Phenotype #0000155618

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00207834
Associated disease	RFMN
Diagnosis/Initial	Roifman syndrome
Diagnosis/Definite	RFMN
Phenotype details	see paper; markedly long philtrum with thin upper lip, narrow, tubular and upturned nose with hypoplastic alae nasi, widely spaced eyes with long palpebral fissures, prominent lashes, ...
Inheritance	Familial, autosomal recessive
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2018-12-01 18:35:23 +01:00 (CET)
Date last edited	N/A

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