raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:404440

OBSOLETE: Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency

inactive · referred to ORPHA:528084Non-specific syndromic intellectual disability

Type
Malformation syndrome
Group
Disorder
Status
inactive
Flag
Obsolete entity

This entity has been obsoleted from the Orphanet nomenclature of rare diseases.<br/><br/>Instead, consider using Non-specific syndromic intellectual disability

1

Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enOBSOLETE: Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
frOBSOLETE : Syndrome de déficience intellectuelle-dysmorphie faciale par haploinsuffisance de SETD5
deOBSOLET: Intelligenzminderung-Gesichtsdysmorphie-Syndrom durch SETD5-Haploinsuffizienz
esOBSOLETO: Síndrome de discapacidad intelectual-dismorfia facial por haploinsuficiencia de SETD5
itOBSOLETO: Sindrome da disabilit intellettiva e dismorfismi facciali da aploinsufficienza di SETD5
nlOBSOLEET: Intellectuele achterstand - faciale dysmorfie-syndroom door SETD5-haploinsufficiëntie
ptOBSOLETO: Síndrome de perturbação do desenvolvimento intelectual-dismorfia facial por haploinsuficiência de SETD5
plNIEAKTUALNE: Zespół niepełnosprawność intelektualna-dysmorfia twarzy z powodu haploinsuficjencji SETD5
csNEAKTUÁLNÍ: Syndrom zahrnující mentální retardaci a faciální dysmorfismus, způsobený haploinsuficiencí SETD5
ukСиндром інтелектуальної недостатності-дисморфізму обличчя внаслідок гаплонедостатності SETD5
zhSETD5单倍剂量不足导致的智力障碍和面部畸形综合征
trSETD5 haplo yetmezliğine bağlı zihinsel yetersizlik-yüz dismorfizm sendromu

Definition in:

2

Cross-references

qualifier = Orphanet mapping relation

No cross-references in this release.

3

Classification

Not placed in any Orphanet classification in this release.

No children.

4

Genes

0 direct

Orphanet records no gene directly on this code.

5

Prevalence and incidence

0 records

No prevalence record in this release.

6

HPO phenotypes

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

7

Sources for this card