ORPHA:700336
Hypotonia-speech impairment-severe cognitive delay syndrome due to NALCN 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 NALCN deficiency | |
| fr | Syndrome d'hypotonie-trouble sévère du langage-retard cognitif sévère par déficit en NALCN | |
| de | Hypotonie-Sprachstörung-schwere kognitive Entwicklungsverzögerung-Syndrom, NALCN-assoziiert | IHPRF1 · Infantile Hypotonie mit psychomotorischer Entwicklungsverzögerung und charakteristischem Gesichtsausdruck 1 |
| es | Síndrome de hipotonía-trastorno del habla-retraso cognitivo grave por deficiencia de NALCN | |
| it | Sindrome ipotonia-deficit del linguaggio-grave ritardo cognitivo da deficit di NALCN | |
| nl | Hypotonie - spraakstoornis - ernstige cognitieve achterstand-syndroom door NALCN-deficiëntie | |
| pt | Hypotonia-speech impairment-severe cognitive delay syndrome due to NALCN deficiency | |
| pl | Hypotonia-speech impairment-severe cognitive delay syndrome due to NALCN deficiency | |
| cs | Hypotonia-speech impairment-severe cognitive delay syndrome due to NALCN deficiency |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615419 | 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 |
|---|---|---|---|---|---|---|---|---|
| NALCN | Disease-causing germline mutation(s) in | Assessed | HGNC:19082 | ENSG00000102452 | 611549 | 13q32.3-q33.1 | sodium leak channel, non-selective | 23749988[PMID]_24075186[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/700336
- This record as JSON: /data/d/700336.json