Developmental delay with autism spectrum disorder and gait instability
Synonyms: Developmental delay with ASD and gait instability
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Developmental delay with autism spectrum disorder and gait instability is a rare, genetic, neurological disorder characterized by infant hypotonia and feeding difficulties, global development delay, mild to moderated intellectual disability, delayed independent ambulation, broad-based gait with arms upheld and flexed at the elbow with brisk walking or running, and limited language skills. Behavior patterns are highly variable and range from sociable and affectionate to autistic behavior.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Developmental delay with autism spectrum disorder and gait instability | Developmental delay with ASD and gait instability |
| fr | Retard de développement avec trouble du spectre de l'autisme et démarche instable | |
| de | Entwicklungsverzögerung mit Autismus-Spektrum-Störung und Gang-Instabilität | |
| es | Retraso del desarrollo con trastorno del espectro autista e inestabilidad en la marcha | Retraso del desarrollo con TEA e inestabilidad en la marcha |
| it | Ritardo dello sviluppo con disturbo dello spettro autistico e andatura instabile | Ritardo dello sviluppo con ASD e andatura instabile |
| nl | Ontwikkelingsachterstand met autismespectrumstoornis en ganginstabiliteit | Ontwikkelingsachterstand met ASS en ganginstabiliteit |
| pt | Perturbação do desenvolvimento com perturbação do espectro autista e instabilidade da marcha | |
| pl | Opóźnienie rozwoju z zaburzeniem ze spektrum autyzmu i niestabilnością chodu | Opóźnienie rozwoju z ASD i niestabilnością chodu |
| cs | Opoždění vývoje s poruchou autistického spektra a nestabilní chůzí | Opoždění vývoje s ASD a nestabilní chůzí |
| uk | Затримка розвитку з розладом аутистичного спектру та нестійкістю ходи | Затримка розвитку при РАС та нестабільність ходи |
| zh | 发育迟缓伴自闭症谱系障碍和步态不稳定 | 发育迟缓伴ASD和步态不稳 |
| tr | Otizm spektrum bozukluğu ve yürüme istikrarsızlığı ile seyreden gelişme geriliği | ASD ve yürüme dengesizliği ile seyreden gelişme geriliği |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615516 | E | validated | |
| ICD-10 | F84.8 | NTBT | attributed | not yet validated |
| MONDO | 0014224 | E | validated | |
| UMLS | C4749505 | 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 (1):
- ORPHA:180772Rare disease with autism
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| HERC2 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:4868 | ENSG00000128731 | 605837 | 15q13.1 | HECT and RLD domain containing E3 ubiquitin protein ligase 2 | 23065719[PMID]_23243086[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 22 cases | Worldwide | Case(s) | Validated | 23065719[PMID]_23243086[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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/329195
- This record as JSON: /data/d/329195.json