Phenotype #0000354952

Individual ID	00469807
Associated disease	skeletal dysplasia
Diagnosis/Initial	skeletal dysplasia
Diagnosis/Definite	SEMDSP
Phenotype details	see paper; ..., birth short limbs, short trunk; short stature, height 119cm (SD-7); height 119cm (SD-7); facial dysmorphism (coarse facial features, maxillary hypoplasia, flat nasal bridge, anteverted nares, bulbous nose); no cognitive impairment; thickening skull, brachymetacarpy, vertebral deformities, epiphyseal/metaphyseal abnormalities
Inheritance	Familial, autosomal recessive
Age/Examination	14y (14 years)
Age/Diagnosis	-
Age/Onset	14y
Phenotype/Onset	short stature
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2025-11-20 12:33:13 +01:00 (CET)
Date last edited	2025-11-20 18:43:08 +01:00 (CET)

Global Variome shared LOVD