HUTTERITE CEREBROOSTEONEPHRODYSPLASIA SYNDROME

General Information (adopted from Orphanet):

Synonyms, Signs: CEREBROOSTEONEPHOSIS SYNDROME
COND
Number of Symptoms 12
OrphanetNr:
OMIM Id: 236450
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:0000100) Nephrotic syndrome 83 / 7739
2
 (HPO:0010864) Intellectual disability, severe 120 / 7739
3
 (HPO:0011968) Feeding difficulties 240 / 7739
4
 (HPO:0008872) Feeding difficulties in infancy 153 / 7739
5
 (HPO:0004322) Short stature 1232 / 7739
6
 (OMIM) Mild spondylorhizomelic dwarfism 1 / 7739
7
 (OMIM) Decorticate neurological function 1 / 7739
8
 (OMIM) Normal prenatal brain growth 1 / 7739
9
 (OMIM) Congenital shortness 1 / 7739
10
 (OMIM) Terminal nephrotic syndrome 1 / 7739
11
 (OMIM) Later decelerated brain growth 1 / 7739
12
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: