ORPHA:397933
Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome
Synonyms: IQSEC2-related syndromic intellectual disability
- Type
- Disease
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, genetic, syndromic intellectual disability characterized by severe intellectual disability, non-inherited, progressive, post-natal microcephaly, hypotonia, hyperkinesia, absence of speech, strabismus, and midline stereotypic hand movements (e.g. hand washing/rubbing). Additional features include developmental delay, seizures and behavioral disturbances, such as self injury and unexplained crying episodes.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome | IQSEC2-related syndromic intellectual disability |
| fr | Syndrome de déficience intellectuelle sévère-microcéphalie postnatale progressive-stéréotypies manuelles sur la ligne médiane | Déficience intellectuelle syndromique associée à IQSEC2 |
| de | Schwere Intelligenzminderung-progressive postnatale Mikrozephalie-stereotype Mittellinien-Handbewegungen-Syndrom | Intelligenzminderung, syndromale, IQSEC2-assoziierte |
| es | Síndrome de discapacidad intelectual grave-microcefalia postnatal progresiva-movimientos estereotipados de las manos en la línea media | Discapacidad intelectual sindrómica asociada a IQSEC2 |
| it | Sindrome da disabilità intellettiva grave, microcefalia postnatale progressiva, movimenti stereotipati delle mani lungo la linea mediana | |
| nl | Ernstige intellectuele achterstand - progressieve postnatale microcefalie - stereotiepe handbewegingen op de middellijn-syndroom | IQSEC2-gerelateerde syndromale intellectuele achterstand |
| pt | Síndrome de perturbação do desenvolvimento intelectual grave-microcefalia pós-natal progressiva-movimentos estereotipados das mãos na linha média | |
| pl | Zespół ciężkiej niepełnosprawności intelektualnej, postępującego małogłowia postnatalnego i stereotypowych ruchów dłoni w linii pośrodkowej ciała | = en |
| cs | Syndrom zahrnující těžkou mentální retardaci, progresivní postnatální mikrocefalii a stereotypní pohyby rukou ve střední čáře | = en |
| uk | Синдром важкої розумової відсталості-прогресуючої постнатальної мікроцефалії-стереотипних рухів рук середньої лінії | Синдромальна інтелектуальна недостатність, повязана з IQSEC2 |
| zh | 重度智力障碍-进行性产后小头畸形-中线刻板手部动作综合征 | IQSEC2相关综合征性智力障碍 |
| tr | Ağır zihinsel yetersizlik-ilerleyici doğum sonrası mikrosefali-orta hat stereotipik el hareketleri sendromu | IQSEC2-ilişkili sendromik zihinsel yetersizlik |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 301164 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0018347 | E | validated | |
| MONDO | 10656 | E | validated | |
| MONDO | 18347 | E | validated | |
| UMLS | C2931498 | E | validated | |
| GARD | 13221 | 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:166472Monogenic disease with epilepsy
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 |
|---|---|---|---|---|---|---|---|---|
| IQSEC2 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:29059 | ENSG00000124313 | 300522 | Xp11.22 | IQ motif and Sec7 domain ArfGEF 2 | 23674175[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 23674175[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_23674175[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
17 annotations · validated 2019-09-10| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0000708 | Atypical behavior | |
| HP:0002376 | Developmental regression | |
| HP:0001263 | Global developmental delay | |
| HP:0001252 | Hypotonia | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0000253 | Progressive microcephaly | |
| HP:0012760 | Reduced social responsiveness | |
| HP:0001250 | Seizure | |
| HP:0012171 | Stereotypical hand wringing | |
| Occasional (29-5%) | ||
| HP:0001344 | Absent speech | |
| HP:0000666 | Horizontal nystagmus | |
| HP:0002487 | Hyperkinetic movements | |
| HP:0030215 | Inappropriate crying | |
| HP:0000400 | Macrotia | |
| HP:0000347 | Micrognathia | |
| HP:0100716 | Self-injurious behavior | |
| HP:0000486 | Strabismus | |
Annotation source: 28815955[PMID]_27010919[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/397933
- This record as JSON: /data/d/397933.json