Phenotype #0000174279

Individual ID 00233857
Associated disease FDH
Phenotype details short stature, one abortion, due to limb defects, 5 spontaneous; no patchy alopecia (-HP:0002232), no nail dysplasia (-HP:0002164), skin hypoplasia (HP:0008065), no hyperpigmentation skin (-HP:0000953), no fat herniation (-HP:0008441); no syndactyly (-HP:0001159); no oligodontia (-HP:0000677), no cleft lip/palate (-HP:0000202); no microphthalmia (-HP:0000568), no coloboma (-HP:0000589); no microcephaly (-HP:0000252); no omphalocele (-HP:0001539), no IUGR (-HP:0001511)
Diagnosis/Initial Goltz-Gorlin syndrome
Inheritance Unknown
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