loading...| Preferred Name |
Lubs X-linked mental retardation syndrome |
| Synonyms |
Trisomy Xq28 |
| ID |
http://purl.bioontology.org/ontology/MESH/C537723 |
| altLabel |
Trisomy Xq28 MECP2 Duplication Syndrome Mental retardation, X-linked, Lubs type XLMR syndrome, Lubs type Mental Retardation, X-Linked, With Recurrent Respiratory Infections MRXSL |
| cui |
C1846058 C3714043 |
| HM |
D038901 |
| Inverse of RB |
0 |
| Mapped to | |
| MDA |
20100825 |
| MeSH Frequency |
81 |
| MMR |
20150818 |
| notation |
C537723 |
| prefLabel |
Lubs X-linked mental retardation syndrome |
| SC |
3 |
| Scope Statement |
An X-linked recessive neurodevelopmental disorder characterized by severe to profound intellectual disability, infantile HYPOTONIA, mild dysmorphic features, poor speech development, AUTISM - like features, SEIZURES, progressive SPASTICITY, and recurrent infections. Only males are affected, although female carriers may have some mild neuropsychiatric features, such as ANXIETY. Caused by copy number variations in the MECP2 gene. OMIM: 300260 |
| TERMUI |
T805111 T743538 T743540 T743539 T743537 T845988 T841976 |
| TH |
ORD (2010) OMIM (2013) GHR (2014) |
| tui |
T047 |