loading...| Preferred Name |
Dubowitz syndrome |
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| Synonyms |
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| Definitions |
Dubowitz syndrome (DS) is a rare multiple congenital syndrome characterized primarly by growth retardation, microcephaly, distinctive facial dysmorphism, cutaneous eczema, a mild to severe intellectual deficit and genital abnormalities. |
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| ID |
http://www.orpha.net/ORDO/Orphanet_235 |
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| definition |
Dubowitz syndrome (DS) is a rare multiple congenital syndrome characterized primarly by growth retardation, microcephaly, distinctive facial dysmorphism, cutaneous eczema, a mild to severe intellectual deficit and genital abnormalities. |
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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=235 |
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| has_age_of_onset |
Antenatal Neonatal |
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| has_inheritance |
Autosomal recessive |
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| hasDbXref |
ICD-10:Q87.1 UMLS:C0175691 MeSH:C535718 MedDRA:10059589 ICD-11:LD27.0Y OMIM:223370 |
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| label |
Dubowitz syndrome |
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| notation |
ORPHA:235 |
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| part_of |
http://www.orpha.net/ORDO/Orphanet_183570 http://www.orpha.net/ORDO/Orphanet_139021 http://www.orpha.net/ORDO/Orphanet_139393 http://www.orpha.net/ORDO/Orphanet_611327 http://www.orpha.net/ORDO/Orphanet_102283 |
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| prefixIRI |
ORDO:Orphanet_235 |
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| prefLabel |
Dubowitz 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 : Unknown |
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| treeView |
http://www.orpha.net/ORDO/Orphanet_183570 http://www.orpha.net/ORDO/Orphanet_139021 http://www.orpha.net/ORDO/Orphanet_139393 http://www.orpha.net/ORDO/Orphanet_611327 http://www.orpha.net/ORDO/Orphanet_102283 |
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| subClassOf |