loading...| Preferred Name |
Wolf-Hirschhorn syndrome |
|
| Synonyms |
Distal monosomy 4p |
|
| Definitions |
A developmental disorder characterized by typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor development, seizures, and hypotonia. |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_280 |
|
| alternative_term |
Distal monosomy 4p Distal deletion 4p 4p- syndrome Telomeric deletion 4p |
|
| definition |
A developmental disorder characterized by typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor development, seizures, and hypotonia. |
|
| definition_citation |
Orphanet |
|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280 |
|
| has_age_of_onset |
Antenatal Neonatal |
|
| has_inheritance |
Not applicable Multigenic/multifactorial |
|
| hasDbXref |
OMIM:194190 MedDRA:10050361 ICD-11:LD44.41 ICD-10:Q93.3 MeSH:D054877 UMLS:C1956097 |
|
| label |
Wolf-Hirschhorn syndrome |
|
| notation |
ORPHA:280 |
|
| part_of |
http://www.orpha.net/ORDO/Orphanet_180779 http://www.orpha.net/ORDO/Orphanet_90642 http://www.orpha.net/ORDO/Orphanet_98642 http://www.orpha.net/ORDO/Orphanet_261884 http://www.orpha.net/ORDO/Orphanet_166469 http://www.orpha.net/ORDO/Orphanet_611327 |
|
| prefixIRI |
ORDO:Orphanet_280 |
|
| prefLabel |
Wolf-Hirschhorn syndrome |
|
| present_in |
Europe AND has_point_prevalence_range : 1-9 / 100 000 Europe AND has_birth_prevalence_average_value : 2.0 AND has_birth_prevalence_range : 1-9 / 100 000 |
|
| treeView |
http://www.orpha.net/ORDO/Orphanet_180779 http://www.orpha.net/ORDO/Orphanet_90642 http://www.orpha.net/ORDO/Orphanet_98642 http://www.orpha.net/ORDO/Orphanet_261884 http://www.orpha.net/ORDO/Orphanet_166469 http://www.orpha.net/ORDO/Orphanet_611327 |
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| subClassOf |