ORPHA:85285
X-linked intellectual disability, Schimke type
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare X-linked syndromic intellectual disability characterized by intellectual deficit, growth retardation with short stature, deafness and ophthalmoplegia. Choreoathetosis with muscle spasticity generally appears during childhood.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | X-linked intellectual disability, Schimke type | |
| fr | Déficience intellectuelle liée à l'X type Schimke | |
| de | Intelligenzminderung, X-chromosomale, Typ Schimke | |
| es | Discapacidad intelectual ligada al cromosoma X tipo Schimke | |
| it | Disabilità intellettiva legata all'X, tipo Schimke | |
| nl | X-gebonden intellectuele achterstand, Schimke-type | |
| pt | Perturbação do desenvolvimento intelectual ligada ao X, tipo Schimke | |
| pl | Niepełnosprawność intelektualna typu Schimke sprzężona z chromosomem X | |
| cs | X-vázaná mentální retardace, Schimkeho typ | |
| uk | Х-зчеплена розумова відсталість, тип Шимке | |
| zh | X连锁智力障碍，Schimke型 | |
| tr | X'e bağlı zihinsel yetersizlik, Schimke tipi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 312840 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD90 | NTBT | attributed | validated |
| MONDO | 0010729 | E | validated | |
| MeSH | C536630 | E | validated | |
| UMLS | C4305027 | E | validated | |
| GARD | 9288 | 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 | 4 cases | Worldwide | Case(s) | Validated | 6538752[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_6538752[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
26 annotations · validated 2019-08-08| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0001344 | Absent speech | |
| HP:0001266 | Choreoathetosis | |
| HP:0100660 | Dyskinesia | |
| HP:0000544 | External ophthalmoplegia | |
| HP:0001531 | Failure to thrive in infancy | |
| HP:0008947 | Floppy infant | |
| HP:0001263 | Global developmental delay | |
| HP:0000365 | Hearing impairment | |
| HP:0001249 | Intellectual disability | |
| HP:0002421 | Poor head control | |
| HP:0002033 | Poor suck | |
| HP:0005484 | Secondary microcephaly | |
| HP:0004322 | Short stature | |
| HP:0001257 | Spasticity | |
| Occasional (29-5%) | ||
| HP:0006466 | Ankle flexion contracture | |
| HP:0002120 | Cerebral cortical atrophy | |
| HP:0000490 | Deeply set eye | |
| HP:0002987 | Elbow flexion contracture | |
| HP:0011471 | Gastrostomy tube feeding in infancy | |
| HP:0000218 | High palate | |
| HP:0003273 | Hip contracture | |
| HP:0000126 | Hydronephrosis | |
| HP:0001347 | Hyperreflexia | |
| HP:0006380 | Knee flexion contracture | |
| HP:0000446 | Narrow nasal bridge | |
| HP:0000076 | Vesicoureteral reflux | |
Annotation source: 6538752[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/85285
- This record as JSON: /data/d/85285.json