Global Variome shared LOVD

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

Phenotype #0000174348 Individual ID 00233926 Associated disease FDH Phenotype details abdominal wall defect+bladder ectopia, single umbilical artery, lateral displacement of pubic bones; no patchy alopecia (-HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), no hyperpigmentation skin (-HP:0000953), fat herniation (HP:0008441); syndactyly (HP:0001159), ectrodactyly (HP:0100257), oligodactyly (HP:0012165); oligodontia (HP:0000677), no cleft lip/palate (-HP:0000202); thin protruding ear (HP:0000411); microphthalmia (HP:0000568), coloboma (HP:0000589); microcephaly (HP:0000252); no heart defect (-HP:0001627); mental retardation (HP:0001249); IUGR (HP:0001511) 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 14:40:56 +02:00 (CEST)

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