ORPHA:163956
X-linked intellectual disability, Nascimento type
Synonyms: X-linked intellectual disability-nail dystrophy-seizures syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Infancy
- Status
- active
X-linked intellectual disability, Nascimento type is a rare X-linked intellectual disability syndrome characterized by intellectual disability (with severe speech impairment), a myxedematous appearance, dysmorphic facial features (including large head, synophrys, prominent supraorbital ridges, almond-shaped and deep-set eyes, large ears, wide mouth with everted lower lip and downturned lip corners), low posterior hairline, short, broad neck, marked general hirsutism and abnormal hair whorls, skin changes (e.g. dry skin or hypopigmented spots), widely spaced nipples, obesity, micropenis, onychodystrophy and seizures.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | X-linked intellectual disability, Nascimento type | X-linked intellectual disability-nail dystrophy-seizures syndrome |
| fr | Déficience intellectuelle liée à l'X type Nascimento | Syndrome de déficience intellectuelle liée à l'X-dystrophie des ongles-épilepsie |
| de | Intelligenzminderung, X-chromosomale, Typ Nascimento | X-chromosomale Intelligenzminderung-Nageldystrophie-Krämpfe-Syndrom |
| es | Discapacidad intelectual ligada al cromosoma X tipo Nascimento | Síndrome de discapacidad intelectual-distrofia ungueal-crisis ligado al cromosoma X |
| it | Disabilità intellettiva legata all'X, tipo Nascimento | Sindrome disabilità intellettiva-distrofia ungueale-crisi epilettiche legata all'X |
| nl | X-gebonden intellectuele achterstand, Nascimento-type | X-gebonden intellectuele achterstand - nageldystrofie - epileptische aanvallen-syndroom |
| pt | Perturbação do desenvolvimento intelectual ligada ao X, tipo Nascimento | Perturbação do desenvolvimento intelectual ligada ao X-distrofia das unhas-convulsões |
| pl | Niepełnosprawność intelektualna sprzężona z chromosomem X, typ Nascimento | Niepełnosprawność intelektualna sprzężona z chromosomem X - dystrofia paznokci - napady padaczkowe |
| cs | X-vázaná mentální retardace, Nascimentové typ | Syndrom zahrnující X-vázanou mentální retardaci, dystrofii nehtů a záchvaty |
| uk | Х-зчеплена розумова відсталість, тип Насіменто | Х-зчеплений синдром розумової відсталості-нігтьової дистрофії-судом |
| zh | Nascimento 型X连锁型智力障碍综合征 | X连锁智力障碍-指甲营养不良-癫痫综合征 |
| tr | X'e bağlı zihinsel yetersizlik, Nascimento tipi | X'e bağlı zihinsel yetersizlik-tırnak distrofisi-nöbetler sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300860 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD90 | NTBT | attributed | validated |
| MONDO | 0010461 | E | validated | |
| UMLS | C4512071 | 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
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| UBE2A | Disease-causing germline mutation(s) in | Assessed | HGNC:12472 | ENSG00000077721 | 312180 | Xq24 | ubiquitin conjugating enzyme E2 A | 16909393[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 8 cases | Worldwide | Case(s) | Validated | 20412111[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_20412111[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
64 annotations · validated 2019-08-12| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002194 | Delayed gross motor development | |
| HP:0000958 | Dry skin | |
| HP:0009765 | Low hanging columella | |
| HP:0002465 | Poor speech | |
| HP:0000154 | Wide mouth | |
| Frequent (79-30%) | ||
| HP:0002500 | Abnormal cerebral white matter morphology | |
| HP:0000718 | Aggressive behavior | |
| HP:0000475 | Broad neck | |
| HP:0012450 | Chronic constipation | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0002714 | Downturned corners of mouth | |
| HP:0010529 | Echolalia | |
| HP:0002230 | Generalized hirsutism | |
| HP:0000316 | Hypertelorism | |
| HP:0007103 | Hypointensity of cerebral white matter on MRI | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0002162 | Low posterior hairline | |
| HP:0000256 | Macrocephaly | |
| HP:0000054 | Micropenis | |
| HP:0003265 | Neonatal hyperbilirubinemia | |
| HP:0001761 | Pes cavus | |
| HP:0001250 | Seizure | |
| HP:0001773 | Short foot | |
| HP:0000664 | Synophrys | |
| HP:0000233 | Thin vermilion border | |
| HP:0000582 | Upslanted palpebral fissure | |
| HP:0001629 | Ventricular septal defect | |
| HP:0000076 | Vesicoureteral reflux | |
| HP:0006610 | Wide intermamillary distance | |
| Occasional (29-5%) | ||
| HP:0010721 | Abnormal hair whorl | |
| HP:0005345 | Abnormal vena cava morphology | |
| HP:0001776 | Bilateral talipes equinovarus | |
| HP:0100760 | Clubbing of toes | |
| HP:0000722 | Compulsive behaviors | |
| HP:0000028 | Cryptorchidism | |
| HP:0001875 | Decreased total neutrophil count | |
| HP:0002002 | Deep philtrum | |
| HP:0000519 | Developmental cataract | |
| HP:0001719 | Double outlet right ventricle | |
| HP:0000365 | Hearing impairment | |
| HP:0000348 | High forehead | |
| HP:0012110 | Hypoplasia of the pons | |
| HP:0000047 | Hypospadias | |
| HP:0002342 | Intellectual disability, moderate | |
| HP:0030311 | Lower extremity joint dislocation | |
| HP:0011913 | Lumbar hypertrichosis | |
| HP:0000400 | Macrotia | |
| HP:0011800 | Midface retrusion | |
| HP:0001718 | Mitral stenosis | |
| HP:0008404 | Nail dystrophy | |
| HP:0001562 | Oligohydramnios | |
| HP:0001845 | Overlapping toe | |
| HP:0007509 | Patchy hypo- and hyperpigmentation | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0001655 | Patent foramen ovale | |
| HP:0004969 | Peripheral pulmonary artery stenosis | |
| HP:0004467 | Preauricular pit | |
| HP:0002092 | Pulmonary arterial hypertension | |
| HP:0100838 | Recurrent cutaneous abscess formation | |
| HP:0410018 | Recurrent ear infections | |
| HP:0002205 | Recurrent respiratory infections | |
| HP:0000486 | Strabismus | |
| HP:0001636 | Tetralogy of Fallot | |
| HP:0000430 | Underdeveloped nasal alae | |
Run the differential on the 5 obligate / very frequent terms
Annotation source: 24053514[PMID]_28611923[PMID]_20412111[PMID]_16909393[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/163956
- This record as JSON: /data/d/163956.json