ORPHA:261638

Okihiro syndrome due to 20q13 microdeletion

Synonyms: Duane-radial ray syndrome due to monosomy 20q13 · Okihiro syndrome due to del(20)(q13) · Okihiro syndrome due to monosomy 20q13

Type: Etiological subtype
Group: Subtype of disorder
Inheritance: Not applicable
Status: active

Orphadata ships no English definition for this code.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Okihiro syndrome due to 20q13 microdeletion	Duane-radial ray syndrome due to monosomy 20q13 · Okihiro syndrome due to del(20)(q13) · Okihiro syndrome due to monosomy 20q13
fr	Syndrome d'Okihiro dû à une microdélétion 20q13	Syndrome d'Okihiro dû à une del(20)(q13) · Syndrome d'Okihiro dû à une monosomie 20q13 · Syndrome de Duane-anomalie du rayon radial dû à une monosomie 20q13
de	Okihiro-Syndrom durch Monosomie 20q13	Duane-Retraktionssyndrom durch Monosomie 20q13 · Okihiro-Syndrom bei Del(20)(q13)
es	Síndrome de Okihiro por microdeleción 20q13	Síndrome de Duane-anomalía del rayo radial por monosomía 20q13 · Síndrome de Okihiro por del(20)(q13) · Síndrome de Okihiro por monosomía 20q13
it	Sindrome di Okihiro da microdelezione 20q13	Sindrome di Duane - anomalia del raggio radiale da monosomia 20q13 · Sindrome di Okihiro da del(20)(q13) · Sindrome di Okihiro da monosomia 20q13
nl	Syndroom van Okihiro door 20q13-microdeletie	Duane-'radial ray'-syndroom door monosomie 20q13 · Syndroom van Okihiro door del(20)(q13) · Syndroom van Okihiro door monosomie 20q13
pt	Síndrome Okihiro por microdeleção 20q13	Síndrome Okihiro por monossomia 20q13
pl	Zespół Okihiro z powodu mikrodelecji 20q13	Zespół Okihiro z powodu del(20)(q13) · Zespół Okihiro z powodu monosomii 20q13
cs	Okihirův syndrom způsobený 20q13 mikrodelecí	Duanova anomálie s abnormalitami radiálního paprsku, způsobená monozomií 20q13 · Okihirův syndrom způsobený del(20)(q13) · Okihirův syndrom způsobený monozomií 20q13
uk	Синдром Окіхіро, зумовлений мікроделецією 20q13	Синдром Дуейна-радіального променя, зумовлений моносомією 20q13 · Синдром Окіхіро через дефект del(20)(q13) · Синдром Окіхіро внаслідок моносомії 20q13
zh	20q13微缺失所致Okihiro综合征	20q13单体所致Duane-radial ray综合征
tr	20q13 mikrodelesyonuna bağlı Okihiro sendromu	Del (20) (q13) nedeniyle Okihiro sendromu · Monozomi 20q13'e bağlı Okihiro sendromu · Monozomi 20q13'e bağlı Duane-radyal ışın sendromu

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	607323	NTBT		validated
ICD-10	Q87.8	NTBT	attributed	validated
ICD-11	LD44.L0	NTBT	index	validated
MONDO	0016863	E		validated
UMLS	C5679682	E		validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Classification

Preferential parent (Orphanet linearisation):

ORPHA:93890Rare developmental defect during embryogenesis

Parents in the classifications (2):

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
ORPHA:262164Partial deletion of the long arm of chromosome 20 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases

No children.

Genes

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
SALL4	Role in the phenotype of	Assessed	HGNC:15924	ENSG00000101115	607343	20q13.2	spalt like transcription factor 4	16086360[PMID]_20301547[PMID]

Prevalence and incidence

1 record

Type	Class	Value	Area	Qualification	Validation	Source
Point prevalence	Unknown	—	Worldwide	Class only	Not yet 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.

HPO phenotypes

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

Sources for this card

Orphanet page: orpha.net/en/disease/detail/261638
This record as JSON: /data/d/261638.json