Phenotype #0000174322

Individual ID 00233900
Associated disease FDH
Phenotype details ala nasi coloboma; no patchy alopecia (-HP:0002232), no nail dysplasia (-HP:0002164), skin hypoplasia (HP:0008065), no papilloma periorally (-HP:0040167), no papilloma elsewhere (-HP:0012740); no syndactyly (-HP:0001159), no polydactyly (-HP:0010442), oligodactyly (HP:0012165), skeletal defects (HP:0011842); oligodontia (HP:0000677), enamel hypoplasia (HP:0006297), no cleft lip/palate (-HP:0000202); thin protruding ear (HP:0000411); no significantly decreased vision (-HP:0000572), no microphthalmia (-HP:0000568), coloboma (HP:0000589), no tear duct obstruction (-HP:0000579); occipitofrontal circumference not less than P3-P10 (-HP:0040195), no nipple hypoplasia in adults (-HP:0002557), mammary hypoplasia in adults (HP:0003187), no hypohidrosis (-HP:0000966), height less than P3-P10 (HP:0004322), no caudal appendage (-HP:0002825), acral abnormalities
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