ORPHA:83648
OBSOLETE: X-linked recessive intellectual disability-macrocephaly-ciliary dysfunction syndrome
inactive · referred to ORPHA:300496Multiple congenital anomalies-hypotonia-seizures syndrome type 2
- Type
- Disease
- Group
- Disorder
- Status
- inactive
- Flag
- Obsolete entity
This entity has been obsoleted from the Orphanet nomenclature of rare diseases.<br/><br/>Instead, consider using Multiple congenital anomalies-hypotonia-seizures syndrome type 2
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | OBSOLETE: X-linked recessive intellectual disability-macrocephaly-ciliary dysfunction syndrome | |
| fr | OBSOLETE : Syndrome de déficience intellectuelle récessive liée à l'X-macrocéphalie-dysfonction ciliaire | |
| de | OBSOLET: X-chromosomal-rezessive Intelligenzminderung-Makrozephalie-Ziliendysfunktion-Syndrom | |
| es | OBSOLETO: Síndrome de discapacidad intelectual recesiva ligada al cromosoma X-macrocefalia-disfunción ciliar | |
| it | OBSOLETO: Ritardo mentale recessivo legato all'X - macrocefalia - disfunzione ciliare | |
| nl | OBSOLEET: X-gebonden recessieve intellectuele achterstand - macrocefalie - ciliaire disfunctie-syndroom | |
| pt | OBSOLETO: Síndrome de perturbação do desenvolvimento intelectual ligada ao X recessiva-macrocefalia-disfunção ciliar | |
| pl | NIEAKTUALNE: Recesywna niepelnosprawnosc intelektualna sprzezona z chromosomem X - makrocefalia - dysfunkcja rzesek | |
| cs | NEAKTUÁLNÍ: X-vázaný recesivní syndrom zahrnující mentální retardaci, makrocefalii a ciliární dysfunkci | |
| uk | Х-зчеплений рецесивний синдром інтелектуальної недостатності-макроцефалії-циліарної дисфункції | |
| zh | 弃用：X连锁隐性智力障碍-大头畸形-纤毛功能障碍综合征 | |
| tr | Eski adı: X'e bağlı resesif zihinsel yetersizlik-makrosefali-siliyer disfonksiyon sendromu |
2
Cross-references
qualifier = Orphanet mapping relationNo cross-references in this release.
3
Classification
Not placed in any Orphanet classification in this release.
No children.
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/83648
- This record as JSON: /data/d/83648.json