X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Childhood, Infancy
- Status
- active
A rare X-linked syndromic intellectual disability characterized by severe to profound intellectual disability, muscular hypotonia in childhood, delayed walking, delayed or minimal/absent speech, behavioral abnormalities including aggressiveness, agitation, and self-injurious behavior, and dysmorphic facial features (such as triangular face with high forehead, prominent ears, and small, pointed chin). Additional reported manifestations include microcephaly, short stature, and seizures, among others.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome | |
| fr | Syndrome de déficience intellectuelle liée à l'X-hypotonie-dysmorphie faciale-comportement agressif | |
| de | X-chromosomale Intelligenzminderung-Hypotonie-Gesichtsdysmorphien-aggressives Verhalten-Syndrom | |
| es | Síndrome de discapacidad intelectual-hipotonía-dismorfia facial-conducta agresiva ligado al cromosoma X | |
| it | Sindrome disabilità intellettiva legata all'X-ipotonia-dismorfismi facciali-comportamento aggressivo | |
| nl | X-gebonden intellectuele achterstand - hypotonie - faciale dysmorfie - agressief gedrag-syndroom | |
| pt | Síndrome de perturbação do desenvolvimento intelectual-hipotonia-dismorfia facial-comportamento agressivo ligada ao X | |
| pl | Niepełnosprawność intelektualna sprzężona z chromosomem X - hipotonia - dysmorfia twarzy - agresywne zachowanie | |
| cs | X-vázaný syndrom zahrnující mentální retardaci, hypotonii, faciální dysmorfismus a agresivní chování | |
| uk | Синдром Х-зчепленої розумової відсталості-гіпотонії-дисморфізму обличчя- агресивної поведінки | |
| zh | X连锁智力障碍-张力减退-面部畸形-攻击行为综合征 | |
| tr | X'e bağlı zihinsel yetersizlik-hipotoni-yüz dismorfizmi-agresif davranış sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 304340 | NTBT | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD90 | NTBT | attributed | validated |
| UMLS | C4304918 | 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 (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.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| AP1S2 | Disease-causing germline mutation(s) in | Assessed | HGNC:560 | ENSG00000182287 | 300629 | Xp22.2 | adaptor related protein complex 1 subunit sigma 2 | 17186471[PMID]_12599187[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 10 cases | Worldwide | Case(s) | Validated | 12599187[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_12599187[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
19 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0000718 | Aggressive behavior | |
| HP:0011968 | Feeding difficulties | |
| HP:0001288 | Gait disturbance | |
| HP:0001290 | Generalized hypotonia | |
| HP:0001263 | Global developmental delay | |
| HP:0000348 | High forehead | |
| HP:0002187 | Intellectual disability, profound | |
| HP:0000276 | Long face | |
| HP:0003189 | Long nose | |
| HP:0000252 | Microcephaly | |
| HP:0000194 | Open mouth | |
| HP:0000411 | Protruding ear | |
| HP:0000331 | Short chin | |
| HP:0003202 | Skeletal muscle atrophy | |
| HP:0000325 | Triangular face | |
| Frequent (79-30%) | ||
| HP:0002353 | EEG abnormality | |
| HP:0003198 | Myopathy | |
| Occasional (29-5%) | ||
| HP:0004322 | Short stature | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 12599187[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/85329
- This record as JSON: /data/d/85329.json