ORPHA:603699
Recessive KLHL7-related disorder
- Type
- Clinical group
- Group
- Group of disorders
- Inheritance
- Autosomal recessive
- Status
- active
A group of multiple congenital anomalies syndromes associated to <i>KLHL7</i> biallelic variants, ranging from a phenotype partially overlapping the Bohring-Opitz syndrome (BOS) to a phenotype overlapping the Crisponi/Cold-Induced Sweating syndrome (CS/CISS), with some patients presenting features of both conditions.
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Names in Orphadata languages
11 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Recessive KLHL7-related disorder | |
| fr | Maladie récessive associée à KLHL7 | |
| de | KLHL7-assoziierte Störung, autosomal-rezessive | |
| es | Trastorno recesivo asociado a KLHL7 | |
| it | Malattia recessiva correlata a KLHL7 | |
| nl | Recessieve KLHL7-gerelateerde aandoening | |
| pt | Doença KLHL7-relacionada recessiva | |
| pl | Recesywne zaburzenie związane z KLHL7 | |
| cs | Porucha související s KLHL7 | |
| uk | Рецесивне захворювання, повязане з KLHL7 | |
| tr | KLHL7-related disorder |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| UMLS | C5816693 | 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 (2):
- ORPHA:71859Rare genetic neurological disorder
rare genetic diseases - ORPHA:98006Rare neurologic disease
rare neurological diseases
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
0 recordsNo prevalence record in this release.
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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/603699
- This record as JSON: /data/d/603699.json