FOXG1 syndrome
Synonyms: FOXG1-related epileptic-dyskinetic encephalopathy
- Type
- Disease
- Group
- Disorder
- Age of onset
- Neonatal
- Status
- active
A rare genetic neurological disorder characterized by early onset of microcephaly, severe global developmental delay and cognitive impairment, dyskinesia and hyperkinetic movements, visual impairment, autistic behavior, stereotypies, sleep disturbance, epilepsy, and cerebral malformations (such as corpus callosum hypogenesis, forebrain anomaly, and delayed myelination). Speech is minimal or absent, and ambulation is not attained. Patients with a larger 14q12 microdeletion show a more severe phenotype than those with intragenic alterations, with the addition of facial dysmorphism and agenesis of the corpus callosum.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | FOXG1 syndrome | FOXG1-related epileptic-dyskinetic encephalopathy |
| fr | Syndrome FOXG1 | Encéphalopathie épileptique-dyskinétique liée à FOXG1 |
| de | FOXG1-Syndrom | Enzephalopathie, epileptisch-dyskinetische, FOXG1-assoziierte |
| es | Síndrome FOXG1 | Encefalopatía epiléptica-discinética asociada a FOXG1 · Encefalopatía epiléptica-discinética asociada al gen FOXG1 |
| it | Sindrome FOXG1 | Encefalopatia epilettica correlata a FOXG1 · Encefalopatia epilettica discinetica correlata a FOXG1 |
| nl | FOXG1-syndroom | FOXG1-gerelateerde epileptische-dyskinetische encefalopathie |
| pt | Síndrome FOXG1 | Encefalopatia epilética-discinésia FOXG1-relacionada |
| pl | Zespół FOXG1 | Encefalopatia padaczkowa związana z FOXG1 |
| cs | Syndrom FOXG1 | = en |
| uk | Синдром FOXG1 | Епілептично-дискінетична енцефалопатія, повязана з FOXG1 |
| zh | FOXG1基因综合征 | FOXG1基因相关癫痫性脑病 |
| tr | FOXG1 sendromu | FOXG1-ilişkili epileptik ensefalopati |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 613454 | E | validated | |
| ICD-10 | Q04.8 | NTBT | attributed | validated |
| MONDO | 0035383 | E | validated | |
| MONDO | 100040 | E | validated | |
| MONDO | 35383 | E | validated | |
| UMLS | C3150705 | E | validated | |
| GARD | 12825 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:166472Monogenic disease with epilepsy
rare genetic diseases; rare neurological diseases - ORPHA:306765Motor stereotypies
rare genetic diseases; rare neurological diseases - ORPHA:168778Rare pervasive developmental disorder
rare genetic diseases; rare neurological diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
Genes
0 direct · 2 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| FOXG1 | ORPHA:598164FOXG1 syndrome due to intragenic alteration | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:3811 | ENSG00000176165 | 164874 | 14q12 | forkhead box G1 | 31454984[PMID] |
| FOXG1 | ORPHA:261144FOXG1 syndrome due to 14q12 microdeletion | Role in the phenotype of | Assessed | HGNC:3811 | ENSG00000176165 | 164874 | 14q12 | forkhead box G1 | 23895774[PMID] |
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
49 annotations · validated 2020-08-26| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000733 | Abnormal repetitive mannerisms | |
| HP:0100660 | Dyskinesia | |
| HP:0011968 | Feeding difficulties | |
| HP:0001288 | Gait disturbance | |
| HP:0001252 | Hypotonia | |
| HP:0001270 | Motor delay | |
| HP:0000253 | Progressive microcephaly | |
| HP:0000486 | Strabismus | |
| Frequent (79-30%) | ||
| HP:0001273 | Abnormal corpus callosum morphology | |
| HP:0100022 | Abnormality of movement | |
| HP:0001344 | Absent speech | |
| HP:0000729 | Autistic behavior | |
| HP:0002069 | Bilateral tonic-clonic seizure | |
| HP:0003763 | Bruxism | |
| HP:0001266 | Choreoathetosis | |
| HP:0100543 | Cognitive impairment | |
| HP:0002019 | Constipation | |
| HP:0004325 | Decreased body weight | |
| HP:0012448 | Delayed myelination | |
| HP:0001332 | Dystonia | |
| HP:0003781 | Excessive salivation | |
| HP:0007359 | Focal-onset seizure | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0002487 | Hyperkinetic movements | |
| HP:0030215 | Inappropriate crying | |
| HP:0012469 | Infantile spasms | |
| HP:0001336 | Myoclonus | |
| HP:0002310 | Orofacial dyskinesia | |
| HP:0000749 | Paroxysmal bursts of laughter | |
| HP:0000817 | Reduced eye contact | |
| HP:0011344 | Severe global developmental delay | |
| HP:0008850 | Severe postnatal growth retardation | |
| HP:0004322 | Short stature | |
| HP:0002360 | Sleep abnormality | |
| HP:0001257 | Spasticity | |
| HP:0000505 | Visual impairment | |
| Occasional (29-5%) | ||
| HP:0002795 | Abnormal respiratory system physiology | |
| HP:0001274 | Agenesis of corpus callosum | |
| HP:0002376 | Developmental regression | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0002540 | Inability to walk | |
| HP:0002751 | Kyphoscoliosis | |
| HP:0007766 | Optic disc hypoplasia | |
| HP:0001302 | Pachygyria | |
| HP:0002465 | Poor speech | |
| HP:0012760 | Reduced social responsiveness | |
| HP:0002650 | Scoliosis | |
| Very rare (<4-1%) | ||
| HP:0002133 | Status epilepticus | |
| HP:0012171 | Stereotypical hand wringing | |
Run the differential on the 8 obligate / very frequent terms
Annotation source: 31454984[PMID]_28661489[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/561854
- This record as JSON: /data/d/561854.json