Cataract-combined malonic and methylmalonic aciduria-intellectual disability syndrome
Synonyms: ZBTB11-related neurodevelopmental disorder
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by mild to profound intellectual disability, language and motor delays, bilateral congential/early-onset cataracts, combined malonic and methylmalonic aciduria and microcephaly. Movement disorders including ataxia, orofacial and limb dystonia, myoclonus and tremor have also been reported in the majority of the patients. Some patients may also present with facial dysmorphism including long face, hypertelorism and maxillary hyperplasia.
Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Cataract-combined malonic and methylmalonic aciduria-intellectual disability syndrome | ZBTB11-related neurodevelopmental disorder |
| fr | Syndrome de cataracte-acidémie combinée malonique et méthylmalonique-déficience intellectuelle | Trouble du neurodéveloppement associé à ZBTB11 |
| de | Katarakt-Kombinierte Malon- und Methylmalonsäureurie-Intelligenzminderung-Syndrom | Neurologische Entwicklungsstörung, ZBTB11-assoziierte |
| es | Síndrome de cataratas-aciduria malónica y metilmalónica combinada-discapacidad intelectual | Trastorno del neurodesarrollo asociado a ZBTB11 |
| it | Sindrome cataratta-aciduria malonica e metilmalonica combinata-disabilità intellettiva | Malattia del neurosviluppo correlata a ZBTB11 |
| nl | Cataract - gecombineerde malon- en methylmalonacidurie - intellectuele achterstand-syndroom | ZBTB11-gerelateerde neurologische ontwikkelingsstroonis |
| pt | Cataract-combined malonic and methylmalonic aciduria-intellectual disability syndrome | |
| pl | Cataract-combined malonic and methylmalonic aciduria-intellectual disability syndrome | = en |
| cs | Cataract-combined malonic and methylmalonic aciduria-intellectual disability syndrome | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q87.8 | NTBT | attributed | not yet validated |
| ICD-11 | LD90.Y | NTBT | attributed | not yet 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 (4):
- ORPHA:79163Classic organic aciduria
rare inborn errors of metabolism; rare genetic diseases - ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:98641Syndromic cataract
rare ophthalmic disorders
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 29 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | 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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/699835
- This record as JSON: /data/d/699835.json