Phenotype #0000174333

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00233911
Associated disease	FDH
Phenotype details	skin hypoplasia (HP:0008065), papilloma elsewhere (HP:0012740); ectrodactyly (HP:0100257); microphthalmia (HP:0000568), coloboma (HP:0000589); mental retardation (HP:0001249);
Diagnosis/Initial	Goltz-Gorlin syndrome
Inheritance	Familial
Diagnosis/Definite	FDH
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Maria Paola Lombardi
Database submission license	No license selected
Created by	Maria Paola Lombardi
Date created	2010-03-18 15:03:45 +01:00 (CET)
Date last edited	2010-09-17 14:53:24 +02:00 (CEST)

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