DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 66

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 66

http://purl.bioontology.org/ontology/OMIM/618067

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 66

EIEE66

DEE66

C4748070

14q32.33

KIAA0602

PACS2

DEE66

http://purl.bioontology.org/ontology/OMIM/MTHU000691

http://purl.bioontology.org/ontology/OMIM/MTHU003763

http://purl.bioontology.org/ontology/OMIM/MTHU001686

http://purl.bioontology.org/ontology/OMIM/MTHU002606

http://purl.bioontology.org/ontology/OMIM/MTHU059641

http://purl.bioontology.org/ontology/OMIM/MTHU000579

http://purl.bioontology.org/ontology/OMIM/MTHU000235

http://purl.bioontology.org/ontology/OMIM/MTHU043125

http://purl.bioontology.org/ontology/OMIM/MTHU000253

http://purl.bioontology.org/ontology/OMIM/MTHU000389

http://purl.bioontology.org/ontology/OMIM/MTHU000583

http://purl.bioontology.org/ontology/OMIM/MTHU047747

http://purl.bioontology.org/ontology/OMIM/MTHU000749

http://purl.bioontology.org/ontology/OMIM/MTHU003860

http://purl.bioontology.org/ontology/OMIM/MTHU035437

http://purl.bioontology.org/ontology/OMIM/MTHU011134

http://purl.bioontology.org/ontology/OMIM/MTHU062269

http://purl.bioontology.org/ontology/OMIM/MTHU062270

http://purl.bioontology.org/ontology/OMIM/MTHU028611

http://purl.bioontology.org/ontology/OMIM/MTHU062271

http://purl.bioontology.org/ontology/OMIM/MTHU004559

http://purl.bioontology.org/ontology/OMIM/MTHU000848

http://purl.bioontology.org/ontology/OMIM/MTHU000066

http://purl.bioontology.org/ontology/OMIM/MTHU036450

http://purl.bioontology.org/ontology/OMIM/MTHU005818

http://purl.bioontology.org/ontology/OMIM/MTHU031865

http://purl.bioontology.org/ontology/OMIM/MTHU009863

http://purl.bioontology.org/ontology/OMIM/MTHU007485

http://purl.bioontology.org/ontology/OMIM/MTHU001853

http://purl.bioontology.org/ontology/OMIM/MTHU062268

http://purl.bioontology.org/ontology/OMIM/MTHU036427

http://purl.bioontology.org/ontology/OMIM/MTHU000263

http://purl.bioontology.org/ontology/OMIM/MTHU000197

Phenotype description, molecular basis known.

618067

3

pound

DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 66

De novo mutation [MISCELLANEOUS]

Onset of seizures in first days or weeks of life [MISCELLANEOUS]

Caused by mutation in the phosphofurin acidic cluster sorting protein 2 gene (PACS2, 610423.0001) [MOLECULAR BASIS]

Seizures may attenuate somewhat after the first year of life [MISCELLANEOUS]

Variable extraneurologic features [MISCELLANEOUS]

T047