ORPHA:672985

Craniosynostosis-skeletal and cerebellar anomalies-learning disabilities syndrome

Synonyms: ZIC1-related syndromic craniosynostosis

Orphadata ships no English definition for this code.

Names in Orphadata languages

10 of 12 languages

Lang	Name	Synonyms
en	Craniosynostosis-skeletal and cerebellar anomalies-learning disabilities syndrome	ZIC1-related syndromic craniosynostosis
fr	Syndrome de craniosynostose-anomalies squelettiques et cérébelleuses-difficulté d'apprentissage
de	Kraniosynostose-Skelett- und Kleinhirnanomalien-Lernschwierigkeiten-Syndrom	ZIC1-assoziierte syndromale Kraniosynostose
es	Síndrome de craneosinostosis-anomalías esqueléticas y cerebelosas-trastornos del aprendizaje	Craneosinostosis sindrómica asociada al gen ZIC1
it	Sindrome craniosinostosi-anomalie scheletriche e cerebellari-difficoltà di apprendimento	Craniosinostosi sindromica correlata a ZIC1
nl	Craniosynostose - skeletale en cerebellaire anomalieën - leerstoornissen-syndroom	ZIC1-gerelateerde syndromale craniosynostose
pt	Síndrome de craniossinostose-anomalias esqueléticas e cerebelares-dificuldades de aprendizagem	Craniossinostose sindrómica ZIC1-relacionada
pl	Craniosynostosis-skeletal and cerebellar anomalies-learning disabilities syndrome	= en
cs	Syndrom zahrnující kraniosynostózu, anomálie skeletu a mozečku a poruchy učení	= en
uk	Синдром краніосиностозу-скелетних та мозочкових аномаліїй-розумової відсталості	Синдром краніосиностозу, повязаний з ZIC1

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	618736	E		validated
ICD-10	Q87.0	NTBT	attributed	validated
MONDO	0014705	E		validated
MONDO	14705	E		validated
UMLS	C5925086	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:139393Syndromic craniosynostosis
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases

No children.

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
ZIC1	Disease-causing germline mutation(s) in	Assessed	HGNC:12872	ENSG00000152977	600470	3q24	Zic family zinc finger 1	30391508[PMID]

0 records

No prevalence record in this release.

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