DWARFISM, LOW-BIRTH-WEIGHT TYPE, WITH UNRESPONSIVENESS TO GROWTH HORMONE

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 7
OrphanetNr:
OMIM Id: 223500
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000365) Hearing impairment 539 / 7739
2
(HPO:0001249) Intellectual disability 1089 / 7739
3
(HPO:0001511) Intrauterine growth retardation 358 / 7739
4
(HPO:0003510) Severe short stature 90 / 7739
5
(HPO:0001943) Hypoglycemia 131 / 7739
6
(OMIM) High immunoreactive HGH with insulin-induced hypoglycemia 1 / 7739
7
(OMIM) HGH suppression and insulin secretion by oral glucose 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Van Gemund et al. (1969) described 2 boys, offspring of first-cousin parents, who were 'small for dates' at birth and showed marked dwarfism, severe mental retardation, and congenital deafness. One relative was congenitally deaf with normal stature and ...