HOLOPROSENCEPHALY 3

HLP3

http://purl.bioontology.org/ontology/OMIM/142945

HLP3

HPE3

C1840529

7q36

HLP3

MCOPCB5

SMMCI

HPE3

SHH

http://purl.bioontology.org/ontology/OMIM/MTHU037359

http://purl.bioontology.org/ontology/OMIM/MTHU001174

http://purl.bioontology.org/ontology/OMIM/MTHU002029

http://purl.bioontology.org/ontology/OMIM/MTHU063297

http://purl.bioontology.org/ontology/OMIM/MTHU063295

http://purl.bioontology.org/ontology/OMIM/MTHU000259

http://purl.bioontology.org/ontology/OMIM/MTHU067194

http://purl.bioontology.org/ontology/OMIM/MTHU004501

http://purl.bioontology.org/ontology/OMIM/MTHU063290

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU001746

http://purl.bioontology.org/ontology/OMIM/MTHU004824

http://purl.bioontology.org/ontology/OMIM/MTHU005510

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

http://purl.bioontology.org/ontology/OMIM/MTHU000185

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

http://purl.bioontology.org/ontology/OMIM/MTHU013654

http://purl.bioontology.org/ontology/OMIM/MTHU063291

http://purl.bioontology.org/ontology/OMIM/MTHU014657

Phenotype description, molecular basis known.

142945

3

pound

HOLOPROSENCEPHALY 3

Caused by mutation in the sonic hedgehog signaling molecule (SHH, 600725.0001) [MOLECULAR BASIS]

Severe alobar form may result in death in infancy [MISCELLANEOUS]

Variable features may be present [MISCELLANEOUS]

Mild form may include microcephaly, hypotelorism, and single maxillary central incisor [MISCELLANEOUS]

T047