Microcephalic primordial dwarfism due to ZNF335 deficiency
Synonyms: Microcephalic primordial dwarfism, Walsh type
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
Microcephalic primordial dwarfism due to ZNF335 deficiency is characterized by severe antenatal microencephaly, simplified gyration, agenesis of the corpus callosum, absence of basal ganglia (very rare), pontocerebellar atrophy and involvement of the white matter with secondary cerebral atrophy. Congenital cataract, choanal atresia, multiple arthrogryposis and spastic tetraparesis can occur.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Microcephalic primordial dwarfism due to ZNF335 deficiency | Microcephalic primordial dwarfism, Walsh type |
| fr | Nanisme primordial microcéphalique par déficit en ZNF335 | Nanisme primordial microcéphalique type Walsh |
| de | Kleinwuchs, mikrozephaler primordialer, duch ZNF335-Mangel | Mikrozephaler primordialer Kleinwuchs Typ Walsh |
| es | Talla baja significativa primordial microcefálica por deficiencia de ZNF335 | Enanismo primordial microcefálico por deficiencia de ZNF335 · Enanismo primordial microcefálico tipo Walsh |
| it | Nanismo primordiale microcefalico da deficit di ZNF335 | Nanismo primordiale microcefalico, tipo Walsh |
| nl | Microcefale primordiale dwerggroei door ZNF335-deficiëntie | Microcefale primordiale dwerggroei, Walsh-type |
| pt | Nanismo primordial microcefálico por deficiência de ZNF335 | Nanismo primordial microcefálico, tipo Walsh |
| pl | Pierwotna karłowatość mikrocefaliczna z powodu ZNF335 | Pierwotna karłowatość mikrocefaliczna, typ Walsha |
| cs | Mikrocefalické primordiální trpaslictví způsobené ZNF335 deficitem | Mikrocefalické primordiální trpaslictví, Walshův typ |
| uk | Мікроцефальна первинна карликовість, зумовлена дефіцитом ZNF335 | Мікроцефальна первинна карликовість, тип Уолша |
| zh | ZNF335基因缺陷所致原始性小头畸形侏儒症 | Walsh型原始性小头畸形侏儒症 |
| tr | ZNF335 eksikliğine bağlı mikrosefalik primordiyal cücelik | Mikrosefalik primordiyal cücelik, Walsh tipi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615095 | E | validated | |
| ICD-10 | Q87.1 | NTBT | attributed | validated |
| ICD-11 | LD24.D | NTBT | attributed | validated |
| MONDO | 0014043 | E | validated | |
| UMLS | C4510378 | 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 (1):
- ORPHA:324761Microcephalic primordial dwarfism
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ZNF335 | Disease-causing germline mutation(s) in | Assessed | HGNC:15807 | ENSG00000198026 | 610827 | 20q13.12 | zinc finger protein 335 | 23178126[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 10 cases | Worldwide | Case(s) | Validated | 23178126[PMID]_27540107[PMID]_29652087[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_29652087[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
9 annotations · validated 2017-02-21| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001317 | Abnormal cerebellum morphology | |
| HP:0002060 | Abnormal cerebral morphology | |
| HP:0012757 | Abnormal neuron morphology | |
| HP:0002538 | Abnormality of the cerebral cortex | |
| HP:0012444 | Brain atrophy | |
| HP:0000252 | Microcephaly | |
| HP:0009879 | Simplified gyral pattern | |
| HP:0002472 | Small cerebral cortex | |
| HP:0002119 | Ventriculomegaly | |
Run the differential on the 9 obligate / very frequent terms
Annotation source: 23178126[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/329228
- This record as JSON: /data/d/329228.json