ORPHA:477673
Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- active
A rare genetic neurological disorder characterized by postnatal microcephaly, hypotonia during infancy followed in most cases by progressive spasticity mainly affecting the lower limbs, and spastic diplegia or paraplegia, intellectual disability, delayed or absent speech, and dysarthria. Seizures and mildly dysmorphic features have been described in some patients.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome | |
| fr | Syndrome de microcéphalie postnatale-hypotonie infantile-diplégie spastique-dysarthrie-déficience intellectuelle | |
| de | Postnatale Microzephalie-infantile Hypotonie-spastische Diplegie-Dysarthrie-Intelligenzminderung-Syndrom | |
| es | Síndrome de microcefalia postnatal-hipotonía infantil-diplejía espástica-disartria-discapacidad intelectual | |
| it | Sindrome microcefalia postnatale-ipotonia neonatale-diplegia spastica-disartria-disabilità intellettiva | |
| nl | Postnatale microcefalie - infantiele hypotonie - spastische diplegie - dysartrie - intellectuele achterstand-syndroom | |
| pt | Síndrome de microcefalia pós-natal-hipotonia da infância-diplegia espástica-disartria-perturbação do desenvolvimento intelectual | |
| pl | Zespół mikrocefalii postnatalnej, hipotonii niemowlęcej, diplegii spastycznej, dyzartrii i niepełnosprawności intelektualnej | |
| cs | Syndrom postnatální mikrocefalie, infantilní hypotonie, spastické diplegie, dysartrie a intelektové nedostatečnosti | |
| uk | Синдром постнатальної мікроцефалії-інфантильної гіпотонії-спастичної диплегії-дизартрії- інтелектуальної недостатності | |
| zh | 出生后小头畸形-小儿肌张力低下-痉挛性截瘫-构音障碍-智力障碍综合征 | |
| tr | Doğum sonrası mikrosefali-infantil hipotoni-spastik dipleji-dizartri-zihinsel yetersizlik sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616281 | E | validated | |
| ICD-10 | G11.4 | NTBT | attributed | validated |
| MONDO | 0014567 | E | validated | |
| UMLS | C5567787 | 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 (2):
- ORPHA:100981Autosomal recessive complex spastic paraplegia
rare genetic diseases; rare neurological diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GPT2 | Disease-causing germline mutation(s) in | Assessed | HGNC:18062 | ENSG00000166123 | 138210 | 16q11.2 | glutamic--pyruvic transaminase 2 | 25758935[PMID]_27601654[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 17 cases | Worldwide | Case(s) | Validated | 25758935[PMID]_27601654[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25758935[PMID]_27601654[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
22 annotations · validated 2018-10-22| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0003487 | Babinski sign | |
| HP:0002136 | Broad-based gait | |
| HP:0000750 | Delayed speech and language development | |
| HP:0002307 | Drooling | |
| HP:0001260 | Dysarthria | |
| HP:0001288 | Gait disturbance | |
| HP:0001263 | Global developmental delay | |
| HP:0001347 | Hyperreflexia | |
| HP:0000601 | Hypotelorism | |
| HP:0001249 | Intellectual disability | |
| HP:0000369 | Low-set ears | |
| HP:0000252 | Microcephaly | |
| HP:0011470 | Nasogastric tube feeding in infancy | |
| HP:0006829 | Severe muscular hypotonia | |
| HP:0001258 | Spastic paraplegia | |
| Occasional (29-5%) | ||
| HP:0011400 | Abnormal CNS myelination | |
| HP:0001508 | Failure to thrive | |
| HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0000341 | Narrow forehead | |
| HP:0001250 | Seizure | |
| HP:0001337 | Tremor | |
Annotation source: 27601654[PMID]_25758935[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/477673
- This record as JSON: /data/d/477673.json