CLCN4-related X-linked intellectual disability syndrome
Synonyms: Raynaud-Claes syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- X-linked dominant
- Age of onset
- Childhood, Infancy
- Status
- active
A rare X-linked syndromic intellectual disability characterized by intellectual disability of variable degree, behavioral anomalies (including autism, mood disorders, obsessive-compulsive behavior, and hetero- and auto-aggression), and epilepsy. Progressive neurological symptoms like movement disorders and spasticity, as well as subtle dysmorphic features have also been reported. Heterozygous females may be as severely affected as males.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | CLCN4-related X-linked intellectual disability syndrome | Raynaud-Claes syndrome |
| fr | Syndrome de déficience intellectuelle liée à l'X associé à CLCN4 | Syndrome de Raynaud-Claes |
| de | CLCN4-assoziiertes X-chromosomales Intelligenzminderung-Syndrom | |
| es | Síndrome de discapacidad intelectual ligada al cromosoma X asociado al gen CLCN4 | |
| it | Disabilità intellettiva legata all'X correlata a CLCN4 | |
| nl | CLCN4-gerelateerde X-gebonden intellectuele achterstand-syndroom | |
| pt | Síndrome de perturbação do desenvolvimento intelectual ligado ao X CLCN4-relacionada | |
| pl | Zespół niepełnosprawności intelektualnej sprzężony z chromosomem X, związany z CLCN4 | = en |
| cs | CLCN4-vázaná X-vázaná mentální retardace | = en |
| uk | Х-зчеплений синдром інтелектуальної недостатності, повязаний з CLCN4 | Синдром Рейно-Клеза |
| zh | CLCN4相关X 连锁的智力障碍综合征 | = en |
| tr | CLCN4-ilişkili X'e bağlı zihinsel yetersizlik sendromu | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300114 | E | validated | |
| ICD-10 | F78.1 | NTBT | attributed | not yet validated |
| ICD-11 | LD90 | NTBT | attributed | validated |
| MONDO | 0010250 | E | validated | |
| UMLS | C0796221 | 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:538238Neurological channelopathy of the central nervous system due to a genetic chloride channel defect
rare genetic diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CLCN4 | Disease-causing germline mutation(s) in | Assessed | HGNC:2022 | ENSG00000073464 | 302910 | Xp22.2 | Cl-/H+ antiporter 4 | 27550844[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_27550844[PMID] |
| Cases/families | 38 cases | Worldwide | Case(s) | Validated | 27550844[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
45 annotations · validated 2019-09-12| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001263 | Global developmental delay | |
| Frequent (79-30%) | ||
| HP:0002500 | Abnormal cerebral white matter morphology | |
| HP:0000708 | Atypical behavior | |
| HP:0002120 | Cerebral cortical atrophy | |
| HP:0002342 | Intellectual disability, moderate | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0001250 | Seizure | |
| Occasional (29-5%) | ||
| HP:0000718 | Aggressive behavior | |
| HP:0000739 | Anxiety | |
| HP:0000729 | Autistic behavior | |
| HP:0002069 | Bilateral tonic-clonic seizure | |
| HP:0007302 | Bipolar affective disorder | |
| HP:0100704 | Cerebral visual impairment | |
| HP:0000722 | Compulsive behaviors | |
| HP:0012448 | Delayed myelination | |
| HP:0000716 | Depression | |
| HP:0011193 | EEG with focal spikes | |
| HP:0011968 | Feeding difficulties | |
| HP:0008947 | Floppy infant | |
| HP:0002384 | Focal impaired awareness seizure | |
| HP:0011167 | Focal tonic seizure | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0002121 | Generalized non-motor (absence) seizure | |
| HP:0000752 | Hyperactivity | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0012469 | Infantile spasms | |
| HP:0002061 | Lower limb spasticity | |
| HP:0000256 | Macrocephaly | |
| HP:0000252 | Microcephaly | |
| HP:0001336 | Myoclonus | |
| HP:0006970 | Periventricular leukomalacia | |
| HP:0002073 | Progressive cerebellar ataxia | |
| HP:0002650 | Scoliosis | |
| HP:0100716 | Self-injurious behavior | |
| HP:0000486 | Strabismus | |
| HP:0002119 | Ventriculomegaly | |
| Very rare (<4-1%) | ||
| HP:0002072 | Chorea | |
| HP:0000028 | Cryptorchidism | |
| HP:0000023 | Inguinal hernia | |
| HP:0000276 | Long face | |
| HP:0011800 | Midface retrusion | |
| HP:0001763 | Pes planus | |
| HP:0000307 | Pointed chin | |
| HP:0002317 | Unsteady gait | |
| HP:0006986 | Upper limb spasticity | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 27550844[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/485350
- This record as JSON: /data/d/485350.json