Pontocerebellar hypoplasia type 13
Synonyms: PCH13
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
A form of pontocerebellar hypoplasia characterized by infantile onset of severe global developmental delay with absent speech, hypotonia, feeding problems, dysmorphic craniofacial features, and development of pontocerebellar hypoplasia on brain imaging later in childhood. Other structural abnormalities of the brain, which may already be apparent at an earlier stage, include small hippocampus, thin corpus callosum, periventricular white matter abnormalities, and Dandy-Walker malformation. Seizures, nystagmus, and cortical visual impairment have been reported in some cases.
Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Pontocerebellar hypoplasia type 13 | PCH13 |
| fr | Hypoplasie pontocérébelleuse type 13 | HPC13 · Hypoplasie pontocérébelleuse associée à VPS51 · PCH13 |
| de | Pontozerebelläre Hypoplasie Typ 13 | = en |
| es | Hipoplasia pontocerebelosa tipo 13 | HPC13 |
| it | Ipoplasia pontocerebellare tipo 13 | = en |
| nl | Pontocerebellaire hypoplasie type 13 | = en |
| pt | Hipoplasia pontocerebelosa tipo 13 | = en |
| pl | Hipoplazja mostowo-móżdżkowa typu 13 | = en |
| cs | Pontocerebelární hypoplázie, typ 13 | = en |
| uk | Гіпоплазія мозочка, тип 13 | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 618606 | E | validated | |
| ICD-10 | Q04.3 | NTBT | attributed | validated |
| ICD-11 | LD20.01 | NTBT | attributed | validated |
| MONDO | 0032831 | E | validated | |
| UMLS | C5231425 | 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 | 3 cases | Worldwide | Case(s) | Validated | 30624672[PMID]_31207318[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 30624672[PMID]_31207318[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/613267
- This record as JSON: /data/d/613267.json