ORPHA:324761
Microcephalic primordial dwarfism
- Type
- Clinical group
- Group
- Group of disorders
- Status
- active
This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Microcephalic primordial dwarfism | |
| fr | Nanisme microcéphalique primordial | |
| de | Kleinwuchs, mikrozephaler primordialer | |
| es | Talla baja significativa primordial microcefálica | Enanismo primordial microcefálico |
| it | Nanismo primordiale microcefalico | |
| nl | Microcefale primordiale dwerggroei | |
| pt | Nanismo primordial microcefálico | |
| pl | Pierwotna karłowatość mikrocefaliczna | |
| cs | Mikrocefalické primordiální trpaslictví | |
| uk | Мікроцефальна первинна карликовість | |
| zh | 小头畸形原发性侏儒 | |
| tr | Mikrosefalik primordiyal cücelik |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 17950 | E | 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 (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
Children (15):
- ORPHA:319671Alazami syndrome
- ORPHA:658595DNMT3A-related microcephalic dwarfism
- ORPHA:572761DONSON-related microcephaly-short stature-limb abnormalities spectrum
- ORPHA:2554Ear-patella-short stature syndrome
- ORPHA:468631Microcephalic cortical malformations-short stature due to RTTN deficiency
- ORPHA:85172Microcephalic osteodysplastic dysplasia, Saul-Wilson type
- ORPHA:2637Microcephalic osteodysplastic primordial dwarfism type II
- ORPHA:2636Microcephalic osteodysplastic primordial dwarfism types I and III
- ORPHA:329228Microcephalic primordial dwarfism due to ZNF335 deficiency
- ORPHA:718037Microcephalic primordial dwarfism syndrome with combined immunodeficiency due to PRIM1 deficiency
- ORPHA:319675Microcephalic primordial dwarfism, Dauber type
- ORPHA:2617Microcephalic primordial dwarfism, Montreal type
- ORPHA:2643Microcephalic primordial dwarfism, Toriello type
- ORPHA:436182Microcephalic primordial dwarfism-insulin resistance syndrome
- ORPHA:808Seckel syndrome
4
Genes
0 directOrphanet records no gene directly on this code.
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/324761
- This record as JSON: /data/d/324761.json