ORPHA:717854
Developmental delay-microcephaly-short stature-ocular disorders-intellectual disability syndrome
Synonyms: TEBIVANED syndrome · Tessadori-Bicknell-Van Haaften neurodevelopmental syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Developmental delay-microcephaly-short stature-ocular disorders-intellectual disability syndrome | TEBIVANED syndrome · Tessadori-Bicknell-Van Haaften neurodevelopmental syndrome |
| fr | Syndrome de retard du développement-microcéphalie-troubles oculaires-déficience intellectuelle | Syndrome TEBIVANED · Syndrome neurodéveloppemental Tessadori-Bicknell-Van Haaften |
| de | Entwicklungsverzögerung-Mikrozephalie-Kleinwuchs-Augenerkrankungen-Intelligenzminderung-Syndrom | TEBIVANED-Syndrom · Neurologische Entwicklungsstörung vom Typ Tessadori-Bicknell-Van Haaften |
| es | Síndrome de retraso del desarrollo-microcefalia-talla baja-trastornos oculares-discapacidad intelectual | Síndrome TEBIVANED · Síndrome del neurodesarrollo de Tessadori-Bicknell-Van Haaften |
| it | Sindrome ritardo dello sviluppo-microcefalia-bassa statura-disturbi oculari-disabilità intellettiva | Sindrome TEBIVANED · Malattia del neurosviluppo di Tessadori-Bicknell-Van Haaften |
| nl | Ontwikkelingsachterstand - microcefalie - kleine gestalte - oogaandoeningen - intellectuele achterstand-syndroom | TEBIVANED-syndroom · Neurologisch ontwikkelingssyndroom van Tessadori-Bicknell-Van Haaften |
| pt | Developmental delay-microcephaly-short stature-ocular disorders-intellectual disability syndrome | |
| pl | Developmental delay-microcephaly-short stature-ocular disorders-intellectual disability syndrome | = en |
| cs | Developmental delay-microcephaly-short stature-ocular disorders-intellectual disability syndrome | = en |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 619758 | BTNT | validated | |
| OMIM | 619759 | BTNT | validated | |
| OMIM | 619950 | BTNT | validated | |
| OMIM | 619951 | BTNT | 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 (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:269528Syndrome with microcephaly as a major feature
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases
No children.
4
Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| H4C3 | Disease-causing germline mutation(s) in | Assessed | HGNC:4787 | ENSG00000197061 | 602827 | 6p22.2 | H4 clustered histone 3 | 35202563[PMID] |
| H4C5 | Disease-causing germline mutation(s) in | Assessed | HGNC:4790 | ENSG00000276966 | 602830 | 6p22.2 | H4 clustered histone 5 | 35202563[PMID] |
| H4C9 | Disease-causing germline mutation(s) in | Assessed | HGNC:4793 | ENSG00000276180 | 602833 | 6p22.1 | H4 clustered histone 9 | 35202563[PMID] |
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
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/717854
- This record as JSON: /data/d/717854.json