ORPHA:85324
X-linked intellectual disability, Shrimpton type
Synonyms: MRXS9
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
An X-linked syndromic intellectual disability characterised by severe intellectual disability, microcephaly and short stature in male patients. Strabismus and spastic diplegia have also been described.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | X-linked intellectual disability, Shrimpton type | MRXS9 |
| fr | Déficience intellectuelle liée à l'X type Shrimpton | = en |
| de | Intelligenzminderung, X-chromosomale, Typ Shrimpton | = en |
| es | Discapacidad intelectual ligada al cromosoma X tipo Shrimpton | = en |
| it | Disabilità intellettiva legata all'X tipo Shrimpton | = en |
| nl | X-gebonden intellectuele achterstand, Shrimpton-type | = en |
| pt | Perturbação do desenvolvimento intelectual ligada ao X, tipo Shrimpton | = en |
| pl | Niepełnosprawność intelektualna typu Shrimpton sprzężona z chromosomem X | = en |
| cs | X-vázaná mentální retardace, Shrimptonův typ | = en |
| uk | Х-зчеплена розумова відсталість, тип Шрімптона | = en |
| zh | X连锁智力障碍，Shrimpton型 | = en |
| tr | X'e bağlı zihinsel yetersizlik, Shrimpton tipi | = en |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300709 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD90 | NTBT | attributed | validated |
| MONDO | 0010409 | E | validated | |
| MeSH | C567474 | E | validated | |
| UMLS | C2678039 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 10331611[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_10331611[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
5 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000348 | High forehead | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0000252 | Microcephaly | |
| HP:0004322 | Short stature | |
| HP:0000486 | Strabismus | |
Run the differential on the 5 obligate / very frequent terms
Annotation source: 10331611[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/85324
- This record as JSON: /data/d/85324.json