Phenotype #0000355045

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
Register as submitter | Log in

Individual ID	00469900
Associated disease	skeletal dysplasia
Diagnosis/Initial	short stature
Diagnosis/Definite	SEDCJD
Phenotype details	see paper; ..., short stature, height 76cm (SD-4.0); height 122cm (SD-4.6); facial dysmorphism; borderline cognitive impairment; <1y-recurrent pneumonia; short dental roots
Inheritance	Familial, autosomal recessive
Age/Examination	13y (13 years)
Age/Diagnosis	-
Age/Onset	2y2m
Phenotype/Onset	short stature
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2025-11-20 19:27:00 +01:00 (CET)
Date last edited	N/A

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.