Phenotype #0000179399

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00239177
Associated disease	FDH
Phenotype details	Hypoplasic alae nasi, hyperpigmentation,skin atrophy, nail hypoplasia, L foot ectrodactyly, L foot syndactyly, long bone reduction, limb defects
Diagnosis/Initial	FDH
Inheritance	Familial, X-linked dominant
Diagnosis/Definite	FDH
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	FDH
Protein	FDH
Owner name	Maria Paola Lombardi
Database submission license	No license selected
Created by	Maria Paola Lombardi
Date created	2019-06-04 12:36:58 +02:00 (CEST)
Date last edited	N/A

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