Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Childhood, Infancy
- Status
- active
Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome is a rare, genetic, neurological disorder characterized by mild to severe developmental delay and speech impairment, truncal hypotonia, abnormalities of vision (including cortical visual impairment and abnormal visual-evoked potentials), progressive brain atrophy mainly affecting the cerebellum, and shortened or atrophic corpus callosum. Other clinical findings may include increased muscle tone in the extremities, dystonic posturing, hyporeflexia, scoliosis, postnatal microcephaly and variable facial dysmorphism (e.g. deep-set eyes, gingival hyperplasia, short philtrum and retrognathia).
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome | |
| fr | Syndrome de retard global de développement-anomalies visuelles-atrophie cérébelleuse progressive-hypotonie axiale | |
| de | Globale Entwicklungsverzögerung-Sehanomalien-progressive zerebelläre Atrophie-trunkale Hypotonie-Syndrom | |
| es | Síndrome de retraso global del desarrollo-anomalías visuales-atrofia cerebelosa progresiva-hipotonía truncal | |
| it | Sindrome da ritardo dello sviluppo globale, anomalie della vista, atrofia cerebellare progressiva e ipotonia del tronco | |
| nl | Algehele ontwikkelingsachterstand - visuele anomalieën - progressieve cerebellaire atrofie - truncale hypotonie-syndroom | |
| pt | Síndrome de perturbação do desenvolvimento global-anomalias visuais-atrofia cerebelosa progressiva-hipotonia axial | |
| pl | Zespół całościowego opóźnienia w rozwoju, wad wzroku, postępującego zaniku móżdżku i hipotonii tułowia | |
| cs | Syndrom zahrnující vývojové opoždění, abnormality zraku, progresivní mozečkovou atrofii a trunkální hypotonii | |
| uk | Глобальна затримка розвитку - аномалії зору - прогресуюча атрофія мозочка - синдром гіпотонії стовбура головного мозку | |
| zh | 全面发育迟缓-视觉异常-进行性小脑萎缩-横断性肌张力低下综合征 | |
| tr | Yaygın gelişme geriliği-görme anomalileri-ilerleyici serebellar atrofi-trunkal hipotoni sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616875 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0018822 | E | validated | |
| UMLS | C5567522 | 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: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 - ORPHA:522508Rare genetic ophthalmic disorder with cortical involvement
rare genetic diseases - ORPHA:519343Rare ophthalmic disorder with cortical involvement
rare ophthalmic disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| EMC1 | Disease-causing germline mutation(s) in | Assessed | HGNC:28957 | ENSG00000127463 | 616846 | 1p36.13 | ER membrane protein complex subunit 1 | 26942288[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 6 cases | Worldwide | Case(s) | Validated | 26942288[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26942288[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.
HPO phenotypes
31 annotations · validated 2020-01-07| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0007371 | Corpus callosum atrophy | |
| HP:0000490 | Deeply set eye | |
| HP:0000750 | Delayed speech and language development | |
| HP:0100275 | Diffuse cerebellar atrophy | |
| HP:0001263 | Global developmental delay | |
| HP:0000278 | Retrognathia | |
| Frequent (79-30%) | ||
| HP:0000649 | Abnormality of visual evoked potentials | |
| HP:0002059 | Cerebral atrophy | |
| HP:0031954 | Dystonic gait | |
| HP:0000212 | Gingival overgrowth | |
| HP:0001265 | Hyporeflexia | |
| HP:0002187 | Intellectual disability, profound | |
| HP:0002509 | Limb hypertonia | |
| HP:0000253 | Progressive microcephaly | |
| HP:0001212 | Prominent fingertip pads | |
| HP:0002650 | Scoliosis | |
| HP:0000322 | Short philtrum | |
| Occasional (29-5%) | ||
| HP:0000377 | Abnormal pinna morphology | |
| HP:0002023 | Anal atresia | |
| HP:0000483 | Astigmatism | |
| HP:0100704 | Cerebral visual impairment | |
| HP:0002353 | EEG abnormality | |
| HP:0000565 | Esotropia | |
| HP:0008755 | Laryngotracheomalacia | |
| HP:0000294 | Low anterior hairline | |
| HP:0000347 | Micrognathia | |
| HP:0000545 | Myopia | |
| HP:0000648 | Optic atrophy | |
| HP:0000486 | Strabismus | |
| HP:0001045 | Vitiligo | |
Run the differential on the 7 obligate / very frequent terms
Annotation source: 26942288[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/480898
- This record as JSON: /data/d/480898.json