Coffin-Lowry Syndrome [Coffinův-Lowryho syndrom]
topical
- Terms
-
Coffin Syndrome
Mental Retardation with Osteocartilaginous Abnormalities
Persistent link
https://www.medvik.cz/link/D038921
Definition
A rare, X-linked INTELLECTUAL DISABILITY syndrome that results from mutations in the RIBOSOMAL PROTEIN S6 KINASE gene. Typical manifestations of the disease include an intelligence quotient of less than 50, facial anomalies, and other malformations.
- DUI
- D038921 MeSH Browser
- CUI
- M0417790
- Previous indexing
- Mental Retardation/genetics (1975-2002)
- History note
- 2003
- Public note
- 2003
Allowable subheadings
- BL
- blood 0
- CF
- cerebrospinal fluid 0
- CI
- chemically induced 0
- CL
- classification 0
- CO
- complications 0
- DI
- diagnosis 0
- DG
- diagnostic imaging 0
- DH
- diet therapy 0
- DT
- drug therapy 0
- EC
- economics 0
- EM
- embryology 0
- EN
- enzymology 0
- EP
- epidemiology 0
- EH
- ethnology 0
- ET
- etiology 0
- GE
- genetics 0
- HI
- history 0
- IM
- immunology 0
- ME
- metabolism 0
- MI
- microbiology 0
- MO
- mortality 0
- NU
- nursing 0
- PS
- parasitology 0
- PA
- pathology 0
- PP
- physiopathology 0
- PC
- prevention & control 0
- PX
- psychology 0
- RT
- radiotherapy 0
- RH
- rehabilitation 0
- SU
- surgery 0
- TH
- therapy 0
- UR
- urine 0
- VE
- veterinary 0
- VI
- virology 0
...
Occurrences in Medvik records
C
Diseases
C10.597.606.360.455.249
Coffin-Lowry Syndrome
C16.320.322.500.249
Coffin-Lowry Syndrome
C16.320.400.525.249
Coffin-Lowry Syndrome