ORPHA:714407

Developmental delay-macrocephaly-corpus callosum dysgenesis-intellectual disability syndrome due to NFIB mutation

Orphadata ships no English definition for this code.

Names in Orphadata languages

9 of 12 languages

Lang	Name	Synonyms
en	Developmental delay-macrocephaly-corpus callosum dysgenesis-intellectual disability syndrome due to NFIB mutation
fr	Syndrome de retard de développement-macrocéphalie-dysgénésie du corps calleux-déficience intellectuelle due à une mutation de NFIB
de	Erworbene Makrozephalie mit beeinträchtigter intellektueller Entwicklung durch NFIB-Mutation	MACID
es	Síndrome de retraso del desarrollo-macrocefalia-disgenesia del cuerpo calloso-discapacidad intelectual por una mutación en NFIB
it	Sindrome ritardo dello sviluppo-macrocefalia-disgenesia del corpo calloso-disabilità intellettiva da mutazione di NFIB
nl	Ontwikkelingsachterstand - macrocefalie - dysgenesie van corpus callosum - intellectuele achterstand-syndroom door NFIB-mutatie
pt	Developmental delay-macrocephaly-corpus callosum dysgenesis-intellectual disability syndrome due to NFIB mutation
pl	Zespół opóźnienia rozwoju, makrocefalii, dysgenezji spoidła wielkiego i niepełnosprawności intelektualnej spowodowany mutacją NFIB
cs	Developmental delay-macrocephaly-corpus callosum dysgenesis-intellectual disability syndrome due to NFIB mutation

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	618286	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 (1):

No children.

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
NFIB	Disease-causing germline mutation(s) in	Assessed	HGNC:7785	ENSG00000147862	600728	9p23-p22.3	nuclear factor I B	30388402[PMID]_36756855[PMID]

0 records

No prevalence record in this release.

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