ORPHA:662169

Phelan-McDermid syndrome due to 22q13.3 deletion

Synonyms: 22q13.3 deletion · Chromosome 22q13.3 deletion syndrome

Orphadata ships no English definition for this code.

Names in Orphadata languages

10 of 12 languages

Lang	Name	Synonyms
en	Phelan-McDermid syndrome due to 22q13.3 deletion	22q13.3 deletion · Chromosome 22q13.3 deletion syndrome
fr	Syndrome de Phelan-McDermid dû à une deletion 22q13.3	Délétion 22q13.3 · Monosomie 22q13.3
de	Phelan-McDermid-Syndrom durch 22q13-Deletion
es	Síndrome de Phelan-McDermid por deleción 22q13
it	Sindrome di Phelan-McDermid da delezione 22q13
nl	Syndroom van Phelan-McDermid door 22q13-deletie
pt	Síndrome Phelan-McDermid por deleção 22q13.3
pl	Zespół Phelan-McDermid wskutek delecji 22q13	= en
cs	Phelan-McDermidové syndrom způsobený delecí 22q13.3	Phelanové-McDermidové syndrom způsobený delecí 22q13.3
uk	Синдром Фелана-Макдерміда, зумовлений делецією 22q13.3	Делеція 22q13.3 · Синдром делеції хромосоми 22q13.3

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	606232	NTBT		validated
ICD-10	Q93.5	NTBT	attributed	validated
ICD-11	LD44.NY	NTBT	attributed	validated
MONDO	0971068	E		validated
UMLS	C1853490	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:262182Partial deletion of the long arm of chromosome 22 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
ORPHA:48652Phelan-McDermid syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases; rare skin diseases; rare circulatory system diseases

No children.

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
SHANK3	Role in the phenotype of	Assessed	HGNC:14294	ENSG00000251322	606230	22q13.33	SH3 and multiple ankyrin repeat domains 3	21841781[PMID]

0 records

No prevalence record in this release.

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