ORPHA:694956
Intellectual disability-lymphoid hypertrophy-macrocephaly syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Intellectual disability-lymphoid hypertrophy-macrocephaly syndrome | |
| fr | Syndrome de déficience intellectuelle-hypertrophie lymphoïde-macrocéphalie | |
| de | Intelligenzminderung-Lymphoidhypertrophie-Makrozephalie-Syndrom | MNDLFH · Makrozephalie mit neurologischer Entwicklungsverzögerung, lymphoider Hyperplasie und persistierendem fetalen Hämoglobin |
| es | Síndrome de discapacidad intelectual-hipertrofia linfoide-macrocefalia | |
| it | Sindrome disabilità intellettiva-ipertrofia linfoide-macrocefalia | |
| nl | Intellectuele achterstand - lymfoïde hypertrofie - macrocefalie-syndroom | |
| pt | Intellectual disability-lymphoid hypertrophy-macrocephaly syndrome | |
| pl | Intellectual disability-lymphoid hypertrophy-macrocephaly syndrome | |
| cs | Intellectual disability-lymphoid hypertrophy-macrocephaly syndrome |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 619769 | 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 (4):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:728642Genetic syndrome or malformation associated with head and neck malformations
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:156237Syndrome or malformation associated with head and neck malformations
rare developmental anomalies during embryogenesis; rare otorhinolaryngological diseases; rare surgical maxillo-facial diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ZBTB7A | Disease-causing germline mutation(s) in | Assessed | HGNC:18078 | ENSG00000178951 | 605878 | 19p13.3 | zinc finger and BTB domain containing 7A | 34515416[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 12 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/694956
- This record as JSON: /data/d/694956.json