ORPHA:522077
Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome
Synonyms: BAGOS · Baker-Gordon syndrome · SYT1-related neurodevelopmental disorder
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy
- Status
- active
A rare genetic neurological disorder characterized by infantile hypotonia, congenital ophthalmic anomalies (including strabismus, esotropia, nystagmus, and central visual impairment), global developmental delay and intellectual disability, behavioral abnormalities, and movement disorder (such as dystonia, chorea, hyperkinesia, stereotypies). Mild facial dysmorphism and skeletal deformities have also been reported. EEG testing shows marked abnormalities in the absence of overt epileptic seizures.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome | BAGOS · Baker-Gordon syndrome · SYT1-related neurodevelopmental disorder |
| fr | Syndrome d'hypotonie infantile-anomalies oculomotrices-mouvements hyperkinétiques-retard de développement | BAGOS · Syndrome de Baker-Gordon · Trouble neurologique du développement associé à SYT1 |
| de | Infantile Hypotonie-okulomotorische Anomalien-hyperkinetische Bewegungsstörungen-Entwicklungsverzögerung-Syndrom | BAGOS · Baker-Gordon-Syndrom · SYT1-assoziierte neurologische Entwicklungsstörung |
| es | Síndrome de hipotonía infantil-anomalías oculomotoras-movimientos hipercinéticos-retraso del desarrollo | BAGOS · Síndrome de Baker-Gordon · Trastorno del neurodesarrollo asociado a SYT1 |
| it | Sindrome ipotonia neonatale-anomalie oculomotorie-movimenti ipercinetici-ritardo dello sviluppo | BAGOS · Patologia del neurosviluppo SYT1-correlata · Sindrome di Baker-Gordon |
| nl | Infantiele hypotonie - oculomotorische anomalieën - hyperkinetische bewegingen - ontwikkelingsachterstand-syndroom | BAGOS · SYT1-gerelateerde neurologische ontwikkelingsstoornis · Syndroom van Baker-Gordon |
| pt | Síndrome de hipotonia infantil-anomalias oculomotoras-movimentos hipercinéticos-perturbação do desenvolvimento | BAGOS · Doença do neurodesenvolvimento SYT1-relacionada · Síndrome Baker-Gordon |
| pl | Zespół hipotonii dziecięcej – anomalii okoruchowych – ruchów hiperkinetycznych – opóźnienia rozwoju | Zaburzenie neurorozwojowe związane z SYT1 |
| cs | Syndrom zahrnující kojeneckou hypotonii, okulomotorické anomálie, hyperkinetické pohyby a opoždění vývoje | SYT1-vázaná neurovývojová porucha |
| uk | Інфантильний синдром гіпотонії-окуломоторних аномалій-гіперкінетичних рухів-затримки розвитку | BAGOS · Синдром Бейкера-Гордона · Порушення нейророзвитку, повязане з SYT1 |
| zh | 婴儿肌张力过低症--动眼神经异常--运动过度--发育迟缓综合征 | SYT1相关神经发育症 |
| tr | İnfantil hipotoni-okülomotor anomaliler-hiperkinetik hareketler-gelişme geriliği sendromu | SYT1-ilişkili nörogelişimsel bozukluk |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 618218 | E | validated | |
| ICD-10 | F84.8 | NTBT | attributed | not yet validated |
| MONDO | 0033864 | E | validated | |
| UMLS | C4748715 | 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 (5):
- ORPHA:496916Rare genetic hyperkinetic movement disorder
rare genetic diseases - ORPHA:494457Rare hyperkinetic movement disorder
rare neurological diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases - ORPHA:98683Syndromic disorder with strabismus
rare ophthalmic disorders - ORPHA:522520Syndromic genetic disorder with strabismus
rare genetic diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SYT1 | Disease-causing germline mutation(s) in | Assessed | HGNC:11509 | ENSG00000067715 | 185605 | 12q21.2 | synaptotagmin 1 | 25705886[PMID]_30107533[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 11 cases | Worldwide | Case(s) | Validated | 30107533[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_30107533[PMID] |
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
60 annotations · validated 2024-05-21| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001344 | Absent speech | |
| HP:0000729 | Autistic behavior | |
| HP:0002353 | EEG abnormality | |
| HP:0008947 | Floppy infant | |
| HP:0001270 | Motor delay | |
| HP:0011344 | Severe global developmental delay | |
| Frequent (79-30%) | ||
| HP:0000733 | Abnormal repetitive mannerisms | |
| HP:0000565 | Esotropia | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0002487 | Hyperkinetic movements | |
| HP:0001249 | Intellectual disability | |
| HP:0000639 | Nystagmus | |
| HP:0025152 | Poor visual behavior for age | |
| HP:0000817 | Reduced eye contact | |
| HP:0008762 | Repetitive compulsive behavior | |
| HP:0002360 | Sleep abnormality | |
| HP:0000486 | Strabismus | |
| HP:0002013 | Vomiting | |
| Occasional (29-5%) | ||
| HP:0004691 | 2-3 toe syndactyly | |
| HP:0040296 | Abnormal location of the eyebrow | |
| HP:0000713 | Agitation | |
| HP:0007874 | Almond-shaped palpebral fissure | |
| HP:0000739 | Anxiety | |
| HP:0001251 | Ataxia | |
| HP:0011445 | Athetoid cerebral palsy | |
| HP:0001631 | Atrial septal defect | |
| HP:0001776 | Bilateral talipes equinovarus | |
| HP:0000244 | Brachyturricephaly | |
| HP:0002871 | Central apnea | |
| HP:0002072 | Chorea | |
| HP:0001266 | Choreoathetosis | |
| HP:0012448 | Delayed myelination | |
| HP:0025247 | Dermoid cyst | |
| HP:0001332 | Dystonia | |
| HP:0011196 | EEG with focal sharp waves | |
| HP:0011194 | EEG with series of focal spikes | |
| HP:0010850 | EEG with spike-wave complexes | |
| HP:0000286 | Epicanthus | |
| HP:0008138 | Equinus calcaneus | |
| HP:0011968 | Feeding difficulties | |
| HP:0100248 | Hemiballismus | |
| HP:0011228 | Horizontal eyebrow | |
| HP:0000540 | Hypermetropia | |
| HP:0002883 | Hyperventilation | |
| HP:0004879 | Intermittent hyperventilation | |
| HP:0001382 | Joint hypermobility | |
| HP:0001601 | Laryngomalacia | |
| HP:0002938 | Lumbar hyperlordosis | |
| HP:0008081 | Pes valgus | |
| HP:0002465 | Poor speech | |
| HP:0005876 | Progressive flexion contractures | |
| HP:0005274 | Prominent nasal tip | |
| HP:0002650 | Scoliosis | |
| HP:0012169 | Self-biting | |
| HP:0000742 | Self-mutilation | |
| HP:0003196 | Short nose | |
| HP:0010535 | Sleep apnea | |
| HP:0000319 | Smooth philtrum | |
| HP:0000219 | Thin upper lip vermilion | |
| HP:0000349 | Widow's peak | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 25705886[PMID]_30107533[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/522077
- This record as JSON: /data/d/522077.json