ORPHA:687424

ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome due to 10p15.3 microdeletion

Synonyms: 10p15.3 microdeletion syndrome · Del(10)(p15.3) · Deletion 10p15.3

Orphadata ships no English definition for this code.

Names in Orphadata languages

9 of 12 languages

Lang	Name	Synonyms
en	ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome due to 10p15.3 microdeletion	10p15.3 microdeletion syndrome · Del(10)(p15.3) · Deletion 10p15.3
fr	Syndrome de retard du développement-retard de langage-épilepsie-troubles du comportement-dysmorphie craniofaciale dû à la microdélétion 10p15.3	Del(10)(p15.3) · Délétion 10p15.3 · Syndrome de microdélétion 10p15.3
de	Mikrodeletionssyndrom 10p15.3	Del(10)(p15.3) · Deletion 10p15.3
es	Síndrome de retraso psicomotor-retraso del habla-crisis-trastornos de conducta-dismorfia craneofacial asociado a ZMYND11 por microdeleción 10p15.3	Del(10)(p15.3) · Deleción 10p15.3 · Síndrome de microdeleción 10p15.3
it	10p15 deletion syndrome
nl	ZMYND11-gerelateerd ontwikkelingsachterstand - spraakachterstand - insulten - gedragsstoornissen - craniofaciale dysmorfie-syndroom door 10p15.3-microdeletie	10p15.3-microdeletiesyndroom · Del(10)(p15.3) · Deletie 10p15.3
pt	Síndrome perturbação do desenvolvimento-atraso na fala-convulsões-anomalias comportamentais-dismorfia craniofacial ZMYND11-relacionada por microdeleção 10p15.3	Del(10)(p15.3) · Deleção 10p15.3 · Síndrome de microdeleção 10p15.3
pl	Związany ze ZMYND-11 zespół z opóźnieniem rozwoju i mowy, drgawkami, zaburzeniami zachowania i dysmorfią twarzoczaszki spowodowany mikrodelecją 10p15.3	= en
cs	Syndrom mikrodelece 10p15	= en

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	616083	NTBT		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 (2):

ORPHA:1580Distal deletion 10p syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
ORPHA:694304ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism 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
ZMYND11	Role in the phenotype of	Assessed	HGNC:16966	ENSG00000015171	608668	10p15.3	zinc finger MYND-type containing 11	25281490[PMID]_22847950[PMID]

0 records

No prevalence record in this release.

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