ORPHA:261647

Okihiro syndrome due to a point mutation

Synonyms: Duane-radial ray syndrome due to a point mutation

Orphadata ships no English definition for this code.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Okihiro syndrome due to a point mutation	Duane-radial ray syndrome due to a point mutation
fr	Syndrome d'Okihiro dû à une mutation ponctuelle	Syndrome de Duane-anomalie du rayon radial dû à une mutation ponctuelle
de	Okihiro-Syndrom durch Punktmutationen	Duane-Retraktionssyndrom durch Punktmutationen
es	Síndrome de Okihiro por una mutación puntual	Síndrome de Duane del rayo radial por una mutación puntual
it	Sindrome di Okihiro da mutazione puntiforme	Sindrome di Duane - anomalia del raggio radiale da mutazione puntiforme
nl	Syndroom van Okihiro als gevolg van een puntmutatie	Duane-radiale lijnsyndroom als gevolg van een puntmutatie
pt	Síndrome Okihiro por uma mutação pontual
pl	Zespół Okihiro z powodu mutacji punktowej	= en
cs	Okihirův syndrom způsobený bodovou mutací	Duanova anomálie s abnormalitami radiálního paprsku, způsobená bodovou mutací
uk	Синдром Окіхіро, зумовлений точковою мутацією	Синдром Дуейна-радіального променя, спричинений точковою мутацією
zh	点突变所致Okihiro综合征	点突变所致Duane-radial ray综合征
tr	Nokta mutasyonuna bağlı Okihiro sendromu	Bir nokta mutasyonuna bağlı Duane-radyal ışın sendromu

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	607323	NTBT		validated
ICD-10	Q87.8	NTBT	attributed	validated
ICD-11	LD2F.1Y	NTBT	attributed	validated
MONDO	0016864	E		validated
UMLS	C5679683	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:93293Okihiro syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases; rare abdominal surgical diseases; rare ophthalmic disorders; rare bone diseases; rare transplant-related disorders

No children.

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
SALL4	Disease-causing germline mutation(s) in	Assessed	HGNC:15924	ENSG00000101115	607343	20q13.2	spalt like transcription factor 4	16086360[PMID]_20301547[PMID]

0 records

No prevalence record in this release.

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