Phenotype #0000174357

Individual ID 00233935
Associated disease FDH
Phenotype details telangiectasias; no patchy alopecia (-HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), hyperpigmentation skin (HP:0000953), no papilloma periorally (-HP:0040167), no papilloma elsewhere (-HP:0012740); no syndactyly (-HP:0001159), no polydactyly (-HP:0010442), no oligodactyly (-HP:0012165); oligodontia (HP:0000677), no enamel hypoplasia (-HP:0006297), cleft lip/palate (HP:0000202); thin protruding ear (HP:0000411); significantly decreased vision (HP:0000572), microphthalmia (HP:0000568), coloboma (HP:0000589), tear duct obstruction (HP:0000579); occipitofrontal circumference less than P3-P10 (HP:0040195), mammary hypoplasia in adults (HP:0003187), no hypohidrosis (-HP:0000966), height less than P3-P10 (HP:0004322), caudal appendage (HP:0002825), acral abnormalities
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
Date created 2010-03-18 15:03:45 +01:00 (CET)
Date last edited 2010-09-17 14:44:36 +02:00 (CEST)

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