CEREBELLAR HYPOPLASIA/ATROPHY, EPILEPSY, AND GLOBAL DEVELOPMENTAL DELAY

CHEGDD

http://purl.bioontology.org/ontology/OMIM/213000

CHEGDD

C5231391

8q23

OXR1

CHEGDD

http://purl.bioontology.org/ontology/OMIM/MTHU064176

http://purl.bioontology.org/ontology/OMIM/MTHU065267

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU007281

http://purl.bioontology.org/ontology/OMIM/MTHU065265

http://purl.bioontology.org/ontology/OMIM/MTHU061712

http://purl.bioontology.org/ontology/OMIM/MTHU030363

http://purl.bioontology.org/ontology/OMIM/MTHU019367

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU032062

http://purl.bioontology.org/ontology/OMIM/MTHU067542

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

http://purl.bioontology.org/ontology/OMIM/MTHU038981

http://purl.bioontology.org/ontology/OMIM/MTHU015980

http://purl.bioontology.org/ontology/OMIM/MTHU004645

Phenotype description, molecular basis known.

213000

3

pound

CEREBELLAR HYPOPLASIA/ATROPHY, EPILEPSY, AND GLOBAL DEVELOPMENTAL DELAY

Onset in infancy [MISCELLANEOUS]

Five patients from 3 unrelated families have been reported (last curated January 2020) [MISCELLANEOUS]

Caused by mutation in the oxidation resistance 1 gene (OXR1, 605609.0001) [MOLECULAR BASIS]

Seizure onset in childhood [MISCELLANEOUS]

T047