Phenotype #0000174372

Individual ID 00233950
Associated disease FDH
Phenotype details vascular streaks along Blascko's lines, esophageal papillomas; no patchy alopecia (-HP:0002232), no skin hypoplasia (-HP:0008065), no hyperpigmentation skin (-HP:0000953), no fat herniation (-HP:0008441), papilloma elsewhere (HP:0012740); no syndactyly (-HP:0001159), scoliosis (HP:0002650), no polydactyly (-HP:0010442), no assymmetrical skeletal defects (-HP:0011842), no ectrodactyly (-HP:0100257), no oligodactyly (-HP:0012165); no 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), no tear duct obstruction (-HP:0000579); no microcephaly (-HP:0000252); no kidney malformation (-HP:0012210), no hydronephrosis (-HP:0000126), no heart defect (-HP:0001627), no displaced anus (-HP:0004397); no mental retardation (-HP:0001249); no osteopathia striata (-HP:001074), no omphalocele (-HP:0001539), occipitofrontal circumference not less than P3-P10 (-HP:0040195), no nipple hypoplasia in adults (-HP:0002557), no mammary hypoplasia in adults (-HP:0003187), no hypohidrosis (-HP:0000966), height not less than P3-P10 (-HP:0004322), no caudal appendage (-HP:0002825), no IUGR (-HP:0001511)
Diagnosis/Initial focal dermal hypoplasia
Inheritance Familial
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 2010-07-25 00:10:48 +02:00 (CEST)
Date last edited 2010-09-17 14:32:49 +02:00 (CEST)

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