Phenotype #0000359465

Individual ID	00474671
Associated disease	skeletal dysplasia
Diagnosis/Initial	pondyloepiphyseal dysplasia
Diagnosis/Definite	SEDKF
Phenotype details	see paper; ..., birth at term; early motor development delay, 2y-sit, 3y-walk, speech delay, subnormal mentality; 10y-height 102cm, weight 16kg; pectus carinatum, protuberant abdomen, no inguinal hernia, no joint hypermobility; pes cavus; no cutaneous manifestations; retromicrognathia; large ears, abnormal ears; no cataract; no craniosynostosis; brachydactyly, genu valgo, valgus bowing tibia; hip dysplasia, kyphoscoliosis, osteopenia, spondyloepiphyseal dysplasia, developmental delay, no seizures
Inheritance	Familial, autosomal recessive
Age/Examination	10y (10 years)
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 13:33:59 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD