ORPHA:662762
Motor delay-microcephaly-speech impairment-ocular abnormalities syndrome
Synonyms: ARPC4-related syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Status
- active
Orphadata ships no English definition for this code.
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Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Motor delay-microcephaly-speech impairment-ocular abnormalities syndrome | ARPC4-related syndrome |
| fr | Syndrome de retard moteur-microcéphalie-trouble du language-anomalies oculaires | Syndrome lié à ARPC4 |
| de | Motorische Verzögerung-Mikrozephalie-Sprachstörungen-Augenanomalien-Syndrom | ARCP4-assoziiertes Syndrom |
| es | Síndrome de retraso motor-microcefalia-trastorno del habla-anomalías oculares | Síndrome asociado al gen ARCP4 |
| it | Sindrome ritardo motorio-microcefalia-deficit del linguaggio-anomalie oculari | Sindrome correlata a ARCP4 |
| nl | Motorische achterstand - microcefalie - spraakstoornis - oogafwijkingen-syndroom | ARCP4-gerelateerd syndroom |
| pt | Síndrome de atraso na motricidade-microcefalia-perturbação da linguagem-anomalias oculares | Síndrome ARCP4-relacionada |
| pl | Zespół z opóźnieniem ruchowym, małogłowiem, zaburzeniami mowy i nieprawidłowościami oczu | = en |
| cs | Syndrom zahrnující opoždění motoriky, mikrocefalii, poruchu řeči a abnormality očí | = en |
| uk | Синдром затримки моторного розвитку-мікроцефалії-розладів мовлення-аномалій очей | Синдром, повязаний з ARPC4 |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 620141 | E | validated | |
| ICD-10 | Q87.0 | NTBT | attributed | validated |
| MONDO | 0859324 | E | validated | |
| MONDO | 859324 | E | validated | |
| UMLS | C5925075 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- 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:269528Syndrome with microcephaly as a major feature
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ARPC4 | Disease-causing germline mutation(s) in | Assessed | HGNC:707 | ENSG00000241553 | 604226 | 3p25.3 | actin related protein 2/3 complex subunit 4 | 35047857[PMID] |
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/662762
- This record as JSON: /data/d/662762.json