loading...| Preferred Name |
Semilobar holoprosencephaly |
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| Synonyms |
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| Definitions |
A form of holoprosencephaly characterized by fusion of the left and right frontal and parietal lobes with only a posterior interhemispheric fissure. Craniofacial features variably include ocular hypotelorism, midline cleft lip (complete or partial) and a flat nose. |
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| ID |
http://www.orpha.net/ORDO/Orphanet_220386 |
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| definition |
A form of holoprosencephaly characterized by fusion of the left and right frontal and parietal lobes with only a posterior interhemispheric fissure. Craniofacial features variably include ocular hypotelorism, midline cleft lip (complete or partial) and a flat nose. |
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| definition_citation |
Orphanet |
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| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220386 |
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| has_age_of_onset |
Infancy Neonatal |
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| has_inheritance |
Not applicable Multigenic/multifactorial |
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| hasDbXref |
OMIM:609637 ICD-11:LA05.2 OMIM:610829 OMIM:301043 ICD-10:Q04.2 OMIM:157170 UMLS:C0751617 |
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| label |
Semilobar holoprosencephaly |
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| notation |
ORPHA:220386 Clinical subtype |
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| part_of | ||
| prefixIRI |
ORDO:Orphanet_220386 |
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| prefLabel |
Semilobar holoprosencephaly |
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| present_in |
Europe AND has_point_prevalence_range : 1-9 / 100 000 |
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| treeView | ||
| subClassOf |