Global Variome shared LOVD

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

Phenotype #0000174316 Individual ID 00233894 Associated disease FDH Phenotype details hexadactyly; patchy alopecia (HP:0002232), skin hypoplasia (HP:0008065); syndactyly (HP:0001159), assymmetrical skeletal defects (HP:0011842), oligodactyly (HP:0012165), skeletal defects (HP:0011842); microphthalmia (HP:0000568), coloboma (HP:0000589); microcephaly (HP:0000252); kidney malformation (HP:0012210); Diagnosis/Initial Goltz-Gorlin syndrome Inheritance Isolated (sporadic) 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 14:54:42 +02:00 (CEST)

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