ORPHA:254525

Temple syndrome due to paternal 14q32.2 microdeletion

Synonyms: Paternal del(14)(q32.2)

This disease is described under Temple syndrome

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Temple syndrome due to paternal 14q32.2 microdeletion	Paternal del(14)(q32.2)
fr	Syndrome de Temple lié à une microdélétion paternelle 14q32.2	Del(14)(q32.2) paternelle
de	Temple-Syndrom durch paternale Mikrodeletion 14q32.2	Del (14)(q32.2), paternal
es	Síndrome de Temple por microdeleción paterna 14q32.2	Del(14)(q32.2) paterna
it	Sindrome da microdelezione 14q32.2 paterna	Del (14)(q32.2) paterna · Monosomia 14q32.2 paterna
nl	Syndroom van Temple door paternale 14q32.2-microdeletie	Paternale del(14)(q32.2)
pt	Síndrome de Temple por microdeleção 14q32.2 paterna
pl	Zespół mikrodelecji ojcowskiej 14q32.2	Monosomia ojcowska 14q32.2 · Ojcowska del(14)(q32.2)
cs	Syndrom paternální mikrodelece 14q32.2	Paternální del (14)(q32.2) · Paternální monozomie 14q32.2
uk	Синдром Темпла, зумовлений батьковою мікроделецією 14q32.2	Батьківська del(14)(q32.2)
zh	父源染色体14q32.2微缺失所致Temple综合征	父源14q32.2缺失
tr	Paternal 14q32.2 mikrodelesyonuna bağlı tapınak sendromu	Paternal del (14) (q32.2)

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	616222	NTBT		validated
ICD-10	Q93.5	NTBT	attributed	validated
ICD-11	LD44.E	NTBT	index	validated
MONDO	0016780	E		validated
UMLS	C5679639	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:262110Partial deletion of the long arm of chromosome 14 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
ORPHA:254516Temple syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases; rare endocrine diseases

No children.

3 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
DLK1	Role in the phenotype of	Assessed	HGNC:2907	ENSG00000185559	176290	14q32.2	delta like non-canonical Notch ligand 1	18176563[PMID]
MEG3	Role in the phenotype of	Assessed	HGNC:14575	ENSG00000214548	605636	14q32.2	maternally expressed 3	18176563[PMID]_24801763[PMID]
RTL1	Role in the phenotype of	Assessed	HGNC:14665	ENSG00000254656	611896	14q32.2	retrotransposon Gag like 1	18176563[PMID]

2 records

Type	Class	Value	Area	Qualification	Validation	Source
Cases/families		9 cases	Worldwide	Case(s)	Validated	26377239[PMID]
Point prevalence	<1 / 1 000 000	—	Worldwide	Class only	Validated	ORPHANET_26377239[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.

22 annotations · validated 2020-10-22

HPO	Term (as annotated by Orphanet)	Diagnostic
Very frequent (99-80%)
HP:0000750	Delayed speech and language development
HP:0001252	Hypotonia
HP:0001270	Motor delay
HP:0008897	Postnatal growth retardation
HP:0001773	Short foot
HP:0200055	Small hand
Frequent (79-30%)
HP:0001511	Intrauterine growth retardation
HP:0001319	Neonatal hypotonia
HP:0011220	Prominent forehead
Occasional (29-5%)
HP:0001627	Abnormal heart morphology
HP:0000119	Abnormality of the genitourinary system
HP:0031878	Acromicria
HP:0030084	Clinodactyly
HP:0002714	Downturned corners of mouth
HP:0008872	Feeding difficulties in infancy
HP:0001249	Intellectual disability
HP:0000347	Micrognathia
HP:0001513	Obesity
HP:0007010	Poor fine motor coordination
HP:0000358	Posteriorly rotated ears
HP:0000826	Precocious puberty
HP:0004482	Relative macrocephaly

Annotation source: 29659920[PMID]_24891339[PMID]