Developmental and speech delay due to SOX5 deficiency
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant, Not applicable
- Age of onset
- Infancy, Neonatal
- Status
- active
Developmental and speech delay due to SOX5 deficiency is a rare genetic syndromic intellectual disability characterized by mild to severe global developmental delay, intellectual disability and behavioral abnormalities, hypotonia, strabismus, optic nerve hypoplasia and mild facial dysmorphic features (down slanting palpebral fissures, frontal bossing, crowded teeth, auricular abnormalities and prominent philtral ridges). Other associated clinical features may include seizures and skeletal anomalies (kyphosis/scoliosis, pectus deformities).
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Developmental and speech delay due to SOX5 deficiency | |
| fr | Retard de développement et de langage par déficit en SOX5 | |
| de | Entwicklungs- und Sprachverzögerung durch SOX5-Mangel | |
| es | Retraso del desarrollo y del lenguaje por deficiencia de SOX5 | |
| it | Ritardo dello sviluppo e del linguaggio da deficit di SOX5 | |
| nl | Ontwikkelings- en spraakachterstand door SOX5-deficiëntie | |
| pt | Perturbação do desenvolvimento e da linguagem devido à deficiência SOX5 | |
| pl | Opóźnienie rozwoju i mowy z powodu niedoboru SOX5 | |
| cs | Opoždění vývoje a řeči způsobené SOX5 deficitem | |
| uk | Затримка розвитку та мовлення, зумовлена дефіцитом SOX5 | |
| zh | SOX5基因所致发育和言语迟滞 | |
| tr | SOX5 eksikliğine bağlı gelişim ve konuşma gecikmesi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616803 | NTBT | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0017782 | E | validated | |
| UMLS | C4749915 | 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:530983Lamb-Shaffer syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SOX5 | Disease-causing germline mutation(s) in | Assessed | HGNC:11201 | ENSG00000134532 | 604975 | 12p12.1 | SRY-box transcription factor 5 | 22290657[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 14 cases | Worldwide | Case(s) | Validated | 26111154[PMID]_29477873[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_29477873[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 2016-12-16| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0001249 | Intellectual disability | |
| HP:0001270 | Motor delay | |
| Very frequent (99-80%) | ||
| HP:0000750 | Delayed speech and language development | |
| HP:0430028 | Hyperplasia of the maxilla | |
| Frequent (79-30%) | ||
| HP:0004691 | 2-3 toe syndactyly | |
| HP:0012443 | Abnormality of brain morphology | |
| HP:0000739 | Anxiety | |
| HP:0000678 | Dental crowding | |
| HP:0002711 | Exaggerated median tongue furrow | |
| HP:0000577 | Exotropia | |
| HP:0002007 | Frontal bossing | |
| HP:0001252 | Hypotonia | |
| HP:0002938 | Lumbar hyperlordosis | |
| HP:0000545 | Myopia | |
| HP:0000189 | Narrow palate | |
| HP:0000648 | Optic atrophy | |
| HP:0000768 | Pectus carinatum | |
| HP:0000486 | Strabismus | |
| HP:0005659 | Thoracic kyphoscoliosis | |
| HP:0002948 | Vertebral fusion | |
| Occasional (29-5%) | ||
| HP:0000733 | Abnormal repetitive mannerisms | |
| HP:0000078 | Abnormality of the genital system | |
| HP:0000718 | Aggressive behavior | |
| HP:0007018 | Attention deficit hyperactivity disorder | |
| HP:0003316 | Butterfly vertebrae | |
| HP:0011968 | Feeding difficulties | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0001653 | Mitral regurgitation | |
| HP:0002650 | Scoliosis | |
| HP:0001250 | Seizure | |
| HP:0100716 | Self-injurious behavior | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 22290657[PMID]_26111154[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/313892
- This record as JSON: /data/d/313892.json