ORPHA:700333
Hypotonia-speech impairment-severe cognitive delay syndrome due to UNC80 deficiency
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hypotonia-speech impairment-severe cognitive delay syndrome due to UNC80 deficiency | |
| fr | Syndrome d'hypotonie-troubles du langage sévères-retard cognitif sévère par déficit en UNC80 | |
| de | Hypotonie-Sprachstörung-schwere kognitive Entwicklungsverzögerung-Syndrom, UNC80-assoziiert | IHPRF2 · Infantile Hypotonie mit psychomotorischer Entwicklungsverzögerung und charakteristischem Gesichtsausdruck 2 |
| es | Síndrome de hipotonía-trastorno del habla-retraso cognitivo grave por deficiencia de UNC80 | |
| it | Sindrome ipotonia-deficit del linguaggio-grave ritardo cognitivo da deficit di UNC80 | |
| nl | Hypotonie - spraakstoornis - ernstige cognitieve achterstand-syndroom door UNC80-deficiëntie | |
| pt | Hypotonia-speech impairment-severe cognitive delay syndrome due to UNC80 deficiency | |
| pl | Hypotonia-speech impairment-severe cognitive delay syndrome due to UNC80 deficiency | |
| cs | Hypotonia-speech impairment-severe cognitive delay syndrome due to UNC80 deficiency |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616801 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | not yet validated |
| ICD-11 | LD90.Y | NTBT | attributed | not yet validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:371364Hypotonia-speech impairment-severe cognitive delay syndrome
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 |
|---|---|---|---|---|---|---|---|---|
| UNC80 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:26582 | ENSG00000144406 | 612636 | 2q34 | unc-80 subunit of NALCN channel complex | 26708751[PMID]_26708753[PMID]_26545877[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.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/700333
- This record as JSON: /data/d/700333.json