ORPHA:724148
Global developmental delay-early-onset refractory epilepsy-spastic quadriplegia-microcephaly-cerebral atrophy syndrome
Synonyms: El-Hattab-Alkuraya Syndrome · WDR45B-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.
1
Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Global developmental delay-early-onset refractory epilepsy-spastic quadriplegia-microcephaly-cerebral atrophy syndrome | El-Hattab-Alkuraya Syndrome · WDR45B-related neuordevelopmental disorder |
| fr | Syndrome de retard global de développement-épilepsie à début précoce réfractaire-quadriplégie spastique-microcéphalie-atrophie cérébrale | Trouble du neurodéveloppement associé à WDR45B · Syndrome El-Hattab-Alkuraya |
| de | Globale Entwicklungsverzögerung-früh beginnende therapieresistente Epilepsie-spastische Tetraplegie-Mikrozephalie-zerebrale Atrophie-Syndrom | El-Hattab-Alkuraya-Syndrom · WDR45B-assoziierte neurologische Entwicklungsstörung |
| es | Síndrome de retraso global del desarrollo-epilepsia refractaria de inicio precoz-cuadriplejia espástica-microcefalia-atrofia cerebral | Síndrome de El-Hattab-Alkuraya · Trastorno del neurodesarrollo asociado al gen WDR45B |
| it | Sindrome ritardo dello sviluppo globale-epilessia refrattaria ad esordio precoce-tetraplegia spastica-microcefalia-atrofia cerebrale | Sindrome di El-Hattab-Alkuraya · Malattia del neurosviluppo correlata a WDR45B |
| nl | Algehele ontwikkelingsachterstand - vroeg optredende refractaire epilepsie - spastische tetraplegie - microcefalie - cerebrale atrofie-syndroom | Syndroom van El-Hattab-Alkuraya · WDR45B-gerelateerde neurologische ontwikkelingsstoornis |
| pt | Global developmental delay-early-onset refractory epilepsy-spastic quadriplegia-microcephaly-cerebral atrophy syndrome | |
| pl | Global developmental delay-early-onset refractory epilepsy-spastic quadriplegia-microcephaly-cerebral atrophy syndrome | = en |
| cs | Global developmental delay-early-onset refractory epilepsy-spastic quadriplegia-microcephaly-cerebral atrophy syndrome | = en |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 617977 | 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 (4):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:166472Monogenic disease with epilepsy
rare genetic diseases; rare neurological diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:269528Syndrome with microcephaly as a major feature
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| WDR45B | Disease-causing germline mutation(s) in | Assessed | HGNC:25072 | ENSG00000141580 | 609226 | 17q25.3 | WD repeat domain 45B | 28503735[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 18 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/724148
- This record as JSON: /data/d/724148.json