Disease #00438

Official abbreviation HPE
Name holoprosencephaly (HPE)
OMIM ID 236100
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 6
Phenotype entries for this disease 6
Associated with 5 genes GLI2, SHH, SIX3, TGIF1, ZIC2
Associated tissues -
Disease features -
Remarks -


Individuals

6 entries on 1 page. Showing entries 1 - 6.
Legend  

AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age/Death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Genes screened

Variants in genes

Variants     

Panel size     

Owner     
00056272 - PubMed: Ming 2002, Journal: Ming 2002 affected girl and clincally unaffected carrier father F - United States - - 0 - - HPE bilateral cleft lip/palate (HP:0002744), semilobar holoprosencephaly (HP:0002507), hypopituitarism (HP:0040075), absent anterior and partly absent posterior interhemispheric fissure, continuity frontal lobe, continuous gyri across midline, midline ventricle with single frontal horn but partial separation posterior horns, partial separation parietal/occipital lobes PTCH1 PTCH1 1 2 Johan den Dunnen
00056275 - PubMed: Ming 2002, Journal: Ming 2002 2-generation family, 2 affected bothers, clinically unaffected carrier father, healthy non-carreir mother/sister M - United States - - 0 - - HPE alobar holoprosencephaly (HP:0006988), hypotelorism (HP:0000601), upward slanting palpebral fissures (HP:0000582) PTCH1 PTCH1 1 3 Johan den Dunnen
00056311 - PubMed: Ming 2002, Journal: Ming 2002 2-generation family, affected sister and brother (mother not carrier, father untested) F - United States - - 0 - - HPE semilobar holoprosencephaly (HP:0002507), absent corpus callosum (HP:0001274), fused thalami (HP:0010664) PTCH1 PTCH1 1 2 Johan den Dunnen
00056312 - PubMed: Ming 2002, Journal: Ming 2002 bother Pat1335 M - United States - - 0 - - HPE single central maxillary incisor, bilateral cleft lip/palate (HP:0002744), developmental delay (HP:0001263) PTCH1 PTCH1 1 1 Johan den Dunnen
00056313 - PubMed: Ming 2002, Journal: Ming 2002 2-generation family, affected girl, normal mother (no carrier), father untested F - United States - - 0 - - HPE holoprosencephaly (HP:0002507), partial agenesis corpus callosum (HP:0001338), panhypopituitarism (HP:0000871), midline cleft lip/palate (HP:0008501), small omphalocele (HP:0001539), mild/moderate developmental delay (HP:0011342) PTCH1 PTCH1 2 1 Johan den Dunnen
00056315 - PubMed: Ming 2002, Journal: Ming 2002 2-generation family, affected girl and clincally unaffected carrier mother F - United States - - 0 - - HPE holoprosencephaly (HP:0002507), seizures (HP:0001250), bilateral cleft lip (HP:0100336) PTCH1 PTCH1 1 2 Johan den Dunnen
Legend