loading...| Preferred Name |
Microform holoprosencephaly |
|
| Synonyms |
Holoprosencephaly-like HPE, minor form Microform HPE HPE-L Holoprosencephaly, minor form |
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| Definitions |
A benign form of holoprosencephaly characterized by midline defects without the typical HPE defect in brain cleavage and which can variably manifest with microcephaly, hypotelorism, midline cleft lip and/or flat nose, choanal stenosis, pyriform sinus stenosis, coloboma as well as a single median maxillary incisor. |
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| ID |
http://www.orpha.net/ORDO/Orphanet_280200 |
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| alternative_term |
Holoprosencephaly-like HPE, minor form Microform HPE HPE-L Holoprosencephaly, minor form |
|
| definition |
A benign form of holoprosencephaly characterized by midline defects without the typical HPE defect in brain cleavage and which can variably manifest with microcephaly, hypotelorism, midline cleft lip and/or flat nose, choanal stenosis, pyriform sinus stenosis, coloboma as well as a single median maxillary incisor. |
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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=280200 |
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| has_age_of_onset |
Childhood Infancy Neonatal |
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| has_inheritance |
Multigenic/multifactorial |
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| hasDbXref |
OMIM:609637 OMIM:147250 ICD-11:LA05.2 OMIM:610829 ICD-10:Q04.2 OMIM:157170 UMLS:C5393309 |
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| label |
Microform holoprosencephaly |
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| notation |
ORPHA:280200 |
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| part_of | ||
| prefixIRI |
ORDO:Orphanet_280200 |
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| prefLabel |
Microform holoprosencephaly |
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| present_in |
Europe AND has_point_prevalence_range : 1-9 / 100 000 |
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| treeView | ||
| subClassOf |