ROWLEY-ROSENBERG SYNDROME

General Information (adopted from Orphanet):

Synonyms, Signs: GROWTH RETARDATION, PULMONARY HYPERTENSION, AND AMINO ACIDURIA
Number of Symptoms 12
OrphanetNr:
OMIM Id: 268500
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0003355) Aminoaciduria 65 / 7739
2
 (HPO:0001510) Growth delay 295 / 7739
3
 (HPO:0001648) Cor pulmonale 16 / 7739
4
 (HPO:0002092) Pulmonary hypertension 109 / 7739
5
 (HPO:0001667) Right ventricular hypertrophy 23 / 7739
6
 (HPO:0006532) Recurrent pneumonia 48 / 7739
7
 (HPO:0100750) Atelectasis 17 / 7739
8
 (HPO:0003011) Abnormality of the musculature 47 / 7739
9
 (HPO:0003758) Reduced subcutaneous adipose tissue 27 / 7739
10
 (OMIM) Increased plasma unesterified fatty acids 1 / 7739
11
 (OMIM) Poor muscular development 1 / 7739
12
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: