Global Variome shared LOVD

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Phenotype #0000050411 Individual ID 00060275 Associated disease SCT Phenotype details see paper; ..., short stature; short trunk; thoracolumbar fusions; scoliosis; no cervical fusion; short neck; sacral anomaly; joint mobility limitation; clinodactyly 5th; no elbow, knee and shoulder pterygium; no single palmar crease; hearing loss; high arched/cleft palate; inguinal hernia; facial dysmorphy; no pterygium colli; no respiratory failure Diagnosis/Initial spondylocarpotarsal synostosis syndrome Inheritance Unknown Diagnosis/Definite - Age/Examination 16y (16 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 15:41:38 +02:00 (CEST) Date last edited 2020-08-25 08:39:43 +02:00 (CEST)

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