MILLER-DIEKER SYNDROME CHROMOSOME REGION

MDS

MDCR

MDLS

CHROMOSOME 17p13.3 DELETION SYNDROME

http://purl.bioontology.org/ontology/OMIM/247200

MILLER-DIEKER SYNDROME CHROMOSOME REGION

MDS

MDCR

MDLS

CHROMOSOME 17p13.3 DELETION SYNDROME

C1855481

C0265219

17p13.3

MDS

MDLS

DEL17p13.3

MDCR

C17DELp13.3

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

http://purl.bioontology.org/ontology/OMIM/MTHU000231

http://purl.bioontology.org/ontology/OMIM/MTHU005362

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

http://purl.bioontology.org/ontology/OMIM/MTHU011857

http://purl.bioontology.org/ontology/OMIM/MTHU036336

http://purl.bioontology.org/ontology/OMIM/MTHU011855

http://purl.bioontology.org/ontology/OMIM/MTHU003424

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

http://purl.bioontology.org/ontology/OMIM/MTHU011851

http://purl.bioontology.org/ontology/OMIM/MTHU005336

http://purl.bioontology.org/ontology/OMIM/MTHU004637

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

http://purl.bioontology.org/ontology/OMIM/MTHU011843

http://purl.bioontology.org/ontology/OMIM/MTHU037675

http://purl.bioontology.org/ontology/OMIM/MTHU011852

http://purl.bioontology.org/ontology/OMIM/MTHU011849

http://purl.bioontology.org/ontology/OMIM/MTHU005299

http://purl.bioontology.org/ontology/OMIM/MTHU005345

http://purl.bioontology.org/ontology/OMIM/MTHU002599

http://purl.bioontology.org/ontology/OMIM/MTHU036357

http://purl.bioontology.org/ontology/OMIM/MTHU011845

http://purl.bioontology.org/ontology/OMIM/MTHU000560

http://purl.bioontology.org/ontology/OMIM/MTHU011853

http://purl.bioontology.org/ontology/OMIM/MTHU011859

http://purl.bioontology.org/ontology/OMIM/MTHU011848

http://purl.bioontology.org/ontology/OMIM/MTHU011847

http://purl.bioontology.org/ontology/OMIM/MTHU009012

http://purl.bioontology.org/ontology/OMIM/MTHU011858

http://purl.bioontology.org/ontology/OMIM/MTHU010488

http://purl.bioontology.org/ontology/OMIM/MTHU011850

http://purl.bioontology.org/ontology/OMIM/MTHU001305

http://purl.bioontology.org/ontology/OMIM/MTHU036439

http://purl.bioontology.org/ontology/OMIM/MTHU000133

http://purl.bioontology.org/ontology/OMIM/MTHU036366

http://purl.bioontology.org/ontology/OMIM/MTHU011844

http://purl.bioontology.org/ontology/OMIM/MTHU011860

http://purl.bioontology.org/ontology/OMIM/MTHU011846

http://purl.bioontology.org/ontology/OMIM/MTHU000066

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

http://purl.bioontology.org/ontology/OMIM/MTHU000264

http://purl.bioontology.org/ontology/OMIM/MTHU011861

http://purl.bioontology.org/ontology/OMIM/MTHU000189

http://purl.bioontology.org/ontology/OMIM/MTHU007674

http://purl.bioontology.org/ontology/OMIM/MTHU008119

http://purl.bioontology.org/ontology/OMIM/MTHU011854

http://purl.bioontology.org/ontology/OMIM/MTHU000242

http://purl.bioontology.org/ontology/OMIM/MTHU008662

Phenotype description, molecular basis known.

247200

3

pound

MILLER-DIEKER LISSENCEPHALY SYNDROME

Contiguous gene syndrome [MISCELLANEOUS]

Death often before age 2 [MISCELLANEOUS]

A contiguous gene syndrome caused by deletion of the lissencephaly 1 gene (LIS1, 601545) and the tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon isoform gene (YWHAE, 605066) [MOLECULAR BASIS]

T047

T033