Phenotype #0000326296

Individual ID	00436112
Associated disease	SEMD
Phenotype details	see paper; ..., fetal ultrasound hydronephrosis, birth at term; weight 24kg (-5 SD), length 112cm (-8 SD); spine anomaly; epiphyseal anomaly; syndactyly; brachydactyly/clinodactyly/camptodactyly; no cardiac anomaly; hydronephrosis; no intellectual disability/developmental delay
Diagnosis/Initial	spondyloepimetaphyseal dysplasia
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	28y (28 years)
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2023-08-10 22:14:44 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD