X-linked intellectual disability, Seemanova type
- Type
- Disease
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
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.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | X-linked intellectual disability, Seemanova type | |
| fr | Déficience intellectuelle liée à l'X type Seemanova | |
| de | Intelligenzminderung, X-chromosomale, Typ Seemanova | |
| es | Discapacidad intelectual ligada al cromosoma X tipo Seemanova | |
| it | Disabilità intellettiva legata all'X, tipo Seemanova | |
| nl | X-gebonden intellectuele achterstand, Seemanova-type | |
| pt | Perturbação do desenvolvimento intelectual ligada ao X, tipo Seemanova | |
| pl | Niepełnosprawność intelektualna typu Seemanova sprzężona z chromosomem X | |
| cs | X-vázaná mentální retardace, Seemanové typ | |
| uk | Х-зчеплена розумова відсталість, тип Сіманова | |
| zh | X连锁智力障碍，Seemanova型 | |
| tr | X'e bağlı zihinsel yetersizlik, Seemanova tipi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD20.2 | NTBT | index | validated |
| MONDO | 0019421 | E | validated | |
| UMLS | C4305088 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 cases | Worldwide | Case(s) | Validated | 8958326[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_8958326[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.
HPO phenotypes
16 annotations · validated 2019-08-09| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0000028 | Cryptorchidism | |
| HP:0000519 | Developmental cataract | |
| HP:0000286 | Epicanthus | |
| HP:0000316 | Hypertelorism | |
| HP:0000135 | Hypogonadism | |
| HP:0009004 | Hypoplasia of the musculature | |
| HP:0001249 | Intellectual disability | |
| HP:0000400 | Macrotia | |
| HP:0000252 | Microcephaly | |
| HP:0002191 | Progressive spasticity | |
| HP:0000278 | Retrognathia | |
| HP:0001250 | Seizure | |
| HP:0003202 | Skeletal muscle atrophy | |
| HP:0001518 | Small for gestational age | |
| Occasional (29-5%) | ||
| HP:0001627 | Abnormal heart morphology | |
| HP:0000218 | High palate | |
Annotation source: 8958326[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/85323
- This record as JSON: /data/d/85323.json