loading...| Preferred Name |
X-linked intellectual disability, Seemanova type |
| Definitions |
X-linked intellectual disability, Seemanova type is characterised by microcephaly, intellectual deficit, growth retardation and hypogenitalism. It has been described in four boys from one family. A characteristic facies and ophthalmologic anomalies were also present and included microphthalmia, microcornea and cataract. Transmission is X-linked. |
| ID |
http://purl.obolibrary.org/obo/MONDO_0019421 |
| database_cross_reference |
Orphanet:85323 UMLS:CN227630 SCTID:718897009 |
| definition |
X-linked intellectual disability, Seemanova type is characterised by microcephaly, intellectual deficit, growth retardation and hypogenitalism. It has been described in four boys from one family. A characteristic facies and ophthalmologic anomalies were also present and included microphthalmia, microcornea and cataract. Transmission is X-linked. |
| exactMatch |
http://linkedlifedata.com/resource/umls/id/CN227630 |
| IAO_0000233 | |
| id |
MONDO:0019421 |
| in_subset | |
| label |
X-linked intellectual disability, Seemanova type |
| notation |
MONDO:0019421 |
| prefLabel |
X-linked intellectual disability, Seemanova type |
| treeView | |
| subClassOf |