PEROXISOME BIOGENESIS DISORDER 7B

General Information (adopted from Orphanet):

Synonyms, Signs: PBD7B
Number of Symptoms 7
OrphanetNr:
OMIM Id: 614873
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:0000505) Visual impairment 297 / 7739
2
(HPO:0000556) Retinal dystrophy 65 / 7739
3
(HPO:0000407) Sensorineural hearing impairment 524 / 7739
4
(HPO:0001263) Global developmental delay 853 / 7739
5
(HPO:0001410) Decreased liver function 59 / 7739
6
(HPO:0001319) Neonatal hypotonia 101 / 7739
7
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) The overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) represent the milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders. The clinical course of patients with the NALD and IRD presentation is ...
Molecular genetics OMIM Matsumoto et al. (2003) identified homozygosity for a missense mutation (608666.0001) in a patient with neonatal adrenoleukodystrophy (NALD).

Matsumoto et al. (2003) identified mutations in the PEX26 gene in patients with NALD (608666.0001) and infantile Refsum ...