ORPHA:457351
Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
Synonyms: Microcephaly-intellectual disability-sensorineural deafness-epilepsy-abnormal muscle tone syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare genetic disease characterized by microcephaly, global developmental delay, intellectual disability, abnormal muscle tone, and sensorineural hearing impairment. Additional variable manifestations include epilepsy, cortical visual impairment, gastrointestinal disturbances, growth restriction, scoliosis, as well as immunodeficiency and thrombocytopenia. Brain imaging may show cerebral atrophy, thin corpus callosum, and hypomyelination.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome | Microcephaly-intellectual disability-sensorineural deafness-epilepsy-abnormal muscle tone syndrome |
| fr | Syndrome de microcéphalie-déficience intellectuelle-surdité neurosensorielle-épilepsie-tonus musculaire anormal | |
| de | Mikrozephalie-Intelligenzminderung-sensorineuraler Hörverlust-Epilepsie-abnormer Muskeltonus-Syndrom | NEDHSB · Neurologische Entwicklungsstörung mit Hörverlust, Krampfanfällen und Hirnanomalien |
| es | Síndrome de microcefalia-discapacidad intelectual-hipoacusia neurosensorial-epilepsia-trastorno del tono muscular | Síndrome de microcefalia-discapacidad intelectual-sordera neurosensorial-epilepsia-trastorno del tono muscular |
| it | Sindrome microcefalia-disabilità intellettiva-sordità neurosensoriale-epilessia-anomalie del tono muscolare | |
| nl | Microcefalie - intellectuele achterstand - sensorineuraal gehoorverlies - epilepsie - abnormale spiertonus-syndroom | Microcefalie - intellectuele achterstand - sensorineurale doofheid - epilepsie - abnormale spiertonus-syndroom |
| pt | Síndrome de microcefalia-perturbação do desenvolvimento intelectual-perda auditiva neurossensorial-epilepsia-anomalias do tónus muscular | Síndrome de microcefalia-perturbação do desenvolvimento intelectual-surdez neurossensorial-epilepsia-anomalias do tónus muscular |
| pl | Zespół małogłowia, niepełnosprawności intelektualnej, czuciowo-nerwowej utraty słuchu, padaczki i nieprawidłowego napięcia mięśniowego | Zespół małogłowia, niepełnosprawności intelektualnej, głuchoty czuciowo-nerwowej, padaczki i nieprawidłowego napięcia mięśniowego |
| cs | Syndrom zahrnující mikrocefalii, mentální retardaci, senzorineurální ztrátu sluchu, epilepsii a abnormální svalový tonus | Syndrom zahrnující mikrocefalii, mentální retardaci, senzorineurální hluchotu, epilepsii a abnormální svalový tonus |
| uk | Синдром мікроцефалії-інтелектуальної недостатності-сенсоневральної приглухуватості-епілепсії- порушення мязового тонусу | Синдром мікроцефалії-інтелектуальної недостатності-сенсоневральної глухоти-епілепсії- порушення мязового тонусу |
| zh | 小头畸形-智力障碍-感音性听力障碍-癫痫-肌张力异常综合征 | 小头畸形-智力障碍-感音神经性耳聋-癫痫-异常肌张力综合征 |
| tr | Mikrosefali-zihinsel yetersizlik-sensörinöral işitme kaybı-epilepsi-anormal kas tonusu sendromu | Mikrosefali-zihinsel yetersizlik-sensörinöral sağırlık-epilepsi-anormal kas tonusu sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616577 | E | validated | |
| ICD-10 | Q02 | NTBT | attributed | validated |
| MONDO | 0014698 | E | validated | |
| UMLS | C4225276 | 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 (4):
- ORPHA:522508Rare genetic ophthalmic disorder with cortical involvement
rare genetic diseases - ORPHA:519343Rare ophthalmic disorder with cortical involvement
rare ophthalmic disorders - ORPHA:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| AFG2A | Disease-causing germline mutation(s) in | Assessed | HGNC:18119 | ENSG00000145375 | 613940 | 4q28.1 | AAA ATPase AFG2A | 26299366[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 14 cases | Worldwide | Case(s) | Validated | 26299366[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26299366[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.
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HPO phenotypes
50 annotations · validated 2019-12-12| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002353 | EEG abnormality | |
| HP:0001263 | Global developmental delay | |
| HP:0000252 | Microcephaly | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0000505 | Visual impairment | |
| Frequent (79-30%) | ||
| HP:0012443 | Abnormality of brain morphology | |
| HP:0001344 | Absent speech | |
| HP:0000729 | Autistic behavior | |
| HP:0002069 | Bilateral tonic-clonic seizure | |
| HP:0006808 | Cerebral hypomyelination | |
| HP:0100704 | Cerebral visual impairment | |
| HP:0008947 | Floppy infant | |
| HP:0002123 | Generalized myoclonic seizure | |
| HP:0002121 | Generalized non-motor (absence) seizure | |
| HP:0002540 | Inability to walk | |
| HP:0002342 | Intellectual disability, moderate | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0000817 | Reduced eye contact | |
| HP:0001250 | Seizure | |
| HP:0006863 | Severe expressive language delay | |
| HP:0011352 | Severe receptive language delay | |
| HP:0001257 | Spasticity | |
| Occasional (29-5%) | ||
| HP:0012444 | Brain atrophy | |
| HP:0011229 | Broad eyebrow | |
| HP:0002120 | Cerebral cortical atrophy | |
| HP:0002019 | Constipation | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0011290 | EEG with frontal sharp slow waves | |
| HP:0002283 | Global brain atrophy | |
| HP:0010838 | High nonceruloplasmin-bound serum copper | |
| HP:0002553 | Highly arched eyebrow | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0002521 | Hypsarrhythmia | |
| HP:0002721 | Immunodeficiency | |
| HP:0012469 | Infantile spasms | |
| HP:0002509 | Limb hypertonia | |
| HP:0003189 | Long nose | |
| HP:0001319 | Neonatal hypotonia | |
| HP:0011451 | Primary microcephaly | |
| HP:0000278 | Retrognathia | |
| HP:0001873 | Thrombocytopenia | |
| HP:0000430 | Underdeveloped nasal alae | |
| Very rare (<4-1%) | ||
| HP:0000733 | Abnormal repetitive mannerisms | |
| HP:0001631 | Atrial septal defect | |
| HP:0020049 | Exodeviation | |
| HP:0011471 | Gastrostomy tube feeding in infancy | |
| HP:0002451 | Limb dystonia | |
| HP:0004532 | Sacral hypertrichosis | |
| HP:0002650 | Scoliosis | |
| HP:0100716 | Self-injurious behavior | |
Run the differential on the 5 obligate / very frequent terms
Annotation source: 27683084[PMID]_26299366[PMID]_27246907[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/457351
- This record as JSON: /data/d/457351.json