Phenotype #0000174283

Individual ID 00233861
Associated disease FDH
Phenotype details clino-campodactyly R 5th finger, dental defects, strabismus, hypermetropia, asymmetric face, bulbous nasal tip, dorsal lymphedema of feet in infancy, single transverse crease on R palm; no patchy alopecia (-HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), hyperpigmentation skin (HP:0000953), fat herniation (HP:0008441), papilloma periorally (HP:0040167); no syndactyly (-HP:0001159); oligodontia (HP:0000677), no cleft lip/palate (-HP:0000202); thin protruding ear (HP:0000411); significantly decreased vision (HP:0000572), no microphthalmia (-HP:0000568), no coloboma (-HP:0000589), tear duct obstruction (HP:0000579); microcephaly (HP:0000252); heart defect (HP:0001627); mental retardation (HP:0001249); 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 2010-09-17 14:08:22 +02:00 (CEST)

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