Ceroid lipofuscinosis, neuronal, 6A
- Synonyms
- CLN6 Disease; CLN6-Related Neuronal Ceroid-Lipofuscinosis; Neuronal ceroid lipofuscinosis 6; Neuronal ceroid lipofuscinosis, Gypsy/Indian early juvenile variant; Neuronal ceroid lipofuscinosis, late infantile, variant
- Modes of inheritance
- Autosomal recessive inheritance (Orphanet)
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (83 available)
Biochemical Genetics Tests
Clinical features
Help- Abnormal cellular phenotype
- Curvilinear intracellular accumulation of autofluorescent lipopigment storage material
Curvilinear intracellular accumulation of autofluorescent lipopigment storage material
- MedGen UID: 323011
- Concept ID: C1836852
- Finding: Finding
Abnormal cellular phenotype
- Fingerprint intracellular accumulation of autofluorescent lipopigment storage material
Fingerprint intracellular accumulation of autofluorescent lipopigment storage material
- MedGen UID: 324619
- Concept ID: C1836851
- Finding: Finding
Abnormal cellular phenotype
- Curvilinear intracellular accumulation of autofluorescent lipopigment storage material
- Abnormality of the eye
- Progressive visual loss
Progressive visual loss
- MedGen UID: 326867
- Concept ID: C1839364
- Finding: Finding
Abnormality of the eye
- Retinal degeneration
Retinal degeneration
- MedGen UID: 48432
- Concept ID: C0035304
- Finding: Finding
Abnormality of the eye
- Progressive visual loss
- Abnormality of the nervous system
- Abnormal nervous system electrophysiology
Abnormal nervous system electrophysiology
- MedGen UID: 867410
- Concept ID: C4021781
- Finding: Pathologic Function
Abnormality of the nervous system
- Increased neuronal autofluorescent lipopigment
Increased neuronal autofluorescent lipopigment
- MedGen UID: 892355
- Concept ID: C4025728
- Finding: Finding
Abnormality of the nervous system
- Motor deterioration
Motor deterioration
- MedGen UID: 356495
- Concept ID: C1866284
- Finding: Finding
Abnormality of the nervous system
- Seizure
Seizure
- MedGen UID: 20693
- Concept ID: C0036572
- Finding: Sign or Symptom
Abnormality of the nervous system
- Abnormal nervous system electrophysiology
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