Phenotype #0000347854

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00114694
Associated disease	SCKL
Diagnosis/Initial	Seckel syndrome
Diagnosis/Definite	MOPD2
Phenotype details	Sloping forehead, prominent nose, retrognathia. Normal skeletal xrays, though significantly retarded bone age. IQ 50. Normal MRI brain.
Inheritance	Familial, autosomal recessive
Age/Examination	03y (3 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license	No license selected
Created by	Johan den Dunnen
Date created	2025-01-18 12:28:45 +01:00 (CET)
Date last edited	N/A

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