ORPHA:720321

Developmental delay-blepharophimosis-telecanthus-facial dysmorphism-intellectual disability syndrome

Synonyms: TLK2-related neurodevelopmental disorder

Orphadata ships no English definition for this code.

Names in Orphadata languages

9 of 12 languages

Lang	Name	Synonyms
en	Developmental delay-blepharophimosis-telecanthus-facial dysmorphism-intellectual disability syndrome	TLK2-related neurodevelopmental disorder
fr	Syndrome de retard du développement-blépharophimosis-télécanthus-dysmorphie faciale-déficience intellectuelle	Trouble du neurodéveloppement associé à TLK2
de	Entwicklungsverzögerung-Blepharophimose-Telekanthus-Gesichtsdysmorphie-Intelligenzminderung-Syndrom	TLK2-assoziierte neurologische Entwicklungsstörung
es	Síndrome de retraso del desarrollo-blefarofimosis-telecanto-dismorfia facial-discapacidad intelectual	Trastorno del neurodesarrollo asociado a TLK2
it	Sindrome ritardo dello sviluppo-blefarofimosi-telecanto-dismorfismi facciali-disabilità intellettiva	Malattia del neurosviluppo correlata a TLK2
nl	Ontwikkelingsachterstand - blefarofimose - telecanthus - faciale dysmorfie - intellectuele achterstand-syndroom	TLK2-gerelateerde neurologische ontwikkelingsstoornis
pt	Developmental delay-blepharophimosis-telecanthus-facial dysmorphism-intellectual disability syndrome
pl	Developmental delay-blepharophimosis-telecanthus-facial dysmorphism-intellectual disability syndrome	= en
cs	Developmental delay-blepharophimosis-telecanthus-facial dysmorphism-intellectual disability syndrome	= en

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	618050	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 (2):

ORPHA:293642Blepharophimosis-intellectual disability syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases; rare ophthalmic disorders
ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases

No children.

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
TLK2	Disease-causing germline mutation(s) in	Assessed	HGNC:11842	ENSG00000146872	608439	17q23.2	tousled like kinase 2	29861108[PMID]_39538191[PMID]

1 record

Type	Class	Value	Area	Qualification	Validation	Source
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.

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