PEROXISOME BIOGENESIS DISORDER 6B

General Information (adopted from Orphanet):

Synonyms, Signs: PBD6B
Number of Symptoms 19
OrphanetNr:
OMIM Id: 614871
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:0007772) Impaired smooth pursuit 21 / 7739
4
(HPO:0000639) Nystagmus 555 / 7739
5
(HPO:0000641) Dysmetric saccades 10 / 7739
6
(HPO:0000407) Sensorineural hearing impairment 524 / 7739
7
(HPO:0001260) Dysarthria 329 / 7739
8
(HPO:0002080) Intention tremor rare [HPO:skoehler] 44 / 7739
9
(HPO:0001251) Ataxia 413 / 7739
10
(HPO:0001263) Global developmental delay 853 / 7739
11
(HPO:0001265) Hyporeflexia rare [HPO:skoehler] 208 / 7739
12
(HPO:0002936) Distal sensory impairment rare [HPO:skoehler] 96 / 7739
13
(HPO:0001761) Pes cavus rare [HPO:skoehler] 225 / 7739
14
(HPO:0001410) Decreased liver function 59 / 7739
15
(HPO:0003693) Distal amyotrophy rare [HPO:skoehler] 118 / 7739
16
(HPO:0001319) Neonatal hypotonia 101 / 7739
17
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
18
(HPO:0002500) Abnormality of the cerebral white matter rare [HPO:skoehler] 73 / 7739
19
(HPO:0001272) Cerebellar atrophy 197 / 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 Warren et al. (1998) identified found compound heterozygosity for a missense mutation in the PEX10 gene (602859.0002) in a patient with NALD.