ORPHA:684226
Intellectual disability-hypotonia-facial dysmorphism-macrocephaly syndrome
Synonyms: KMT5B haploinsufficiency neurodevelopmental disorder
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- 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 | Intellectual disability-hypotonia-facial dysmorphism-macrocephaly syndrome | KMT5B haploinsufficiency neurodevelopmental disorder |
| fr | Syndrome de déficience intellectuelle-hypotonie-dysmorphie faciale-macrocéphalie | Trouble neurologique du développement dû à une haploinsuffisance de KMT5B |
| de | Intelligenzminderung-Hypotonie-Gesichtsdysmorphien-Makrozephalie-Syndrom | Neurologische Entwicklungsstörung durch KMT5B-Haploinsuffizienz |
| es | Síndrome de discapacidad intelectual-hipotonía-dismorfia facial-macrocefalia | Trastorno del neurodesarrollo por haploinsuficiencia de KMT5B |
| it | Sindrome disabilità intellettiva-ipotonia-dismorfismi facciali-macrocefalia | Malattia del neurosviluppo da aploinsufficienza di KMT5B |
| nl | Intellectuele achterstand - hypotonie - faciale dysmorfie - macrocefalie-syndroom | KMT5B-haploinsufficiëntie-gerelateerde neurologische ontwikkelingsstoornis |
| pt | Síndrome de perturbação do desenvolvimento intelectual-hipotonia-dismorfia facial-macrocefalia | Doença do neurodesenvolvimento devido a haploinsuficiência KMT5B |
| pl | Intellectual disability-hypotonia-facial dysmorphism-macrocephaly syndrome | = en |
| cs | Syndrom zahrnující intelektovou nedostatečnost, hypotonii, faciální dysmorfii a makrocefalii | = en |
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Cross-references
qualifier = Orphanet mapping relationE 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 |
|---|---|---|---|---|---|---|---|---|
| KMT5B | Disease-causing germline mutation(s) in | Assessed | HGNC:24283 | ENSG00000110066 | 610881 | 11q13.2 | lysine methyltransferase 5B | 28191889[PMID]_38571636[PMID]_36897941[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 7 cases | Worldwide | Case(s) | Validated | 38571636[PMID]_28191889[PMID]_29276005[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 38571636[PMID]_28191889[PMID]_29276005[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/684226
- This record as JSON: /data/d/684226.json