Global Variome shared LOVD

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

Phenotype #0000174309 Individual ID 00233887 Associated disease FDH Phenotype details midface hypoplasia; patchy alopecia (HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065); ectrodactyly (HP:0100257), skeletal defects (HP:0011842); oligodontia (HP:0000677), cleft lip/palate (HP:0000202); microphthalmia (HP:0000568), coloboma (HP:0000589); no mental retardation (-HP:0001249); occipitofrontal circumference less than P3-P10 (HP:0040195), height less than P3-P10 (HP:0004322) 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 2010-03-29 10:18:49 +02:00 (CEST)

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