obesity, hyperphagia, and developmental delay
MONDO:0013483Mondo
Findings
No curated finding names obesity, hyperphagia, and developmental delay yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
6 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.
- Generalized non-motor (absence) seizureHPOHP:0002121
- 1 of 1 reported patient
- HypotoniaHPOHP:0001252
- 1 of 1 reported patient · Infantile onset
- Motor stereotypyHPOHP:0000733
- 1 of 1 reported patient
- ObesityHPOHP:0001513
- 1 of 1 reported patient
- PolyphagiaHPOHP:0002591
- 1 of 1 reported patient
- Severe global developmental delayHPOHP:0011344
- 1 of 1 reported patient
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.
- NTRK2HGNC:8032
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of