Phenotype #0000174280

Individual ID 00233858
Associated disease FDH
Phenotype details hypoplastic R thumb, rudimentary preaxial polydactyly R, preauricular appendages, hypoplastic labia; no patchy alopecia (-HP:0002232), no nail dysplasia (-HP:0002164), skin hypoplasia (HP:0008065), hyperpigmentation skin (HP:0000953), no fat herniation (-HP:0008441); syndactyly (HP:0001159), polydactyly (HP:0010442); no oligodontia (-HP:0000677), cleft lip/palate (HP:0000202); thin protruding ear (HP:0000411); no microphthalmia (-HP:0000568), no coloboma (-HP:0000589); microcephaly (HP:0000252); heart defect (HP:0001627); no omphalocele (-HP:0001539), no IUGR (-HP:0001511)
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 2010-09-17 14:04:19 +02:00 (CEST)

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