Phenotype #0000199295

Individual ID 00260763
Associated disease TTD
Phenotype details see paper; ..., severe trichothiodystrophy, intrauterine growth restriction, progressive microcephaly, profound intellectual disability, genital anomalies (absent or rudimentary testes with microphallus), severe linear growth failure (normal growth hormone production): all 3 obligate carriers short stature
Diagnosis/Initial trichothiodystrophy
Inheritance Familial, X-linked
Diagnosis/Definite TTD-5
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2019-08-06 19:17:48 +02:00 (CEST)
Date last edited 2019-08-06 19:22:49 +02:00 (CEST)

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.