TRANSCOBALAMIN II DEFICIENCY

TC II DEFICIENCY

http://purl.bioontology.org/ontology/OMIM/275350

TC II DEFICIENCY

TCN2 DEFICIENCY

C0342701

22q11.2-qter

TC2

TCN2

http://purl.bioontology.org/ontology/OMIM/MTHU009001

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

http://purl.bioontology.org/ontology/OMIM/MTHU000225

http://purl.bioontology.org/ontology/OMIM/MTHU036683

http://purl.bioontology.org/ontology/OMIM/MTHU000081

http://purl.bioontology.org/ontology/OMIM/MTHU032650

http://purl.bioontology.org/ontology/OMIM/MTHU008998

http://purl.bioontology.org/ontology/OMIM/MTHU008996

http://purl.bioontology.org/ontology/OMIM/MTHU036428

http://purl.bioontology.org/ontology/OMIM/MTHU008994

http://purl.bioontology.org/ontology/OMIM/MTHU024652

http://purl.bioontology.org/ontology/OMIM/MTHU008993

http://purl.bioontology.org/ontology/OMIM/MTHU009002

http://purl.bioontology.org/ontology/OMIM/MTHU037634

http://purl.bioontology.org/ontology/OMIM/MTHU009000

http://purl.bioontology.org/ontology/OMIM/MTHU000226

http://purl.bioontology.org/ontology/OMIM/MTHU000780

http://purl.bioontology.org/ontology/OMIM/MTHU008843

http://purl.bioontology.org/ontology/OMIM/MTHU008997

http://purl.bioontology.org/ontology/OMIM/MTHU036852

http://purl.bioontology.org/ontology/OMIM/MTHU008992

http://purl.bioontology.org/ontology/OMIM/MTHU008995

http://purl.bioontology.org/ontology/OMIM/MTHU008999

Phenotype description, molecular basis known.

275350

3

pound

TRANSCOBALAMIN II DEFICIENCY

Neurologic dysfunction is infrequent and associated with delayed diagnosis [MISCELLANEOUS]

Severe infections in untreated patients with neutropenia [MISCELLANEOUS]

Presentation at 3-6 weeks of age [MISCELLANEOUS]

Caused by mutation in the transcobalamin II gene (TCN2, 613441.0001) [MOLECULAR BASIS]

T047