Phenotype #0000174289

Individual ID	00233867
Associated disease	FDH
Phenotype details	hyperhidrosis, bicuspid aortic valve, renal reflux ; patchy alopecia (HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), papilloma periorally (HP:0040167), no papilloma elsewhere (-HP:0012740); syndactyly (HP:0001159), polydactyly (HP:0010442); oligodontia (HP:0000677), enamel hypoplasia (HP:0006297), cleft lip/palate (HP:0000202); thin protruding ear (HP:0000411); significantly decreased vision (HP:0000572), no microphthalmia (-HP:0000568), no coloboma (-HP:0000589), no tear duct obstruction (-HP:0000579); microcephaly (HP:0000252); heart defect (HP:0001627), displaced anus (HP:0004397); no nipple hypoplasia in adults (-HP:0002557), no mammary hypoplasia in adults (-HP:0003187), caudal appendage (HP:0002825), acral abnormalities, occipitofrontal circumference less than P3-P10 (HP:0040195), height less than P3-P10 (HP:0004322)
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 14:11:26 +02:00 (CEST)

Global Variome shared LOVD