LISSENCEPHALY, CLASSIC

SUBCORTICAL BAND HETEROTOPIA

LISSENCEPHALY SEQUENCE, ISOLATED

LIS1

SUBCORTICAL LAMINAR HETEROTOPIA

SBH

ILS

SCLH

http://purl.bioontology.org/ontology/OMIM/607432

LISSENCEPHALY, CLASSIC

SUBCORTICAL BAND HETEROTOPIA

LISSENCEPHALY SEQUENCE, ISOLATED

LIS1

SUBCORTICAL LAMINAR HETEROTOPIA

SBH

ILS

SCLH

C0431375

C1848201

17p13.3

LIS1

PAFAH1B1

http://purl.bioontology.org/ontology/OMIM/MTHU000269

http://purl.bioontology.org/ontology/OMIM/MTHU005726

http://purl.bioontology.org/ontology/OMIM/MTHU038215

http://purl.bioontology.org/ontology/OMIM/MTHU025315

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

http://purl.bioontology.org/ontology/OMIM/MTHU025317

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU024399

http://purl.bioontology.org/ontology/OMIM/MTHU001234

http://purl.bioontology.org/ontology/OMIM/MTHU003768

http://purl.bioontology.org/ontology/OMIM/MTHU019570

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

http://purl.bioontology.org/ontology/OMIM/MTHU025316

http://purl.bioontology.org/ontology/OMIM/MTHU001672

http://purl.bioontology.org/ontology/OMIM/MTHU025318

http://purl.bioontology.org/ontology/OMIM/MTHU021428

http://purl.bioontology.org/ontology/OMIM/MTHU004222

http://purl.bioontology.org/ontology/OMIM/MTHU001677

Phenotype description, molecular basis known.

607432

3

pound

LISSENCEPHALY 1

Caused by mutation in the platelet-activating factor acetylhydrolase, isoform 1B, alpha subunit gene (PAFAH1B1, 601545.0001) [MOLECULAR BASIS]

Variable severity [MISCELLANEOUS]

De novo mutation [MISCELLANEOUS]

T047