Phenotype #0000127235

Individual ID 00154499
Associated disease RTS2
Inheritance Familial, autosomal recessive
Diagnosis/Initial RTS
Age/Examination -
Diagnosis/Definite RTS
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Phenotype details Poikiloderma, growth delay, plantar hyperkeratosis, photosensitivity, sparse hair, eyelashes, eyebrows, onychodystrophy, dental defects, osteosclerosis and cystic-like lesions, diarrhea, food intolerance in infancy. Her younger brother died for osteosarcoma at 18y.
Protein -
Owner name Elisa Adele Colombo
Database submission license No license selected
Created by Elisa Adele Colombo
Date created 2018-03-01 11:40:02 +01:00 (CET)
Date last edited 2018-03-02 10:22:52 +01:00 (CET)

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.