RUIJS-AALFS SYNDROME

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 17
OrphanetNr:
OMIM Id: 616200
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:0000426) Prominent nasal bridge 121 / 7739
2
 (HPO:0002007) Frontal bossing 366 / 7739
3
 (HPO:0000325) Triangular face 91 / 7739
4
 (HPO:0000347) Micrognathia 426 / 7739
5
 (HPO:0000414) Bulbous nose 63 / 7739
6
 (HPO:0007787) Posterior subcapsular cataract 20 / 7739
7
 (HPO:0000767) Pectus excavatum 244 / 7739
8
 (HPO:0002987) Elbow flexion contracture 64 / 7739
9
 (HPO:0001763) Pes planus 176 / 7739
10
 (HPO:0005659) Thoracic kyphoscoliosis 2 / 7739
11
 (HPO:0002750) Delayed skeletal maturation 250 / 7739
12
 (HPO:0200021) Down-sloping shoulders 18 / 7739
13
 (HPO:0001402) Hepatocellular carcinoma 25 / 7739
14
 (HPO:0004322) Short stature 1232 / 7739
15
 (HPO:0004325) Decreased body weight 492 / 7739
16
 (HPO:0003202) Skeletal muscle atrophy 281 / 7739
17
 (HPO:0009125) Lipodystrophy 54 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: