Microlissencephaly
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Microlissencephaly describes a heterogenous group of a rare cortical malformations characterized by lissencephaly in combination with severe congenital microcephaly, presenting with spasticity, severe developmental delay, and seizures and with survival varying from days to years.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Microlissencephaly | |
| fr | Microlissencéphalie | |
| de | Mikrolissenzephalie | |
| es | Microlisencefalia | |
| it | Microlissencefalia | |
| nl | Microlissencefalie | |
| pt | Microlisencefalia | |
| pl | Mikrolizencefalia | |
| cs | Mikrolisencefalie | |
| uk | Мікролісенцефалія | |
| zh | 小头畸形 | |
| tr | Mikrolizensefali |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614019 | BTNT | validated | |
| OMIM | 616212 | BTNT | validated | |
| ICD-10 | Q04.3 | NTBT | inclusion | validated |
| ICD-11 | LD20.1 | NTBT | index | validated |
| MONDO | 0015204 | E | validated | |
| UMLS | C1956147 | 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:269573Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature
rare genetic diseases - ORPHA:48471Lissencephaly
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases - ORPHA:199639Syndrome with corpus callosum agenesis/dysgenesis as a major feature
rare developmental anomalies during embryogenesis; rare neurological diseases
Codes that Orphanet moved or referred to this one:
- ORPHA:101052OBSOLETE: Microlissencephaly type B referred to · inactive
Genes
0 direct · 3 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| KATNB1 | ORPHA:89844Lissencephaly syndrome, Norman-Roberts type | Disease-causing germline mutation(s) in | Assessed | HGNC:6217 | ENSG00000140854 | 602703 | 16q21 | katanin regulatory subunit B1 | 25521378[PMID]_25521379[PMID] |
| NDE1 | ORPHA:89844Lissencephaly syndrome, Norman-Roberts type | Disease-causing germline mutation(s) in | Assessed | HGNC:17619 | ENSG00000072864 | 609449 | 16p13.11 | nudE neurodevelopment protein 1 | 21529751[PMID]_21529752[PMID] |
| RELN | ORPHA:89844Lissencephaly syndrome, Norman-Roberts type | Disease-causing germline mutation(s) in | Assessed | HGNC:9957 | ENSG00000189056 | 600514 | 7q22.1 | reelin | 10973257[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
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
22 annotations · validated 2021-08-25| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0000252 | Microcephaly | |
| Very frequent (99-80%) | ||
| HP:0025190 | Bilateral tonic-clonic seizure with generalized onset | |
| HP:0007266 | Cerebral dysmyelination | |
| HP:0000750 | Delayed speech and language development | |
| HP:0001263 | Global developmental delay | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0007190 | Neuronal loss in the cerebral cortex | |
| Frequent (79-30%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0002120 | Cerebral cortical atrophy | |
| HP:0001347 | Hyperreflexia | |
| HP:0001276 | Hypertonia | |
| HP:0001339 | Lissencephaly | |
| HP:0006891 | Thick cerebral cortex | |
| HP:0002119 | Ventriculomegaly | |
| Occasional (29-5%) | ||
| HP:0001272 | Cerebellar atrophy | |
| HP:0001302 | Pachygyria | |
| HP:0007165 | Periventricular heterotopia | |
| HP:0002090 | Pneumonia | |
| HP:0002126 | Polymicrogyria | |
| HP:0009879 | Simplified gyral pattern | |
| HP:0032391 | Subcortical heterotopia | |
Run the differential on the 8 obligate / very frequent terms
Annotation source: 33026328[PMID]_31586943[PMID]_25521378[PMID]_30637988[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1083
- This record as JSON: /data/d/1083.json