about
syndromic X-linked intellectual disability Claes-Jensen typespastic paraplegia-severe developmental delay-epilepsy syndromeautosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndromeX-linked epilepsy-learning disabilities-behavior disorders syndromesevere neonatal-onset encephalopathy with microcephalyfamilial infantile myoclonic epilepsylethal neonatal spasticity-epileptic encephalopathy syndromeARX-related epileptic encephalopathychannelopathy with epilepsyfocal epilepsy-intellectual disability-cerebro-cerebellar malformationinfantile-onset mesial temporal lobe epilepsy with severe cognitive regressionX-linked intellectual disability-epilepsy syndrome
P279
Q28065613-4B662E0B-0281-4366-B22E-558F5BC9C864Q55345905-95C11D64-3C7F-4F7A-B7A2-9E72F67D5286Q55346047-5C0051FF-9F07-4A3E-BAF6-5E770B8E6611Q55782450-AA7927D6-A117-45AE-A69F-0D8D835DA990Q55782469-7716F89F-193F-4CB4-AFCD-064FA1656F88Q55783394-C4651E41-1871-4CE6-A9CE-B86D26FD6DB5Q55784338-684F7685-65AA-4C1A-9438-A4FA21E9A181Q55785815-4CC8FD46-9F70-47E7-9D12-E0666FD1EAA5Q55785816-6C043778-5991-4E40-942F-89070126173FQ55787754-55D2209C-BB98-439B-A2F1-0C2566F3DE9DQ55787950-12081210-08BE-4D68-9D46-09797927FAADQ56013799-bd574ec3-4cb7-1c97-054a-2bf4fff35dc0
P279
description
human disease
@en
name
monogenic disease with epilepsy
@en
type
label
monogenic disease with epilepsy
@en
prefLabel
monogenic disease with epilepsy
@en
P1550
P2888
P5270
MONDO:0015653