ORPHA:724143
Global developmental delay-nystagmus-short stature-corpus callosum hypoplasia-white matter abnormalities syndrome
Synonyms: WIPI2-related neuordevelopmental disorder
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Orphadata ships no English definition for this code.
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Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Global developmental delay-nystagmus-short stature-corpus callosum hypoplasia-white matter abnormalities syndrome | WIPI2-related neuordevelopmental disorder |
| fr | Syndrome de retard global de développement-nystagmus-petite taille-hypoplasie du corps calleux-anomalies de la substance blanche | Trouble du neurodéveloppement associé à WIPI2 |
| de | Globale Entwicklungsverzögerung-Nystagmus-Kleinwuchs-Corpus callosum-Hypoplasie-Anomalien der weißen Substanz-Syndrom | WIPI2-assoziierte neurologische Entwicklungsstörung |
| es | Síndrome de retraso global del desarrollo-nistagmo-talla baja-hipoplasia del cuerpo calloso-anomalías de la sustancia blanca | Trastorno del neurodesarrollo asociado al gen WIPI2 |
| it | Sindrome ritardo dello sviluppo globale-nistagmo-bassa statura-ipoplasia del corpo calloso-anomalie della sostanza bianca | Malattia del neurosviluppo correlata a WIPI2 |
| nl | Algehele ontwikkelingsachterstand - nystagmus - kleine gestalte - hypoplasie van corpus callosum - wittestofafwijkingen-syndroom | WIPI2-gerelateerde neurologische ontwikkelingsstoornis |
| pt | Global developmental delay-nystagmus-short stature-corpus callosum hypoplasia-white matter abnormalities syndrome | |
| pl | Global developmental delay-nystagmus-short stature-corpus callosum hypoplasia-white matter abnormalities syndrome | = en |
| cs | Global developmental delay-nystagmus-short stature-corpus callosum hypoplasia-white matter abnormalities syndrome | = en |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 618453 | 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 (4):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:269573Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:199639Syndrome with corpus callosum agenesis/dysgenesis as a major feature
rare developmental anomalies during embryogenesis; rare neurological diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| WIPI2 | Disease-causing germline mutation(s) in | Assessed | HGNC:32225 | ENSG00000157954 | 609225 | 7p22.1 | WD repeat domain, phosphoinositide interacting 2 | 30968111[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 6 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 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.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/724143
- This record as JSON: /data/d/724143.json