Brachydactyly - mesomelia - intellectual deficit - heart defects

General Information (adopted from Orphanet):

Synonyms, Signs: Stratton-Garcia-Young syndrome
Number of Symptoms 11
OrphanetNr: 1277
OMIM Id:
ICD-10: Q87.8
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: Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Rare genetic intellectual deficit with developmental anomaly
 -Rare genetic disease
Rare intellectual deficit with developmental anomaly
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
2
 (HPO:0009804) Reduced number of teeth Very frequent [Orphanet] 137 / 7739
3
 (HPO:0002705) High, narrow palate Very frequent [Orphanet] 308 / 7739
4
 (HPO:0000444) Convex nasal ridge Very frequent [Orphanet] 87 / 7739
5
 (HPO:0003027) Mesomelia Very frequent [Orphanet] 58 / 7739
6
 (HPO:0100818) Long thorax Very frequent [Orphanet] 10 / 7739
7
 (HPO:0004279) Short palm Very frequent [Orphanet] 323 / 7739
8
 (HPO:0000774) Narrow chest Very frequent [Orphanet] 167 / 7739
9
 (HPO:0004299) Hernia of the abdominal wall Very frequent [Orphanet] 176 / 7739
10
 (HPO:0001633) Abnormality of the mitral valve Very frequent [Orphanet] 69 / 7739
11
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: