ORPHA:726684
Global developmental delay-urogenital anomalies-cerebellar atrophy-cleft palate syndrome
Synonyms: KAT5-related neurodevelopmental disorder
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Status
- active
Orphadata ships no English definition for this code.
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Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Global developmental delay-urogenital anomalies-cerebellar atrophy-cleft palate syndrome | KAT5-related neurodevelopmental disorder |
| fr | Syndrome de retard global de développement-anomalies urogénitales-atrophie cérébelleuse-fente du palais | Trouble du neurodéveloppement associé à KAT5 |
| de | Globale Entwicklungsverzögerung-urogenitale Anomalien-Kleinhirnatrophie-Gaumenspalte-Syndrom | KAT5-assoziierte neurologische Entwicklungsstörung |
| es | Síndrome de retraso global del desarrollo-anomalías urogenitales-atrofia cerebelosa-paladar hendido | Trastorno del neurodesarrollo asociado al gen KAT5 |
| it | Sindrome ritardo dello sviluppo globale-anomalie urogenitali-atrofia cerebellare-palatoschisi | Malattia del neurosviluppo correlata a KAT5 |
| nl | Algehele ontwikkelingsachterstand - urogenitale anomalieën - cerebellaire atrofie - gespleten gehemelte-syndroom | KAT5-gerelateerde neurologische ontwikkelingsstoornis |
| pt | Global developmental delay-urogenital anomalies-cerebellar atrophy-cleft palate syndrome | |
| pl | Global developmental delay-urogenital anomalies-cerebellar atrophy-cleft palate syndrome | = en |
| cs | Global developmental delay-urogenital anomalies-cerebellar atrophy-cleft palate syndrome | = en |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 619103 | 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 (7):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:269567Genetic syndrome with a cerebellar malformation as a major feature
rare genetic diseases - ORPHA:269573Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:269523Syndrome with a cerebellar malformation as a major feature
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:199639Syndrome with corpus callosum agenesis/dysgenesis as a major feature
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:165707Syndromic urogenital tract malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare urogenital diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| KAT5 | Disease-causing germline mutation(s) in | Assessed | HGNC:5275 | ENSG00000172977 | 601409 | 11q13.1 | lysine acetyltransferase 5 | 32822602[PMID] |
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Prevalence and incidence
0 recordsNo prevalence record in this release.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/726684
- This record as JSON: /data/d/726684.json