CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Neonatal
- Status
- active
A rare multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, severe intellectual disability, severe speech and communication problems and distinctive dysmorphic faces (high hairline, thin eyebrows, hypertelorism, dysmorphic ears, broad nasal bridge and tip, and narrow jaw). Height is not affected. Some patients may also present autistic behaviors.
Names in Orphadata languages
11 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome | |
| fr | Syndrome de trouble neurodéveloppemental-déficience intellectuelle sévère-dysmorphisme facial associé à CCNK | |
| de | CCNK-abhängige neurologische Entwicklungsstörung-schwere Intelligenzminderung-Gesichtsdysmorphie-Syndrom | |
| es | Síndrome de trastorno del neurodesarrollo-discapacidad intelectual grave-dismorfia facial asociado a CCNK | |
| it | Malattia sindromica del neurosviluppo, grave disabilità intellettiva e dismorfismi facciali correlata a CCNK | |
| nl | CCNK-gerelateerd syndroom van neurologische ontwikkelingsstoornis - ernstige intellectuele achterstand - faciale dysmorfie | |
| pt | Síndrome de perturbação do neurodesenvolvimento-perturbação grave do desenvolvimento intelectual-dismorfia facial CCNK-relacionada | |
| pl | Zespół zaburzenia neurorozwojowego, znacznej niepełnosprawności intelektualnej oraz dysmorfii twarzy związany z CCNK | |
| cs | Syndrom zahrnující neurovývojovou poruchu související s CCNK, těžkou mentální retardaci a obličejový dysmorfismus | |
| uk | CCNK-повязаний синдром порушення нейророзвитку-тяжкої розумової відсталості-лицьового дизморфізму | |
| tr | CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 618147 | E | validated | |
| ICD-10 | G93.8 | NTBT | attributed | validated |
| MONDO | 0035775 | E | validated | |
| UMLS | C5681527 | 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 (2):
- 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
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CCNK | Disease-causing germline mutation(s) in | Assessed | HGNC:1596 | ENSG00000090061 | 603544 | 14q32.2 | cyclin K | 30122539[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 cases | Worldwide | Case(s) | Validated | 30122539[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 30122539[PMID]_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/600668
- This record as JSON: /data/d/600668.json