ORPHA:85277
X-linked intellectual disability, Cantagrel type
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare X-linked intellectual disability characterized by marked neonatal hypotonia, progressive quadriparesia, severely delayed developmental milestones (walking at 3 years of age), gastroesophageal reflux, stereotypic movements of the hands, esotropia and infantile autism.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | X-linked intellectual disability, Cantagrel type | |
| fr | Déficience intellectuelle liée à l'X type Cantagrel | |
| de | Intelligenzminderung, X-chromosomale, Typ Cantagrel | |
| es | Discapacidad intelectual ligada al cromosoma X tipo Cantagrel | |
| it | Disabilità intellettiva legata all'X, tipo Cantagrel | |
| nl | X-gebonden intellectuele achterstand, Cantagrel-type | |
| pt | Perturbação do desenvolvimento intelectual ligada ao X, tipo Cantagrel | |
| pl | Niepełnosprawność intelektualna typu Cantagrela sprzężona z chromosomem X | |
| cs | X-vázaná mentální retardace, Cantagrelův typ | |
| uk | Х-зчеплена розумова відсталість, тип Кантагрела | |
| zh | X连锁智力障碍，Cantagrel型 | |
| tr | X'e bağlı zihinsel yetersizlik, Cantagrel tipi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300912 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD90 | NTBT | attributed | validated |
| MONDO | 0010483 | E | validated | |
| UMLS | C4305023 | 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 (1):
- ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| NEXMIF | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:29433 | ENSG00000050030 | 300524 | Xq13.3 | neurite extension and migration factor | 23615299[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 30 cases | Worldwide | Case(s) | Validated | 27358180[PMID]_27568816[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_27358180[PMID]_27568816[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
18 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000733 | Abnormal repetitive mannerisms | |
| HP:0001344 | Absent speech | |
| HP:0000729 | Autistic behavior | |
| HP:0002120 | Cerebral cortical atrophy | |
| HP:0001249 | Intellectual disability | |
| HP:0001319 | Neonatal hypotonia | |
| HP:0011344 | Severe global developmental delay | |
| HP:0003196 | Short nose | |
| HP:0000322 | Short philtrum | |
| HP:0010804 | Tented upper lip vermilion | |
| HP:0002273 | Tetraparesis | |
| Frequent (79-30%) | ||
| HP:0003011 | Abnormality of the musculature | |
| HP:0000565 | Esotropia | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0001250 | Seizure | |
| HP:0000049 | Shawl scrotum | |
| HP:0002119 | Ventriculomegaly | |
Run the differential on the 11 obligate / very frequent terms
Annotation source: 15466006[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/85277
- This record as JSON: /data/d/85277.json