DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 28

EIEE28

http://purl.bioontology.org/ontology/OMIM/616211

EIEE28

DEE28

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28

C4015519

16q23.3-q24.1

WWOX

DEE28

FOR

SCAR12

http://purl.bioontology.org/ontology/OMIM/MTHU036360

http://purl.bioontology.org/ontology/OMIM/MTHU000140

http://purl.bioontology.org/ontology/OMIM/MTHU001204

http://purl.bioontology.org/ontology/OMIM/MTHU000709

http://purl.bioontology.org/ontology/OMIM/MTHU069938

http://purl.bioontology.org/ontology/OMIM/MTHU004041

http://purl.bioontology.org/ontology/OMIM/MTHU048100

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

http://purl.bioontology.org/ontology/OMIM/MTHU031984

http://purl.bioontology.org/ontology/OMIM/MTHU007830

http://purl.bioontology.org/ontology/OMIM/MTHU000300

http://purl.bioontology.org/ontology/OMIM/MTHU000301

http://purl.bioontology.org/ontology/OMIM/MTHU024399

http://purl.bioontology.org/ontology/OMIM/MTHU004856

http://purl.bioontology.org/ontology/OMIM/MTHU004589

http://purl.bioontology.org/ontology/OMIM/MTHU004222

http://purl.bioontology.org/ontology/OMIM/MTHU000199

Phenotype description, molecular basis known.

616211

3

pound

DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 28

Premature death may occur [MISCELLANEOUS]

Variable severity [MISCELLANEOUS]

Onset in first months of life [MISCELLANEOUS]

Caused by mutation in the WW domain-containing oxidoreductase gene (WWOX, 605131.0004) [MOLECULAR BASIS]

T047