Home Query References Browse Contact

2 patient data entries in database for clusters A467T and A467T in age group "infantile".

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupAge of onsetAge of patientAge of deathReference
289A467T2
A467T2
Developemental delay, status epilepticus onset, valproic acid therapy 2 weeks, epilepsia partialis continua, mtDNA depletion in liver
-status epilepticus
-epilepsia partialis
infantile
2.676n/aWolf et al, 2009;

[view data]

522A467T2
A467T2
Alpers, Encephalopathy, liver failure.
-liver failure
-encephalopathy
-Alpers syndrome
-developmental delay
-epilepsy
infantile
1n/an/aStewart et al, 2009;

[view data]

1-5 pathogenic cluster assignment of mutations. Mutations displayed without a superscript number are outside of the assigned pathogenic clusters. See cluster definitions for details.

Number of displayed patient cases: 2
Avg age of onset in displayed cases: 1.8
Std dev in onset in displayed cases: 0.8

Search criteria for patient entries:
Mutations Entry IDs Clusters Reference Residue range
Patients for cluster combinations:
First cluster: Second cluster:
Age group: Any Infantile Childhood Juvenile Adult
:.: Privacy Statement :.: Disclaimer :.: Contact Information :.: