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.


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 ICD code is attributed by Orphanet).)
  • https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289494
  • 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 point prevalence range
  • http://www.orpha.net/ORDO/Orphanet_409981
  • ORPHA:289494
part of
  • http://www.orpha.net/ORDO/Orphanet_68356
present in
  • http://www.orpha.net/ORDO/Orphanet_409991

Term relations

Subclass of: