Peroxisome biogenesis disorder 6B
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (60 available)
Biochemical Genetics Tests
Clinical features
Help- Abnormality of limbs
- Absent Achilles reflex
Absent Achilles reflex
- MedGen UID: 108240
- Concept ID: C0558845
- Finding: Finding
Abnormality of limbs
- Pes cavus
Pes cavus
- MedGen UID: 675590
- Concept ID: C0728829
- Finding: Congenital Abnormality
Abnormality of limbs
- Absent Achilles reflex
- Abnormality of metabolism/homeostasis
- Elevated circulating phytanic acid concentration
Elevated circulating phytanic acid concentration
- MedGen UID: 869360
- Concept ID: C4023786
- Finding: Finding
Abnormality of metabolism/homeostasis
- Elevated circulating phytanic acid concentration
- Abnormality of the digestive system
- Decreased liver function
Decreased liver function
- MedGen UID: 65430
- Concept ID: C0232744
- Finding: Finding
Abnormality of the digestive system
- Prolonged neonatal jaundice
Prolonged neonatal jaundice
- MedGen UID: 347108
- Concept ID: C1859236
- Finding: Finding
Abnormality of the digestive system
- Decreased liver function
- Abnormality of the endocrine system
- Delayed menarche
Delayed menarche
- MedGen UID: 184929
- Concept ID: C0949173
- Finding: Disease or Syndrome
Abnormality of the endocrine system
- Delayed menarche
- Abnormality of the eye
- Dysmetric saccades
Dysmetric saccades
- MedGen UID: 322908
- Concept ID: C1836392
- Finding: Finding
Abnormality of the eye
- Impaired smooth pursuit
Impaired smooth pursuit
- MedGen UID: 325176
- Concept ID: C1837458
- Finding: Finding
Abnormality of the eye
- Nystagmus
Nystagmus
- MedGen UID: 45166
- Concept ID: C0028738
- Finding: Disease or Syndrome
Abnormality of the eye
- Retinal dystrophy
Retinal dystrophy
- MedGen UID: 208903
- Concept ID: C0854723
- Finding: Finding
Abnormality of the eye
- Visual impairment
Visual impairment
- MedGen UID: 777085
- Concept ID: C3665347
- Finding: Finding
Abnormality of the eye
- Dysmetric saccades
- Abnormality of the musculoskeletal system
- Distal amyotrophy
Distal amyotrophy
- MedGen UID: 338530
- Concept ID: C1848736
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Hypotonia
Hypotonia
- MedGen UID: 10133
- Concept ID: C0026827
- Finding: Finding
Abnormality of the musculoskeletal system
- Neonatal hypotonia
Neonatal hypotonia
- MedGen UID: 412209
- Concept ID: C2267233
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Distal amyotrophy
- Abnormality of the nervous system
- Abnormal cerebral white matter morphology
Abnormal cerebral white matter morphology
- MedGen UID: 181756
- Concept ID: C0948163
- Finding: Pathologic Function
Abnormality of the nervous system
- Areflexia
Areflexia
- MedGen UID: 115943
- Concept ID: C0234146
- Finding: Finding
Abnormality of the nervous system
- Cerebellar ataxia
Cerebellar ataxia
- MedGen UID: 849
- Concept ID: C0007758
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Cerebellar atrophy
Cerebellar atrophy
- MedGen UID: 196624
- Concept ID: C0740279
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Distal sensory impairment
Distal sensory impairment
- MedGen UID: 335722
- Concept ID: C1847584
- Finding: Finding
Abnormality of the nervous system
- Dysarthria
Dysarthria
- MedGen UID: 8510
- Concept ID: C0013362
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Gait ataxia
Gait ataxia
- MedGen UID: 155642
- Concept ID: C0751837
- Finding: Sign or Symptom
Abnormality of the nervous system
- Global developmental delay
Global developmental delay
- MedGen UID: 107838
- Concept ID: C0557874
- Finding: Finding
Abnormality of the nervous system
- Hyporeflexia
Hyporeflexia
- MedGen UID: 195967
- Concept ID: C0700078
- Finding: Finding
Abnormality of the nervous system
- Impaired distal vibration sensation
Impaired distal vibration sensation
- MedGen UID: 381262
- Concept ID: C1853767
- Finding: Finding
Abnormality of the nervous system
- Impaired vibratory sensation
Impaired vibratory sensation
- MedGen UID: 220959
- Concept ID: C1295585
- Finding: Finding
Abnormality of the nervous system
- Intention tremor
Intention tremor
- MedGen UID: 1642960
- Concept ID: C4551520
- Finding: Sign or Symptom
Abnormality of the nervous system
- Leukodystrophy
Leukodystrophy
- MedGen UID: 6070
- Concept ID: C0023520
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Limb ataxia
Limb ataxia
- MedGen UID: 196692
- Concept ID: C0750937
- Finding: Finding
Abnormality of the nervous system
- Motor axonal neuropathy
Motor axonal neuropathy
- MedGen UID: 413108
- Concept ID: C2749625
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Unsteady gait
Unsteady gait
- MedGen UID: 68544
- Concept ID: C0231686
- Finding: Finding
Abnormality of the nervous system
- Abnormal cerebral white matter morphology
- Ear malformation
- Sensorineural hearing loss disorder
Sensorineural hearing loss disorder
- MedGen UID: 9164
- Concept ID: C0018784
- Finding: Disease or Syndrome
Ear malformation
- Sensorineural hearing loss disorder
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.