Phenotype #0000359459

Individual ID	00465602
Associated disease	SEDKF
Diagnosis/Initial	spondyloepiphyseal dysplasia
Diagnosis/Definite	SEDKF)
Phenotype details	see paper; ..., 28wg-premature birth, weight 990g; 20y-height 113.5 cm, weight 26kg; pectus carinatum, protuberant abdomen, inguinal hernia, joint hypermobility, pes planus, cutis laxa, retromicrognathia; large ears, abnormal ears; cataract; craniosynostosis, no brachydactyly, genu valgo, valgus bowing tibia, hip dysplasia, kyphoscoliosis, osteopenia, spondyloepiphyseal dysplasia, no developmental delay, motor delay, no seizures
Inheritance	Familial, autosomal recessive
Age/Examination	20y (20 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license	No license selected
Created by	Johan den Dunnen
Date created	2026-03-20 09:35:56 +01:00 (CET)
Date last edited	2026-03-20 12:07:21 +01:00 (CET)

Global Variome shared LOVD