Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000179398 Individual ID 00239176 Associated disease FDH Phenotype details R>L facial asymmetry, hypoplasic alae nasi, hyperpigmentation, fat deposit,skin atrophy, nail hypoplasia, R hand syndactyly, L foot ectrodactyly, long bone reduction, limb defects. Diagnosis/Initial FDH Inheritance Familial, X-linked dominant 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 2019-06-04 12:20:22 +02:00 (CEST) Date last edited N/A

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