Phenotype #0000359468

Individual ID	00474674
Associated disease	skeletal dysplasia
Diagnosis/Initial	skeletal dysplasia
Diagnosis/Definite	SEDKF
Phenotype details	see paper; ..., birth at term; 4m-motor retardation, poor head-up, low muscular tension; 5.4y-height 99cm, weight 12.8kg; pectus carinatum, protuberant abdomen, no inguinal hernia; no joint hypermobility; normal feet; no cutaneous manifestations; retromicrognathia; large ears, abnormal ears; cataract; no craniosynostosis; no brachydactyly, no genu valgo, no valgus bowing tibia; no hip dysplasia, scoliosis, osteopenia, spondyloepiphyseal dysplasia, no developmental delay; motor delay; no seizures
Inheritance	Familial, autosomal recessive
Age/Examination	5.4y
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2026-03-20 13:58:13 +01:00 (CET)
Date last edited	2026-03-20 14:09:38 +01:00 (CET)

Global Variome shared LOVD