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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