Pontocerebellar hypoplasia type 11
Synonyms: PCH11 · Pontocerebellar hypoplasia due to TBC1D23
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
A form of pontocerebellar hypoplasia characterized by microcephaly, severe global developmental delay and intellectual disability, dysmorphic facial features, cerebellar syndrome, and pontocerebellar hypoplasia on brain imaging. Behavioral abnormalities are frequently observed. Other reported manifestations include seizures, ocular anomalies, recurrent respiratory infections, and thin or absent corpus callosum, among others.
Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Pontocerebellar hypoplasia type 11 | PCH11 · Pontocerebellar hypoplasia due to TBC1D23 |
| fr | Hypoplasie pontocérébelleuse type 11 | HPC11 · PCH11 |
| de | Pontozerebelläre Hypoplasie Typ 11 | PCH11 · Pontozerebelläre Hypoplasie durch TBC1D23-Genmutation |
| es | Hipoplasia pontocerebelosa tipo 11 | HPC11 · Hipoplasia pontocerebelosa por una mutación en el gen TBC1D23 |
| it | Ipoplasia pontocerebellare tipo 11 | Ipoplasia pontocerebellare correlata a TBC1D23 · PCH11 |
| nl | Pontocerebellaire hypoplasie type 11 | PCH11 · Pontocerebellaire hypoplasie door TBC1D23 |
| pt | Hipoplasia pontocerebelosa tipo 11 | PCH11 · Hipoplasia pontocerebelosa devido a TBC1D23 |
| pl | Hipoplazja mostowo-móżdżkowa typu 11 | = en |
| cs | Pontocerebelární hypoplázie, typ 11 | = en |
| uk | Гіпоплазія мозочка, тип 11 | PCH11 · Гіпоплазія мозочка внаслідок TBC1D23 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 617695 | E | validated | |
| ICD-10 | Q04.3 | NTBT | attributed | validated |
| ICD-11 | LD20.01 | NTBT | attributed | validated |
| MONDO | 0054669 | E | validated | |
| UMLS | C4540164 | 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 (3):
- 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 - ORPHA:98523Pontocerebellar hypoplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 13 cases | Worldwide | Case(s) | Validated | 28823707[PMID]_28823706[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 28823707[PMID]_28823706[PMID]_ORPHANET |
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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/611247
- This record as JSON: /data/d/611247.json