Diets-Jongmans syndrome
MONDO:0030012Mondo
Findings
No curated finding names Diets-Jongmans syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
33 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Delayed speech and language developmentHPOHP:0000750
- 16 of 16 reported patients
- Motor delayHPOHP:0001270
- 14 of 16 reported patients
- Broad nasal tipHPOHP:0000455
- 14 of 17 reported patients
- Pointed chinHPOHP:0000307
- 12 of 17 reported patients
- Thin upper lip vermilionHPOHP:0000219
- 12 of 17 reported patients
- Wide mouthHPOHP:0000154
- 12 of 17 reported patients
- Feeding difficulties in infancyHPOHP:0008872
- 9 of 15 reported patients · Neonatal onset
- Long earHPOHP:0400004
- 9 of 17 reported patients
- Short statureHPOHP:0004322
- 8 of 16 reported patients
- Generalized hypotoniaHPOHP:0001290
- 5 of 13 reported patients · Childhood onset
- Low hanging columellaHPOHP:0009765
- 6 of 17 reported patients
- Joint hypermobilityHPOHP:0001382
- 5 of 16 reported patients
Show the remaining 21
- Delayed ability to walkHPOHP:0031936
- 5 of 17 reported patients
- Breech presentationHPOHP:0001623
- 4 of 14 reported patients
- Attention deficit hyperactivity disorderHPOHP:0007018
- 4 of 15 reported patients
- Hearing impairmentHPOHP:0000365
- 4 of 17 reported patients
- Autistic behaviorHPOHP:0000729
- 3 of 15 reported patients
- SeizureHPOHP:0001250
- 3 of 15 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- KDM3BHGNC:1337
- Definitive · Ambry Genetics · Autosomal dominant · 2024
- Strong · Illumina · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · G2P · Autosomal dominant · 2020
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
2 names
Resolves to: Diets-Jongmans syndrome
- Also called
- DIJOSIntellectual Developmental Disorder With Distinctive Facial Dysmorphism