OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 4
OrphanetNr:
OMIM Id: 613886
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0011344) Severe global developmental delay 46 / 7739
2
(HPO:0002591) Polyphagia 25 / 7739
3
(HPO:0001513) Obesity 172 / 7739
4
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Yeo et al. (2004) reported a boy with early-onset obesity, hyperphagia, and severe developmental delay. Although the patient had a normal birth weight, he rapidly gained weight from age 6 months, and his body mass index (BMI) was ...
Molecular genetics OMIM In the boy they reported with early-onset obesity, hyperphagia, and severe developmental delay, Yeo et al. (2004) identified a heterozygous de novo mutation in the TRKB gene (600456.0001).