PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
MONDO:0035133Mondo
Findings
No curated finding names PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features 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
52 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.
- AnxietyHPOHP:0000739
- 2 of 2 reported patients
- Global developmental delayHPOHP:0001263
- 3 of 3 reported patients
- HypotoniaHPOHP:0001252
- 2 of 2 reported patients
- Frequent (30% to 79% of cases)
- Intellectual disabilityHPOHP:0001249
- 3 of 3 reported patients
- Very frequent (80% to 99% of cases)
- ObesityHPOHP:0001513
- 3 of 3 reported patients
- MacrotiaHPOHP:0000400
- Very frequent (80% to 99% of cases)
- Neurodevelopmental delayHPOHP:0012758
- Very frequent (80% to 99% of cases)
- Large earlobeHPOHP:0009748
- 2 of 3 reported patients
- StrabismusHPOHP:0000486
- 2 of 3 reported patients
- Occasional (5% to 29% of cases)
- Abnormality of refractionHPOHP:0000539
- Frequent (30% to 79% of cases)
- Anteverted naresHPOHP:0000463
- Frequent (30% to 79% of cases)
- Attention deficit hyperactivity disorderHPOHP:0007018
- 1 of 2 reported patients
- Frequent (30% to 79% of cases)
Show the remaining 40
- Broad nasal tipHPOHP:0000455
- Frequent (30% to 79% of cases)
- Cafe-au-lait spotHPOHP:0000957
- Frequent (30% to 79% of cases)
- Clinodactyly of the 5th fingerHPOHP:0004209
- 1 of 3 reported patients
- Frequent (30% to 79% of cases)
- FatigueHPOHP:0012378
- Frequent (30% to 79% of cases)
- Feeding difficulties in infancyHPOHP:0008872
- Frequent (30% to 79% of cases)
- High foreheadHPOHP:0000348
- Frequent (30% to 79% of cases)
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.
- PHIPHGNC:15673
- Definitive · Ambry Genetics · Autosomal dominant · 2018
- Definitive · ClinGen · Autosomal dominant · 2022
- Definitive · G2P · Autosomal dominant · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
2 names
Resolves to: PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
- Also called
- Chung-Jansen syndromedevelopmental delay, intellectual disability, obesity, and dysmorphic features