NIJMEGEN BREAKAGE SYNDROME

MICROCEPHALY WITH NORMAL INTELLIGENCE, IMMUNODEFICIENCY, AND LYMPHORETICULAR MALIGNANCIES

http://purl.bioontology.org/ontology/OMIM/251260

MICROCEPHALY WITH NORMAL INTELLIGENCE, IMMUNODEFICIENCY, AND LYMPHORETICULAR MALIGNANCIES

BERLIN BREAKAGE SYNDROME

SEEMANOVA SYNDROME II

IMMUNODEFICIENCY, MICROCEPHALY, AND CHROMOSOMAL INSTABILITY

ATAXIA-TELANGIECTASIA VARIANT V2

ATAXIA-TELANGIECTASIA VARIANT V1

AT-V2

AT-V1

NONSYNDROMAL MICROCEPHALY, AUTOSOMAL RECESSIVE, WITH NORMAL INTELLIGENCE

BBS

NBS

C0398791

C1855057

8q21

NBS1

NBN

http://purl.bioontology.org/ontology/OMIM/MTHU011467

http://purl.bioontology.org/ontology/OMIM/MTHU011455

http://purl.bioontology.org/ontology/OMIM/MTHU011459

http://purl.bioontology.org/ontology/OMIM/MTHU011457

http://purl.bioontology.org/ontology/OMIM/MTHU037282

http://purl.bioontology.org/ontology/OMIM/MTHU042039

http://purl.bioontology.org/ontology/OMIM/MTHU011477

http://purl.bioontology.org/ontology/OMIM/MTHU008968

http://purl.bioontology.org/ontology/OMIM/MTHU011465

http://purl.bioontology.org/ontology/OMIM/MTHU011463

http://purl.bioontology.org/ontology/OMIM/MTHU011469

http://purl.bioontology.org/ontology/OMIM/MTHU001611

http://purl.bioontology.org/ontology/OMIM/MTHU011461

http://purl.bioontology.org/ontology/OMIM/MTHU011475

http://purl.bioontology.org/ontology/OMIM/MTHU005462

http://purl.bioontology.org/ontology/OMIM/MTHU007930

http://purl.bioontology.org/ontology/OMIM/MTHU036343

http://purl.bioontology.org/ontology/OMIM/MTHU004922

http://purl.bioontology.org/ontology/OMIM/MTHU007448

http://purl.bioontology.org/ontology/OMIM/MTHU005779

http://purl.bioontology.org/ontology/OMIM/MTHU000090

http://purl.bioontology.org/ontology/OMIM/MTHU037263

http://purl.bioontology.org/ontology/OMIM/MTHU011458

http://purl.bioontology.org/ontology/OMIM/MTHU005996

http://purl.bioontology.org/ontology/OMIM/MTHU036653

http://purl.bioontology.org/ontology/OMIM/MTHU000554

http://purl.bioontology.org/ontology/OMIM/MTHU006260

http://purl.bioontology.org/ontology/OMIM/MTHU042038

http://purl.bioontology.org/ontology/OMIM/MTHU007383

http://purl.bioontology.org/ontology/OMIM/MTHU011464

http://purl.bioontology.org/ontology/OMIM/MTHU011462

http://purl.bioontology.org/ontology/OMIM/MTHU011468

http://purl.bioontology.org/ontology/OMIM/MTHU011466

http://purl.bioontology.org/ontology/OMIM/MTHU011456

http://purl.bioontology.org/ontology/OMIM/MTHU011460

http://purl.bioontology.org/ontology/OMIM/MTHU011454

http://purl.bioontology.org/ontology/OMIM/MTHU004684

http://purl.bioontology.org/ontology/OMIM/MTHU011476

http://purl.bioontology.org/ontology/OMIM/MTHU000511

http://purl.bioontology.org/ontology/OMIM/MTHU011474

http://purl.bioontology.org/ontology/OMIM/MTHU008963

http://purl.bioontology.org/ontology/OMIM/MTHU011470

http://purl.bioontology.org/ontology/OMIM/MTHU000576

http://purl.bioontology.org/ontology/OMIM/MTHU001437

http://purl.bioontology.org/ontology/OMIM/MTHU007429

http://purl.bioontology.org/ontology/OMIM/MTHU028235

http://purl.bioontology.org/ontology/OMIM/MTHU036340

http://purl.bioontology.org/ontology/OMIM/MTHU002424

http://purl.bioontology.org/ontology/OMIM/MTHU003464

http://purl.bioontology.org/ontology/OMIM/MTHU010521

Phenotype description, molecular basis known.

600885

251260

3

pound

NIJMEGEN BREAKAGE SYNDROME

T047