Phenotype #0000174356

Individual ID 00233934
Associated disease FDH
Phenotype details hypoplastic thumbs, bladder extrophy, horshoe kidney, no periauricular appendages; patchy alopecia (HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), hyperpigmentation skin (HP:0000953), fat herniation (HP:0008441); syndactyly (HP:0001159), polydactyly (HP:0010442), ectrodactyly (HP:0100257); oligodontia (HP:0000677), no cleft lip/palate (-HP:0000202); thin protruding ear (HP:0000411); no microphthalmia (-HP:0000568), no coloboma (-HP:0000589); microcephaly (HP:0000252); kidney malformation (HP:0012210), ND; mental retardation (HP:0001249); no omphalocele (-HP:0001539), height less than P3-P10 (HP:0004322), 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