Global Variome shared LOVD

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Phenotype #0000174428 Individual ID 00234006 Associated disease FDH Phenotype details basal cell carcinomas; skin hypoplasia (HP:0008065), hyperpigmentation skin (HP:0000953), fat herniation (HP:0008441), no papilloma periorally (-HP:0040167), papilloma elsewhere (HP:0012740); syndactyly (HP:0001159), no scoliosis (-HP:0002650), no polydactyly (-HP:0010442), assymmetrical skeletal defects (HP:0011842), no ectrodactyly (-HP:0100257), oligodactyly (HP:0012165); , no cleft lip/palate (-HP:0000202); no microphthalmia (-HP:0000568), ; osteopathia striata (HP:001074), no mammary hypoplasia in adults (-HP:0003187), height not less than P3-P10 (-HP:0004322), Diagnosis/Initial focal dermal hypoplasia 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 2012-12-12 14:14:57 +01:00 (CET) Date last edited 2013-01-02 14:23:57 +01:00 (CET)

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