loading...| Preferred Name |
Seckel syndrome |
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| Synonyms |
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| Definitions |
A rare form of microcephalic primordial dwarfism characterized by a proportionate dwarfism of prenatal onset, a severe microcephaly, a typical dysmorphic face (bird-like), and mild to severe intellectual disability. |
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| ID |
http://www.orpha.net/ORDO/Orphanet_808 |
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| definition |
A rare form of microcephalic primordial dwarfism characterized by a proportionate dwarfism of prenatal onset, a severe microcephaly, a typical dysmorphic face (bird-like), and mild to severe intellectual disability. |
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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=808 |
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| has_age_of_onset |
Antenatal |
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| has_inheritance |
Autosomal recessive |
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| hasDbXref |
ICD-10:Q87.1 OMIM:616777 OMIM:615807 OMIM:614728 OMIM:613823 OMIM:613676 MeSH:C537533 UMLS:C0265202 OMIM:614851 OMIM:210600 ICD-11:LD24.D OMIM:617523 OMIM:606744 |
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| label |
Seckel syndrome |
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| notation |
ORPHA:808 |
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| part_of | ||
| prefixIRI |
ORDO:Orphanet_808 |
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| prefLabel |
Seckel syndrome |
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| present_in |
Europe AND has_birth_prevalence_average_value : 0.2 AND has_birth_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : <1 / 1 000 000 Worldwide AND has_cases/families_value : 50.0 (Case) |
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| treeView | ||
| subClassOf |