PEROXISOME BIOGENESIS DISORDER 4B

General Information (adopted from Orphanet):

Synonyms, Signs: PBD4B
Number of Symptoms 7
OrphanetNr:
OMIM Id: 614863
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:0000510) Rod-cone dystrophy 266 / 7739
3
(HPO:0000407) Sensorineural hearing impairment 524 / 7739
4
(HPO:0001263) Global developmental delay 853 / 7739
5
(HPO:0001251) Ataxia 413 / 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 (PBDs). The clinical course of patients with the NALD and IRD presentation ...
Clinical Description OMIM Najmabadi et al. (2011) studied 5 sibs with moderate intellectual disability, retinitis pigmentosa, hearing loss, and ataxia. Their parents, who were second cousins, had 6 healthy children.
Molecular genetics OMIM Matsumoto et al. (2001) found compound heterozygosity for mutations in the PEX6 gene (601498.0007, 601498.0008) in a patient with a diagnosis of neonatal adrenoleukodystrophy (NALD) of PBD complementation group 6.

The 5 sibs in the study ...