ORPHA:261144
FOXG1 syndrome due to 14q12 microdeletion
Synonyms: Del(14)(q12) · Monosomy 14q12
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Not applicable
- Age of onset
- Infancy, Neonatal
- Status
- active
14q12 microdeletion syndrome is a recently described syndrome characterized by severe intellectual deficit, with a normal neonatal period, followed by a phase of regression at the age of 3-6 months.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | FOXG1 syndrome due to 14q12 microdeletion | Del(14)(q12) · Monosomy 14q12 |
| fr | Syndrome FOXG1 dû à une microdélétion 14q12 | Del(14)(q12) · Monosomie 14q12 · Syndrome FOXG1 plus |
| de | FOXG1-Syndrom durch Mikrodeletion 14q12 | Del(14)(q12) · Monosomie 14q12 |
| es | Síndrome FOXG1 por microdeleción 14q12 | Del(14)(q12) · Monosomía 14q12 |
| it | Sindrome FOXG1 da microdelezione 14q12 | Del(14)(q12) · Monosomia 14q12 |
| nl | FOXG1-syndroom door 14q12-microdeletie | Del(14)(q12) · Monosomie 14q12 |
| pt | Síndrome FOXG1 por microdeleção 14q12 | Del(14)(q12) · Monossomia 14q12 |
| pl | Zespół mikrodelecji 14q12 | Del(14)(q12) · Monosomia 14q12 |
| cs | Syndrom mikrodelece 14q12 | Del(14)(q12) · Monozomie 14q12 |
| uk | Синдром FOXG1 внаслідок мікроделеції 14q12 | Del(14)(q12) · Моносомія 14q12 |
| zh | 染色体14q12微缺失综合征 | 14q12单体 |
| tr | 14q12 mikrodelesyon sendromu | Del (14) (q12) · Monozomi 14q12 |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q93.5 | NTBT | attributed | validated |
| ICD-11 | LD44.E | NTBT | index | validated |
| MONDO | 0016833 | E | validated | |
| UMLS | C4305240 | 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:561854FOXG1 syndrome
rare genetic diseases; rare neurological diseases - ORPHA:262110Partial deletion of the long arm of chromosome 14 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FOXG1 | Role in the phenotype of | Assessed | HGNC:3811 | ENSG00000176165 | 164874 | 14q12 | forkhead box G1 | 23895774[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 19303466[PMID]_18627055[PMID] | |
| 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
29 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000733 | Abnormal repetitive mannerisms | |
| HP:0009738 | Abnormality of the antihelix | |
| HP:0001344 | Absent speech | |
| HP:0000414 | Bulbous nose | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0002376 | Developmental regression | |
| HP:0000286 | Epicanthus | |
| HP:0000232 | Everted lower lip vermilion | |
| HP:0011968 | Feeding difficulties | |
| HP:0001510 | Growth delay | |
| HP:0001252 | Hypotonia | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0000252 | Microcephaly | |
| HP:0000411 | Protruding ear | |
| HP:0010804 | Tented upper lip vermilion | |
| Frequent (79-30%) | ||
| HP:0001274 | Agenesis of corpus callosum | |
| HP:0000581 | Blepharophimosis | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0003781 | Excessive salivation | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0002808 | Kyphosis | |
| HP:0000158 | Macroglossia | |
| HP:0000303 | Mandibular prognathia | |
| HP:0100540 | Palpebral edema | |
| HP:0005487 | Prominent metopic ridge | |
| HP:0002650 | Scoliosis | |
| HP:0001250 | Seizure | |
| HP:0003196 | Short nose | |
| HP:0000319 | Smooth philtrum | |
Run the differential on the 12 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/261144
- This record as JSON: /data/d/261144.json