Peroxisome biogenesis disorder 8B
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (49 available)
Biochemical Genetics Tests
Clinical features
Help- Abnormality of limbs
- Ankle clonus
Ankle clonus
- MedGen UID: 68672
- Concept ID: C0238651
- Finding: Finding
Abnormality of limbs
- Ankle clonus
- 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
- Very long chain fatty acid accumulation
Very long chain fatty acid accumulation
- MedGen UID: 481027
- Concept ID: C3279397
- Finding: Finding
Abnormality of metabolism/homeostasis
- Elevated circulating phytanic acid concentration
- Abnormality of the digestive system
- Constipation
Constipation
- MedGen UID: 1101
- Concept ID: C0009806
- Finding: Sign or Symptom
Abnormality of the digestive system
- Decreased liver function
Decreased liver function
- MedGen UID: 65430
- Concept ID: C0232744
- Finding: Finding
Abnormality of the digestive system
- Dysphagia
Dysphagia
- MedGen UID: 41440
- Concept ID: C0011168
- Finding: Disease or Syndrome
Abnormality of the digestive system
- Constipation
- Abnormality of the eye
- Cataract
Cataract
- MedGen UID: 39462
- Concept ID: C0086543
- Finding: Disease or Syndrome
Abnormality of the eye
- Horizontal nystagmus
Horizontal nystagmus
- MedGen UID: 124399
- Concept ID: C0271385
- Finding: Disease or Syndrome
Abnormality of the eye
- Nystagmus
Nystagmus
- MedGen UID: 45166
- Concept ID: C0028738
- Finding: Disease or Syndrome
Abnormality of the eye
- Optic atrophy
Optic atrophy
- MedGen UID: 18180
- Concept ID: C0029124
- 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
- Cataract
- Abnormality of the musculoskeletal system
- Frequent falls
Frequent falls
- MedGen UID: 163408
- Concept ID: C0850703
- Finding: Finding
Abnormality of the musculoskeletal system
- Hypertonia
Hypertonia
- MedGen UID: 10132
- Concept ID: C0026826
- 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
- Rigidity
Rigidity
- MedGen UID: 7752
- Concept ID: C0026837
- Finding: Sign or Symptom
Abnormality of the musculoskeletal system
- Frequent falls
- 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
- Babinski sign
Babinski sign
- MedGen UID: 19708
- Concept ID: C0034935
- Finding: Finding
Abnormality of the nervous system
- Brain atrophy
Brain atrophy
- MedGen UID: 1643639
- Concept ID: C4551584
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Brisk reflexes
Brisk reflexes
- MedGen UID: 382164
- Concept ID: C2673700
- 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
- Cerebellar vermis atrophy
Cerebellar vermis atrophy
- MedGen UID: 149271
- Concept ID: C0742028
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Clonus
Clonus
- MedGen UID: 40341
- Concept ID: C0009024
- Finding: Sign or Symptom
Abnormality of the nervous system
- Corpus callosum atrophy
Corpus callosum atrophy
- MedGen UID: 96560
- Concept ID: C0431370
- 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
- Dysesthesia
Dysesthesia
- MedGen UID: 97901
- Concept ID: C0392699
- Finding: Finding
Abnormality of the nervous system
- Dysmetria
Dysmetria
- MedGen UID: 68583
- Concept ID: C0234162
- Finding: Finding
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
- Intellectual disability
Intellectual disability
- MedGen UID: 811461
- Concept ID: C3714756
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Leukodystrophy
Leukodystrophy
- MedGen UID: 6070
- Concept ID: C0023520
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Limb tremor
Limb tremor
- MedGen UID: 115980
- Concept ID: C0235081
- Finding: Sign or Symptom
Abnormality of the nervous system
- Loss of ambulation
Loss of ambulation
- MedGen UID: 332305
- Concept ID: C1836843
- Finding: Finding
Abnormality of the nervous system
- Lower limb spasticity
Lower limb spasticity
- MedGen UID: 220865
- Concept ID: C1271100
- Finding: Finding
Abnormality of the nervous system
- Peripheral demyelination
Peripheral demyelination
- MedGen UID: 451074
- Concept ID: C0878575
- Finding: Pathologic Function
Abnormality of the nervous system
- Peripheral neuropathy
Peripheral neuropathy
- MedGen UID: 18386
- Concept ID: C0031117
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Spastic paraparesis
Spastic paraparesis
- MedGen UID: 52432
- Concept ID: C0037771
- Finding: Sign or Symptom
Abnormality of the nervous system
- Spasticity
Spasticity
- MedGen UID: 7753
- Concept ID: C0026838
- Finding: Sign or Symptom
Abnormality of the nervous system
- Tip-toe gait
Tip-toe gait
- MedGen UID: 98104
- Concept ID: C0427144
- Finding: Finding
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
- Growth abnormality
- Failure to thrive
Failure to thrive
- MedGen UID: 746019
- Concept ID: C2315100
- Finding: Disease or Syndrome
Growth abnormality
- Failure to thrive
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