Global Variome shared LOVD

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Phenotype #0000174314 Individual ID 00233892 Associated disease FDH Phenotype details Pentalogy of Cantrell, absence lower sternum, ectopia cordis, multiple limb malformations, anophtalmia (bilateral), agenesis corpus callosum, colpocephaly, unil. hear loss, bifid nose; patchy alopecia (HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065); syndactyly (HP:0001159); , cleft lip/palate (HP:0000202); thin protruding ear (HP:0000411); significantly decreased vision (HP:0000572); no heart defect (-HP:0001627), displaced anus (HP:0004397); mental retardation (HP:0001249); omphalocele (HP:0001539), caudal appendage (HP:0002825), IUGR (HP:0001511) Diagnosis/Initial Goltz-Gorlin syndrome Inheritance Unknown 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 2012-07-12 12:59:42 +02:00 (CEST)

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