ORPHA:730261
X-linked intellectual disability, Basilicata-Akhtar type
Synonyms: MSL3-related X-linked intellectual disability · MSL3-related neurodevelopmental disorder · Basilicata-Akhtar syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- X-linked dominant
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | X-linked intellectual disability, Basilicata-Akhtar type | MSL3-related X-linked intellectual disability · MSL3-related neurodevelopmental disorder · Basilicata-Akhtar syndrome |
| fr | Déficience intellectuelle liée à l'X type Basilicata-Akhtar | Trouble du neurodéveloppement associé à MSL3 · Syndrome Basilicata-Akhtar · Déficience intellectuelle liée à l'X associée à MSL3 |
| de | X-chromosomale Intelligenzminderung Typ Basilicata-Akhtar | X-chromosomale Intelligenzminderung, MSL3-assoziierte · Basilicata-Akhtar-Syndrom · MSL3-assoziierte neurologische Entwicklungsstörung |
| es | Discapacidad intelectual ligada al cromosoma X, tipo Basilicata-Akhtar | Síndrome de Basilicata-Akhtar · Trastorno del neurodesarrollo asociado al gen MSL3 · Discapacidad intelectual ligada al cromosoma X asociada al gen MSL3 |
| it | Disabilità intellettiva legata all'X, tipo Basilicata-Akhtar | Disabilità intellettiva legata all'X correlata a MSL3 · Malattia del neurosviluppo correlata a MSL3 · Sindrome di Basilicata-Akhtar |
| nl | X-gebonden intellectuele achterstand, Basilicata-Akhtar-type | MSL3-gerelateerde intellectuele achterstand · MSL3-gerelateerde neurologische ontwikkelingsstoornis · Syndroom van Basilicata-Akhtar |
| pt | X-linked intellectual disability, Basilicata-Akhtar type | |
| pl | X-linked intellectual disability, Basilicata-Akhtar type | = en |
| cs | X-linked intellectual disability, Basilicata-Akhtar type | = en |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 301032 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
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.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MSL3 | Disease-causing germline mutation(s) in | Assessed | HGNC:7370 | Xp22.2 | MSL complex subunit 3 | 30224647[PMID]_33173220[PMID] |
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/730261
- This record as JSON: /data/d/730261.json