loading...| Preferred Name |
Wolf-Hirschhorn syndrome |
| 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 |
MeSH:C536740 UMLS:C1956097 MedDRA:10050361 OMIM:194190 ICD-10:Q93.3 ICD-11:LD44.41 MeSH:D054877 |
| label |
Wolf-Hirschhorn syndrome |
| notation |
ORPHA:280 |
| part_of |
http://www.orpha.net/ORDO/Orphanet_90642 http://www.orpha.net/ORDO/Orphanet_611327 http://www.orpha.net/ORDO/Orphanet_98642 http://www.orpha.net/ORDO/Orphanet_102283 http://www.orpha.net/ORDO/Orphanet_108979 http://www.orpha.net/ORDO/Orphanet_180779 |
| 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_90642 http://www.orpha.net/ORDO/Orphanet_611327 http://www.orpha.net/ORDO/Orphanet_98642 http://www.orpha.net/ORDO/Orphanet_102283 http://www.orpha.net/ORDO/Orphanet_108979 http://www.orpha.net/ORDO/Orphanet_180779 |
| subClassOf |