A rare genetic neurodevelopmental disorder characterized by early-onset drug-resistant seizures and severe neurodevelopmental impairment with major motor development delay.
Synonyms:
CDD
This is just here as a test because I lose it
Term information
database
cross reference
- ICD-10:G40.4 (- NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet).)
- OMIM:300672 (E (Exact mapping: the two concepts are equivalent))
definition citation
- Orphanet
expertlink
- https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=505652
hasDbXref
- ICD-10:G40.4
- OMIM:300672
has age of onset
- http://www.orpha.net/ORDO/Orphanet_409945
- http://www.orpha.net/ORDO/Orphanet_409944
has birth prevalence average value
- 0.21
- 2.36
has birth prevalence range
- http://www.orpha.net/ORDO/Orphanet_409976
- http://www.orpha.net/ORDO/Orphanet_409977
has inheritance
- http://www.orpha.net/ORDO/Orphanet_409934
has point prevalence range
- http://www.orpha.net/ORDO/Orphanet_409981
notation
- ORPHA:505652
part of
- http://www.orpha.net/ORDO/Orphanet_166472
- http://www.orpha.net/ORDO/Orphanet_168778
- http://www.orpha.net/ORDO/Orphanet_611314
- http://www.orpha.net/ORDO/Orphanet_306765
present in
- http://www.orpha.net/ORDO/Orphanet_409991
- http://www.orpha.net/ORDO/Orphanet_409984
- http://www.orpha.net/ORDO/Orphanet_410006
- http://www.orpha.net/ORDO/Orphanet_410224
Term relations
Subclass of: