Phenotype #0000174359

Individual ID 00233937
Associated disease FDH
Phenotype details unilateral agenesis kidney,ectopia cordis, ala nasi coloboma, VSD, diaphr abnor, abdom wall defects, supracerebellar cyst; nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065); no polydactyly (-HP:0010442), oligodactyly (HP:0012165); cleft lip/palate (HP:0000202); microphthalmia (HP:0000568); occipitofrontal circumference less than P3-P10 (HP:0040195), height less than P3-P10 (HP:0004322), no caudal appendage (-HP:0002825), acral abnormalities
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 2010-03-24 13:33:04 +01:00 (CET)

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