ORPHA:662198
Neurodevelopmental delay-intellectual disability-skeletal defects syndrome
Synonyms: HNRNPH2-Related Neurodevelopmental Disorder
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- X-linked dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
Orphadata ships no English definition for this code.
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Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Neurodevelopmental delay-intellectual disability-skeletal defects syndrome | HNRNPH2-Related Neurodevelopmental Disorder |
| fr | Syndrome de trouble neurologique du développement-déficience intellectuelle-anomalies squelettiques | Trouble neurodéveloppemental lié à l'HNRNPH2 |
| de | Neurologische Entwicklungsverzögerung-Intelligenzminderung-Skelettdefekte-Syndrom | Neurologische Entwicklungsstörung, HNRNPH2-assoziierte |
| es | Síndrome de retraso del neurodesarrollo-discapacidad intelectual-defectos esqueléticos | Trastorno del neurodesarrollo asociado al gen HNRNPH2 |
| it | Ritardo dello sviluppo neurologico-disabilità intellettiva-difetti scheletrici | Malattia del neurosviluppo correlata a HNRNPH2 |
| nl | Neurologische ontwikkelingsachterstand - intellectuele achterstand - skeletdefecten-syndroom | HNRNPH2-gerelateerde neurologische ontwikkelingsstoornis |
| pt | Síndrome de perturbação do neurodesenvolvimento-perturbação do desenvolvimento intelectual-defeitos esqueléticos | Doença do neurodesenvolvimento HNRNPH2-relacionada |
| pl | Zespół z opóźnieniem neurorozwojowym, niepełnosprawnością intelektualną i wadami kości | = en |
| cs | Syndrom zahrnující opoždění neurologického vývoje, intelektovou nedostatečnost a vady skeletu | = en |
| uk | Синдром затримки нейророзвитку-інтелектуальної недостатності-скелетних дефектів | HNRNPH2-повязаний розлад нейророзвитку |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300986 | E | validated | |
| ICD-10 | Q87.5 | NTBT | attributed | validated |
| MONDO | 0010512 | E | validated | |
| MONDO | 10512 | E | validated | |
| UMLS | C5925131 | 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 (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.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| HNRNPH2 | Disease-causing germline mutation(s) in | Assessed | HGNC:5042 | ENSG00000126945 | 300610 | Xq22.1 | heterogeneous nuclear ribonucleoprotein H2 | 31670473[PMID]_33728377[PMID]_27545675[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 44 cases | Worldwide | Case(s) | Validated | 27545675[PMID]_30887513[PMID]_31236915[PMID]_31670473[PMID]_33728377[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 27545675[PMID]_30887513[PMID]_31236915[PMID]_31670473[PMID]_33728377[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.
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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/662198
- This record as JSON: /data/d/662198.json