Phenotype #0000347882

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00460157
Associated disease	MOPD
Diagnosis/Initial	microcephalic osteodysplastic primordial dwarfism
Diagnosis/Definite	MOPD2
Phenotype details	see paper; ..., IUGR, microcephaly, prominent nose/nasal bridge, small pinnae, short stature, cone-shaped ivory-epiphyses, delayed bone age, slender long bones, abnormal pelvis; severe microdontia; skin anomalies
Inheritance	Familial, autosomal recessive
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2025-01-18 14:51:51 +01:00 (CET)
Date last edited	N/A

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