Phenotype #0000174295

Individual ID 00233873
Associated disease FDH
Phenotype details aniridia, R nipple absent, deformities of ribs; nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), fat herniation (HP:0008441); syndactyly (HP:0001159), ectrodactyly (HP:0100257); cleft lip/palate (HP:0000202); microphthalmia (HP:0000568); no 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 2010-03-29 10:13:54 +02:00 (CEST)

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