loading...| Preferred Name |
Muenke syndrome |
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| Synonyms |
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| Definitions |
Muenke syndrome is a syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis, midfacial retrusion, strabismus, hearing loss and developmental delay. |
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| ID |
http://www.orpha.net/ORDO/Orphanet_53271 |
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| definition |
Muenke syndrome is a syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis, midfacial retrusion, strabismus, hearing loss and developmental delay. |
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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=53271 |
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| has_age_of_onset |
Antenatal Neonatal |
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| has_inheritance |
Autosomal dominant |
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| hasDbXref |
OMIM:602849 ICD-10:Q87.0 UMLS:C1864436 MeSH:C537369 MedDRA:10088781 ICD-11:LD24.GY |
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| label |
Muenke syndrome |
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| notation |
ORPHA:53271 |
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| part_of |
http://www.orpha.net/ORDO/Orphanet_139393 |
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| prefixIRI |
ORDO:Orphanet_53271 |
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| prefLabel |
Muenke syndrome |
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| present_in |
Worldwide AND has_birth_prevalence_average_value : 3.33 AND has_birth_prevalence_range : 1-9 / 100 000 Australia AND has_birth_prevalence_average_value : 2.3 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown |
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| treeView |
http://www.orpha.net/ORDO/Orphanet_139393 |
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| subClassOf |