Autosomal dominant primary microcephaly
- Type
- Etiological subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
A rare, genetic, non-syndromic, developmental defect during embryogenesis malformation syndrome characterized by a congenital, non-progressive, occipitofrontal head circumference that is 2 or more standard deviations below the mean for age, gender and ethnicity which is associated with normal brain architecture and uncomplicated by other abnormalities. Borderline to moderate intellectual disability, as well as early psychomotor delay, may or may not be associated.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal dominant primary microcephaly | |
| fr | Microcéphalie primaire autosomique dominante | |
| de | Mikrozephalie, primäre, autosomal-dominante | |
| es | Microcefalia primaria autosómica dominante | |
| it | Microcefalia primitiva autosomica dominante | |
| nl | Autosomaal dominante primaire microcefalie | |
| pt | Microcefalia primária autossómica dominante | |
| pl | Autosomalnie dominujące małogłowie | |
| cs | Autozomálně dominantní mikrocefalie | |
| uk | Аутосомно-домінантна первинна мікроцефалія | |
| zh | 常染色体显性遗传原发性小头畸形 | |
| tr | Otozomal dominant primer mikrosefali |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 156580 | E | validated | |
| OMIM | 616311 | BTNT | validated | |
| OMIM | 617520 | BTNT | validated | |
| OMIM | 619179 | BTNT | validated | |
| OMIM | 619180 | BTNT | validated | |
| ICD-10 | Q02 | NTBT | attributed | validated |
| ICD-11 | LA05.0 | NTBT | index | validated |
| MONDO | 0007988 | E | validated | |
| MeSH | C537323 | E | validated | |
| UMLS | C4755316 | E | validated | |
| GARD | 3605 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:199642Isolated congenital microcephaly
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases
No children.
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| DPP6 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:3010 | ENSG00000130226 | 126141 | 7q36.2 | dipeptidyl peptidase like 6 | 23832105[PMID] |
| LMNB1 | Disease-causing germline mutation(s) in | Assessed | HGNC:6637 | ENSG00000113368 | 150340 | 5q23.2 | lamin B1 | 32910914[PMID] |
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
6 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000252 | Microcephaly | |
| HP:0004322 | Short stature | |
| HP:0009804 | Tooth agenesis | |
| Frequent (79-30%) | ||
| HP:0001137 | Alternating esotropia | |
| Occasional (29-5%) | ||
| HP:0000666 | Horizontal nystagmus | |
| HP:0000411 | Protruding ear | |
Run the differential on the 3 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2514
- This record as JSON: /data/d/2514.json