MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 12
OrphanetNr:
OMIM Id: 616033
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:0000786) Primary amenorrhea rare [HPO:skoehler] 61 / 7739
2
 (HPO:0000470) Short neck 345 / 7739
3
 (HPO:0000445) Wide nose 190 / 7739
4
 (HPO:0000252) Microcephaly 832 / 7739
5
 (HPO:0001270) Motor delay 322 / 7739
6
 (HPO:0001249) Intellectual disability 1089 / 7739
7
 (HPO:0000823) Delayed puberty rare [HPO:skoehler] 65 / 7739
8
 (HPO:0000825) Hyperinsulinemic hypoglycemia rare [HPO:skoehler] 18 / 7739
9
 (HPO:0001388) Joint laxity rare [HPO:skoehler] 117 / 7739
10
 (HPO:0002650) Scoliosis rare [HPO:skoehler] 705 / 7739
11
 (HPO:0000939) Osteoporosis rare [HPO:skoehler] 129 / 7739
12
 (HPO:0004322) Short stature 1232 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: