ORPHA:652514

Cleft palate-congenital heart defect-intellectual disability syndrome due to MEIS2 mutation

Orphadata ships no English definition for this code.

Names in Orphadata languages

10 of 12 languages

Lang	Name	Synonyms
en	Cleft palate-congenital heart defect-intellectual disability syndrome due to MEIS2 mutation
fr	Syndrome de déficience intellectuelle-cardiopathie congénitale-fente palatine dû à une mutation de MEIS2
de	Gaumenspalte-kongenitaler Herzfehler-Intelligenzminderung-Syndrom durch MEIS2-Genmutation	Syndrom der Gaumenspalte mit angeborenem Herzfehler und Intelligenzminderung durch MEIS2-Genmutation
es	Síndrome de paladar hendido-defecto cardíaco congénito-discapacidad intelectual por mutación del gen MEIS2
it	Sindrome palatoschisi-cardiopatia congenita-disabilità intellettiva da mutazione di MEIS2
nl	Gespleten gehemelte - congenitaal hartdefect - intellectuele achterstand-syndroom door MEIS2-mutatie
pt	Síndrome de fenda palatina-anomalia cardíaca congénita-perturbação do desenvolvimento intelectual por mutação em MEIS2
pl	Zespół z rozszczepem podniebienia i niepełnosprawnością intelektualną spowodowany mutacją MEIS2
cs	Syndrom zahrnující rozštěp patra, vrozenou srdeční vadu a mentální retardaci způsobený mutací MEIS2
uk	Синдром розщілини піднебіння-вродженої вади серця-інтелектуальної недостатності, зумевлений мутацією MEIS2

qualifier = Orphanet mapping relation

Source	Code	Qualifier	Validation
OMIM	600987	E	validated
MONDO	0958273	E	validated
UMLS	C5925117	E	validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Preferential parent (Orphanet linearisation):

Parents in the classifications (1):

ORPHA:652519Cleft palate-congenital heart defect-intellectual disability syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases

No children.

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
MEIS2	Disease-causing germline mutation(s) in	Assessed	HGNC:7001	ENSG00000134138	601740	15q14	Meis homeobox 2	30055086[PMID]

0 records

No prevalence record in this release.

Orphanet has no HPO annotation for this code in this release.