X-linked intellectual disability-hypotonia-movement disorder syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- X-linked dominant
- Age of onset
- Adolescent, Childhood
- Status
- active
A rare, genetic, syndromic intellectual disability characterized by mild to severe intellectual disability associated with variable features, including hypotonia, dyskinesia, spasticity, wide-based gait, microcephaly, epilepsy and behavioral problems. MRI imaging may show a corpus callosum hypoplasia or ventricular enlargement. Other variable features, such as joint hyperlaxity, skin pigmentary abnormalities, and visual impairment, have also been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | X-linked intellectual disability-hypotonia-movement disorder syndrome | |
| fr | Syndrome de déficience intellectuelle liée à l'X-hypotonie-anomalie du mouvement | |
| de | X-chromosomale Intelligenzminderung-Hypotonie-Bewegungsstörungen-Syndrom | |
| es | Síndrome de discapacidad intelectual-hipotonía-trastorno del movimiento ligado al cromosoma X | |
| it | Sindrome disabilità intellettiva-ipotonia-disturbi del movimento, legata all'X | |
| nl | X-gebonden intellectuele achterstand - hypotonie - bewegingsstoornis-syndroom | |
| pt | Síndrome de défice intelectual hipotonia doença do movimento, ligada ao cromossoma X | |
| pl | Zespół niepełnosprawności intelektualnej, hipotonii i zaburzeń ruchu sprzężony z chromosomem X | |
| cs | Syndrom zahrnující X-vázanou mentální retardaci, hypotonii a poruchy hybnosti | |
| uk | Х-зчеплений синдром інтелектуальної недостатності-гіпотонії-рухових розладів | |
| zh | X连锁-智力障碍-肌张力低下-运动障碍综合征 | |
| tr | X'e bağlı zihinsel yetersizlik-hipotoni-hareket bozukluğu sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300958 | NTBT | validated | |
| ICD-10 | F78.8 | NTBT | attributed | not yet validated |
| ICD-11 | LD90 | NTBT | attributed | validated |
| MONDO | 0018709 | E | validated | |
| UMLS | C5681121 | E | validated | |
| GARD | 12715 | 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 (1):
- ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| DDX3X | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:2745 | ENSG00000215301 | 300160 | Xp11.4 | DEAD-box helicase 3 X-linked | 26235985[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 38 cases | Worldwide | Case(s) | Validated | 26235985[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26235985[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
23 annotations · validated 2018-07-11| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0001249 | Intellectual disability | |
| Frequent (79-30%) | ||
| HP:0000504 | Abnormality of vision | |
| HP:0000718 | Aggressive behavior | |
| HP:0000729 | Autistic behavior | |
| HP:0002136 | Broad-based gait | |
| HP:0100660 | Dyskinesia | |
| HP:0001290 | Generalized hypotonia | |
| HP:0000752 | Hyperactivity | |
| HP:0000252 | Microcephaly | |
| HP:0001257 | Spasticity | |
| Occasional (29-5%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0001000 | Abnormality of skin pigmentation | |
| HP:0002539 | Cortical dysplasia | |
| HP:0001263 | Global developmental delay | |
| HP:0000365 | Hearing impairment | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0001382 | Joint hypermobility | |
| HP:0000202 | Orofacial cleft | |
| HP:0000826 | Precocious puberty | |
| HP:0002650 | Scoliosis | |
| HP:0001250 | Seizure | |
| HP:0002119 | Ventriculomegaly | |
| HP:0000505 | Visual impairment | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 26235985[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/457260
- This record as JSON: /data/d/457260.json