raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:254531

Temple syndrome due to paternal 14q32.2 hypomethylation

Type
Etiological subtype
Group
Subtype of disorder
Inheritance
Autosomal dominant, Not applicable
Age of onset
Infancy, Neonatal
Status
active

This disease is described under Temple syndrome

1

Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enTemple syndrome due to paternal 14q32.2 hypomethylation
frSyndrome de Temple lié à une hypométhylation paternelle 14q32.2
deTemple-Syndrom durch paternale 14q32.2-Hypomethylierung
esSíndrome de Temple por hipometilación en 14q32.2 del alelo paterno
itSindrome da ipometilazione paterna 14q32.2
nlSyndroom van Temple door paternale 14q32.2-hypomethylatie
ptSíndrome da hipometilação paterna 14q32.2
plZespół hipometylacji ojcowskiej 14q32.2
csSyndrom paternální hypomethylace 14q32.2
ukСиндром Темпла, зумовлений батьковим гіпометилюванням 14q32.2
zh父源染色体14q32.2低甲基化所致坦Temple合征
trPaternal 14q32.2 hipometilasyonuna bağlı tapınak sendromu
2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
OMIM616222NTBTvalidated
ICD-10Q87.8NTBTattributedvalidated
ICD-11LD2YNTBTattributedvalidated
MONDO0016782Evalidated
UMLSC5680721Evalidated

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

3

Classification

Preferential parent (Orphanet linearisation):

Parents in the classifications (1):

  • ORPHA:254516Temple syndrome
    rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases; rare endocrine diseases

No children.

4

Genes

3 direct
GeneAssociationStatusHGNCEnsemblOMIMLocusNameSource of validation
DLK1Role in the phenotype ofAssessedHGNC:2907ENSG0000018555917629014q32.2delta like non-canonical Notch ligand 118176563[PMID]
MEG3Role in the phenotype ofAssessedHGNC:14575ENSG0000021454860563614q32.2maternally expressed 318176563[PMID]_24801763[PMID]
RTL1Role in the phenotype ofAssessedHGNC:14665ENSG0000025465661189614q32.2retrotransposon Gag like 118176563[PMID]
5

Prevalence and incidence

2 records
TypeClassValueAreaQualificationValidationSource
Cases/families12 casesWorldwideCase(s)Validated28640239[PMID]_24891339[PMID]
Point prevalence<1 / 1 000 000—WorldwideClass onlyValidatedORPHANET_28640239[PMID]_24891339[PMID]

Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.

6

HPO phenotypes

28 annotations · validated 2020-10-22
HPOTerm (as annotated by Orphanet)Diagnostic
Very frequent (99-80%)
HP:0000750Delayed speech and language development
HP:0001252Hypotonia
HP:0001511Intrauterine growth retardation
HP:0001382Joint hypermobility
HP:0001270Motor delay
HP:0001773Short foot
HP:0200055Small hand
Frequent (79-30%)
HP:0011968Feeding difficulties
HP:0001513Obesity
HP:0008897Postnatal growth retardation
HP:0000826Precocious puberty
HP:0011220Prominent forehead
Occasional (29-5%)
HP:0000729Autistic behavior
HP:0030084Clinodactyly
HP:0004673Decreased facial expression
HP:0008947Floppy infant
HP:0000218High palate
HP:0003124Hypercholesterolemia
HP:0001249Intellectual disability
HP:0004904Maturity-onset diabetes of the young
HP:0000347Micrognathia
HP:0007010Poor fine motor coordination
HP:0000403Recurrent otitis media
HP:0000817Reduced eye contact
HP:0012760Reduced social responsiveness
HP:0002650Scoliosis
HP:0000322Short philtrum
HP:0000445Wide nose

Run the differential on the 7 obligate / very frequent terms

Annotation source: 30655999[PMID]_26395259[PMID]_24891339[PMID]

7

Sources for this card