ORPHA:662207
Neurodevelopmental delay-brain malformations-skeletal defects-intellectual disability syndrome
Synonyms: HNRPH1-related neurodevelopmental disorder · Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy
- 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-brain malformations-skeletal defects-intellectual disability syndrome | HNRPH1-related neurodevelopmental disorder · Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects |
| fr | Syndrome de retard neurodéveloppemental-malformations cérébrales-anomalies squelettiques-déficience intellectuelle | Pathologie de trouble neurologique du développement avec dysmorphie cranio-facial et anomalies squelettiques |
| de | Neurologische Entwicklungsverzögerung-Hirnfehlbildungen-Skelettdefekte-Intelligenzminderung-Syndrom | Neurologische Entwicklungsstörung mit kraniofazialen Dysmorphien und skelettalen Defekten · Neurologische Entwicklungsstörung, HNRPH1-assoziierte |
| es | Síndrome de retraso del neurodesarrollo-malformaciones cerebrales-defectos esqueléticos-discapacidad intelectual | Trastorno del neurodesarrollo asociado al gen HNRPH1 · Trastorno del neurodesarrollo con dismorfia craneofacial y defectos esqueléticos |
| it | Sindrome ritardo dello sviluppo neurologico-malformazioni cerebrali-difetti scheletrici-disabilità intellettiva | Malattia del neurosviluppo correlata a HNRPH1 · Malattia del neurosviluppo con dismorfismi craniofacciali e difetti scheletrici |
| nl | Neurologische ontwikkelingsachterstand - hersenmalformaties - skeletdefecten - intellectuele achterstand-syndroom | HNRPH1-gerelateerde neurologische ontwikkelingsstoornis · Neurologische ontwikkelingsstoornis met craniofaciale dysmorfie en skeletdefecten |
| pt | Síndrome de perturbação do neurodesenvolvimento-malformações cerebrais-defeitos esqueléticos-perturbação do desenvolvimento intelectual | Doença do neurodesenvolvimento HNRPH1-relacionada · Doença do neurodesenvolvimento com dismorfia facial e defeitos esqueléticos |
| pl | Zespół z opóźnieniem neurorozwojowym, malformacjami mózgu, wadami kości i niepełnosprawnością intelektualną | = en |
| cs | Syndrom zahrnující opoždění neurologického vývoje, malformace mozku, vady skeletu a intelektovou nedostatečnost | = en |
| uk | Синдром затримки нейророзвитку-вад розвитку мозку-дефектів скелета-інтелектуальної недостатності | Повязане з HNRPH1 порушення нейророзвитку · Порушення нейророзвитку з черепно-лицьовим дисморфізмом та дефектами скелета |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 620083 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0859301 | E | validated | |
| MONDO | 859301 | E | validated | |
| UMLS | C5774235 | 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 (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:269531Other syndrome with a central nervous system malformation as a major feature
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 |
|---|---|---|---|---|---|---|---|---|
| HNRNPH1 | Disease-causing germline mutation(s) in | Assessed | HGNC:5041 | ENSG00000169045 | 601035 | 5q35.3 | heterogeneous nuclear ribonucleoprotein H1 | 29938792[PMID]_32335897[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 | 29938792[PMID]_32335897[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 29938792[PMID]_32335897[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/662207
- This record as JSON: /data/d/662207.json