SOTOS SYNDROME 2

General Information (adopted from Orphanet):

Synonyms, Signs: SOTOS2
Number of Symptoms 8
OrphanetNr:
OMIM Id: 614753
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:0000276) Long face 109 / 7739
2
 (HPO:0000275) Narrow face 76 / 7739
3
 (HPO:0000739) Anxiety 67 / 7739
4
 (HPO:0001249) Intellectual disability 1089 / 7739
5
 (HPO:0005616) Accelerated skeletal maturation 46 / 7739
6
 (HPO:0002650) Scoliosis 705 / 7739
7
 (HPO:0001548) Overgrowth 27 / 7739
8
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Malan et al. (2010) reported 3 unrelated patients with a similar phenotype consisting of postnatal overgrowth, macrocephaly, advanced bone age, long narrow face, high forehead, slender habitus, scoliosis, unusual behavior characterized especially by anxiety, and mental retardation. One ...
Molecular genetics OMIM In a patient who had previously been diagnosed with a 'Sotos-like syndrome,' Malan et al. (2010) identified a heterozygous de novo nonsense mutation (Q190X; 164005.0001). RT-PCR analysis in patient fibroblasts indicated that the phenotype was due to NFIX ...