A rare hypomyelinating leukodystrophy disorder characterized by the association of dental abnormalities (delayed dentition, abnormal order of dentition, hypodontia), hypogonadotropic hypogonadism, and hypomyelinating leukodystrophy manifesting with neurodevelopmental delay or regression and/or progressive cerebellar symptoms.
Synonyms:
POLR-related leukodystrophy
This is just here as a test because I lose it
Term information
database
cross reference
- ICD-10:G93.8 (- NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD10 code is attributed by Orphanet).)
definition citation
- Orphanet
expertlink
- https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289494
hasDbXref
- ICD-10:G93.8
has age of onset
- http://www.orpha.net/ORDO/Orphanet_409948
- http://www.orpha.net/ORDO/Orphanet_409947
- http://www.orpha.net/ORDO/Orphanet_409946
- http://www.orpha.net/ORDO/Orphanet_409945
has cases/families value
- 200.0
has point prevalence range
- http://www.orpha.net/ORDO/Orphanet_409981
notation
- ORPHA:289494
part of
- http://www.orpha.net/ORDO/Orphanet_68356
present in
- http://www.orpha.net/ORDO/Orphanet_409991
Term relations
Subclass of: