Global Variome shared LOVD

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Phenotype #0000050413 Individual ID 00060276 Associated disease SCT Phenotype details see paper; ..., no short stature; no short trunk; no thoracolumbar fusions; no scoliosis; cervical fusion; short neck; no sacral anomaly; carpal fusion; tarsal fusion; joint mobility limitation; clinodactyly 5th; no elbow, knee and shoulder pterygium; single palmar crease; no hearing loss; high arched/cleft palate; no inguinal hernia; facial dysmorphy; pterygium colli; no respiratory failure Diagnosis/Initial multiple pterygium syndromes Inheritance Unknown Diagnosis/Definite - Age/Examination 36y (36 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 15:45:38 +02:00 (CEST) Date last edited 2020-08-25 08:38:26 +02:00 (CEST)

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