Phenotype #0000174418

Individual ID	00233996
Associated disease	FDH
Phenotype details	bifid uvula; patchy alopecia (HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), hyperpigmentation skin (HP:0000953), fat herniation (HP:0008441), papilloma periorally (HP:0040167); syndactyly (HP:0001159), scoliosis (HP:0002650), no polydactyly (-HP:0010442), assymmetrical skeletal defects (HP:0011842), no ectrodactyly (-HP:0100257), oligodactyly (HP:0012165); oligodontia (HP:0000677), no enamel hypoplasia (-HP:0006297), no cleft lip/palate (-HP:0000202); no thin protruding ear (-HP:0000411); no significantly decreased vision (-HP:0000572), no microphthalmia (-HP:0000568), no coloboma (-HP:0000589), tear duct obstruction (HP:0000579); no kidney malformation (-HP:0012210), hydronephrosis (HP:0000126), no heart defect (-HP:0001627), no displaced anus (-HP:0004397); osteopathia striata (HP:001074), no omphalocele (-HP:0001539), occipitofrontal circumference less than P3-P10 (HP:0040195), mammary hypoplasia in adults (HP:0003187), no hypohidrosis (-HP:0000966), height not less than P3-P10 (-HP:0004322), no caudal appendage (-HP:0002825), no acral abnormalities, no IUGR (-HP:0001511)
Diagnosis/Initial	focal dermal hypoplasia
Inheritance	Isolated (sporadic)
Diagnosis/Definite	FDH
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Raoul Hennekam
Database submission license	No license selected
Created by	Maria Paola Lombardi
Date created	2012-07-16 14:48:22 +02:00 (CEST)
Date last edited	2012-07-31 22:57:48 +02:00 (CEST)