ORPHA:2958
X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome
Synonyms: Prieto-Badia-Mulas syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Childhood
- Status
- active
An X-linked syndromic intellectual disability characterized by intellectual disability, subcortical cerebral atrophy, dental anomalies, patella luxation, lower back skin dimple, and dysmorphic facial features.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome | Prieto-Badia-Mulas syndrome |
| fr | Syndrome de déficience intellectuelle liée à l'X-dysmorphie-atrophie cérébrale | Syndrome de Prieto-Badia-Mulas |
| de | X-chromosomale Intelligenzminderung-Dysmorphie-zerebrale Atrophie-Syndrom | Prieto-Badia-Mulas-Syndrom |
| es | Síndrome de discapacidad intelectual-dismorfia-atrofia cerebral ligado al cromosoma X | Síndrome de Prieto-Badia-Mulas |
| it | Sindrome disabilità intellettiva legata all'X-dismorfismi-atrofia cerebrale | Sindrome di Prieto-Badia-Mulas |
| nl | X-gebonden intellectuele achterstand - dysmorfie - cerebrale atrofie-syndroom | Syndroom van Prieto-Badia-Mulas |
| pt | Síndrome de perturbação do desenvolvimento intelectual-dismorfia-atrofia cerebral ligada ao X | Síndrome Prieto-Badia-Mulas |
| pl | Niepełnosprawność intelektualna sprzężona z chromosomem X - dysmorfia - atrofia mózgu | Zespół Prieto, Badia i Mulasa |
| cs | X-vázaný syndrom zahrnující mentální retardaci, dysmorfismus a atrofii mozku | Prietoův-Badiaové-Mulasův syndrom · Prieto-Badia-Mulasův syndrom |
| uk | Синдром Х-зчепленої розумової відсталості-дисморфізму-церебральної атрофії | Синдром Прієто-Бадіа-Муласа |
| zh | X连锁智力障碍-畸形-脑萎缩综合征 | Prieto-Badia-Mulas综合征 |
| tr | X'e bağlı zihinsel yetersizlik-dismorfizm-serebral atrofi sendromu | Prieto-Badia-Mulas sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 309610 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD90 | NTBT | attributed | validated |
| MONDO | 0010667 | E | validated | |
| UMLS | C4304934 | E | validated | |
| GARD | 4482 | 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 | 8 cases | Worldwide | Case(s) | Validated | 3121220[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_3121220[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
23 annotations · validated 2019-04-03| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0001098 | Abnormal fundus morphology | |
| HP:0011064 | Abnormal number of incisors | |
| HP:0001776 | Bilateral talipes equinovarus | |
| HP:0002059 | Cerebral atrophy | |
| HP:0002673 | Coxa valga | |
| HP:0000028 | Cryptorchidism | |
| HP:0000286 | Epicanthus | |
| HP:0040019 | Finger clinodactyly | |
| HP:0001290 | Generalized hypotonia | |
| HP:0000348 | High forehead | |
| HP:0000316 | Hypertelorism | |
| HP:0000023 | Inguinal hernia | |
| HP:0001249 | Intellectual disability | |
| HP:0000369 | Low-set ears | |
| HP:0000639 | Nystagmus | |
| HP:0000939 | Osteoporosis | |
| HP:0010499 | Patellar subluxation | |
| HP:0000448 | Prominent nose | |
| HP:0000508 | Ptosis | |
| HP:0000278 | Retrognathia | |
| HP:0010781 | Skin dimple | |
| HP:0000486 | Strabismus | |
| HP:0005815 | Supernumerary ribs | |
Annotation source: 1673297[PMID]_3121220[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2958
- This record as JSON: /data/d/2958.json