Intellectual deficit - short stature - hypertelorism

General Information (adopted from Orphanet):

Synonyms, Signs: Stoll-GĂ©raudel-Chauvin syndrome
Number of Symptoms 9
OrphanetNr: 3074
OMIM Id:
ICD-10: Q87.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: X-linked recessive 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:0000337) Broad forehead Very frequent [Orphanet] 116 / 7739
2
(HPO:0000272) Malar flattening Very frequent [Orphanet] 277 / 7739
3
(HPO:0000343) Long philtrum Frequent [Orphanet] 262 / 7739
4
(HPO:0000316) Hypertelorism Very frequent [Orphanet] 644 / 7739
5
(HPO:0000463) Anteverted nares Very frequent [Orphanet] 305 / 7739
6
(HPO:0000445) Wide nose Frequent [Orphanet] 190 / 7739
7
(HPO:0002007) Frontal bossing Very frequent [Orphanet] 366 / 7739
8
(HPO:0004209) Clinodactyly of the 5th finger Frequent [Orphanet] 288 / 7739
9
(HPO:0012758) Neurodevelopmental delay Frequent [Orphanet] 949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: