Phenotype #0000017704

Individual ID 00019941
Associated disease NF1
Phenotype details CafĂ©-au-lait spots, freckling, pectus excavatum, scapular winging, scoliosis, ptosis, triangular face, close palate, low set posteriorly rotated ears, mild joint laxity, skin hyperelasticity, easy extensibility of the ears, flat feet, celiac disease, narrowing of the peripheral nasal visual field
Diagnosis/Initial -
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Age/Examination 16y (16 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Alessandro De Luca
Database submission license Creative Commons Attribution-NonCommercial 4.0 InternationalCreative Commons License
Created by Alessandro De Luca
Date created 2014-09-19 15:18:51 +02:00 (CEST)
Date last edited 2014-09-21 12:36:33 +02:00 (CEST)

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