dysmorphy; pterygium colli; respiratory failure Diagnosis/Initial multiple pterygium syndromes Inheritance Unknown Diagnosis/Definite - Age/Examination 06y (6 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Raphael Carapito Database submission license No license selected Created by Johan den Dunnen Date created 2016-04-16 15:46:08 +02:00 (CEST) Date last edited 2020-08-25 08:39:18 +02:00 (CEST)

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