DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 2

DEE2

http://purl.bioontology.org/ontology/OMIM/300672

DEE2

EIEE2

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2

ISSX2

INFANTILE SPASM SYNDROME, X-LINKED 2

C4750718

Xp22

STK9

DEE2

ISSX

CDKL5

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

http://purl.bioontology.org/ontology/OMIM/MTHU041909

http://purl.bioontology.org/ontology/OMIM/MTHU002015

http://purl.bioontology.org/ontology/OMIM/MTHU001753

http://purl.bioontology.org/ontology/OMIM/MTHU001907

http://purl.bioontology.org/ontology/OMIM/MTHU002677

http://purl.bioontology.org/ontology/OMIM/MTHU036100

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

http://purl.bioontology.org/ontology/OMIM/MTHU042251

http://purl.bioontology.org/ontology/OMIM/MTHU009234

http://purl.bioontology.org/ontology/OMIM/MTHU001623

http://purl.bioontology.org/ontology/OMIM/MTHU003105

http://purl.bioontology.org/ontology/OMIM/MTHU021880

http://purl.bioontology.org/ontology/OMIM/MTHU011786

http://purl.bioontology.org/ontology/OMIM/MTHU025611

http://purl.bioontology.org/ontology/OMIM/MTHU002980

http://purl.bioontology.org/ontology/OMIM/MTHU025613

http://purl.bioontology.org/ontology/OMIM/MTHU000036

http://purl.bioontology.org/ontology/OMIM/MTHU000265

http://purl.bioontology.org/ontology/OMIM/MTHU000394

http://purl.bioontology.org/ontology/OMIM/MTHU008495

http://purl.bioontology.org/ontology/OMIM/MTHU021298

http://purl.bioontology.org/ontology/OMIM/MTHU036571

http://purl.bioontology.org/ontology/OMIM/MTHU036363

http://purl.bioontology.org/ontology/OMIM/MTHU006120

http://purl.bioontology.org/ontology/OMIM/MTHU021233

http://purl.bioontology.org/ontology/OMIM/MTHU002522

http://purl.bioontology.org/ontology/OMIM/MTHU030602

http://purl.bioontology.org/ontology/OMIM/MTHU042250

http://purl.bioontology.org/ontology/OMIM/MTHU007915

http://purl.bioontology.org/ontology/OMIM/MTHU001219

http://purl.bioontology.org/ontology/OMIM/MTHU007279

http://purl.bioontology.org/ontology/OMIM/MTHU000074

http://purl.bioontology.org/ontology/OMIM/MTHU025614

http://purl.bioontology.org/ontology/OMIM/MTHU025612

http://purl.bioontology.org/ontology/OMIM/MTHU013365

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

http://purl.bioontology.org/ontology/OMIM/MTHU025610

Phenotype description, molecular basis known.

300672

3

pound

DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 2

Some phenotypic overlap with Rett syndrome (312750) [MISCELLANEOUS]

Onset in infancy [MISCELLANEOUS]

Dysmorphic facial features are subtle [MISCELLANEOUS]

Seizures are usually refractory [MISCELLANEOUS]

Males are more severely affected [MISCELLANEOUS]

Females are most often affected, but rare male cases have been reported [MISCELLANEOUS]

Caused by mutation in the cyclin-dependent kinase-like 5 gene (CDKL5, 300203.0001) [MOLECULAR BASIS]

T047