PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 14
OrphanetNr:
OMIM Id: 616154
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:0002553) Highly arched eyebrow 92 / 7739
2
 (HPO:0000280) Coarse facial features 189 / 7739
3
 (HPO:0000252) Microcephaly 832 / 7739
4
 (HPO:0000219) Thin upper lip vermilion 112 / 7739
5
 (HPO:0000343) Long philtrum 262 / 7739
6
 (HPO:0000518) Cataract 454 / 7739
7
 (HPO:0000400) Macrotia 108 / 7739
8
 (HPO:0001257) Spasticity 251 / 7739
9
 (HPO:0001263) Global developmental delay 853 / 7739
10
 (HPO:0001250) Seizures 1245 / 7739
11
 (HPO:0001249) Intellectual disability 1089 / 7739
12
 (HPO:0001510) Growth delay 295 / 7739
13
 (HPO:0001252) Muscular hypotonia 990 / 7739
14
 (HPO:0001272) Cerebellar atrophy rare [HPO:skoehler] 197 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: