Phenotype #0000174287

Individual ID 00233865
Associated disease FDH
Phenotype details coloboma iris and choroidea; patchy alopecia (HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), hyperpigmentation skin (HP:0000953), no fat herniation (-HP:0008441); syndactyly (HP:0001159); no 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); omphalocele (HP:0001539), no IUGR (-HP:0001511)
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 2010-09-16 12:12:18 +02:00 (CEST)

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