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Ontology Browser
Term:
Congenital neuronal ceroid lipofuscinosis (EFO:Orphanet:168486)
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Parent Terms Term With Siblings Child Terms
aceruloplasminemia 
Acid phosphatase deficiency 
Albers-Schönberg osteopetrosis 
Alpers syndrome 
Ataxia - oculomotor apraxia type 1 
Ataxia with vitamin E deficiency 
Ataxia-telangiectasia 
Atypical progressive supranuclear palsy +  
autosomal dominant optic atrophy +  
Autosomal dominant spastic paraplegia type 10 
Autosomal dominant spastic paraplegia type 12 
Autosomal dominant spastic paraplegia type 13 
Autosomal dominant spastic paraplegia type 17 
Autosomal dominant spastic paraplegia type 19 
Autosomal dominant spastic paraplegia type 29 
Autosomal dominant spastic paraplegia type 3 
Autosomal dominant spastic paraplegia type 31 
Autosomal dominant spastic paraplegia type 36 
Autosomal dominant spastic paraplegia type 37 
Autosomal dominant spastic paraplegia type 38 
Autosomal dominant spastic paraplegia type 4 
Autosomal dominant spastic paraplegia type 41 
Autosomal dominant spastic paraplegia type 42 
Autosomal dominant spastic paraplegia type 6 
Autosomal dominant spastic paraplegia type 8 
autosomal recessive optic atrophy 
Autosomal recessive spastic paraplegia type 11 
Autosomal recessive spastic paraplegia type 14 
Autosomal recessive spastic paraplegia type 15 
Autosomal recessive spastic paraplegia type 18 
Autosomal recessive spastic paraplegia type 23 
Autosomal recessive spastic paraplegia type 24 
Autosomal recessive spastic paraplegia type 25 
Autosomal recessive spastic paraplegia type 26 
Autosomal recessive spastic paraplegia type 27 
Autosomal recessive spastic paraplegia type 28 
Autosomal recessive spastic paraplegia type 30 
Autosomal recessive spastic paraplegia type 32 
Autosomal recessive spastic paraplegia type 35 
Autosomal recessive spastic paraplegia type 39 
Autosomal recessive spastic paraplegia type 43 
Autosomal recessive spastic paraplegia type 44 
Autosomal recessive spastic paraplegia type 45 
Autosomal recessive spastic paraplegia type 46 
Autosomal recessive spastic paraplegia type 48 
Autosomal recessive spastic paraplegia type 49 
Autosomal recessive spastic paraplegia type 53 
Autosomal recessive spastic paraplegia type 54 
Autosomal recessive spastic paraplegia type 55 
Autosomal recessive spastic paraplegia type 56 
Autosomal recessive spastic paraplegia type 5A 
Autosomal recessive spastic paraplegia type 61 
Autosomal recessive spastic paraplegia type 62 
Autosomal recessive spastic paraplegia type 63 
Autosomal recessive spastic paraplegia type 64 
Autosomal recessive spastic paraplegia type 7 
Autosomal recessive spastic paraplegia type 72 
cerebrotendinous xanthomatosis 
choroidal sclerosis +  
Chédiak-Higashi syndrome 
Classical progressive supranuclear palsy 
CLN1 disease 
CLN11 disease 
CLN13 disease 
CLN2 disease 
CLN3 disease 
CLN4A disease 
CLN4B disease 
CLN5 disease 
CLN6 disease 
CLN7 disease 
CLN8 disease 
CLN9 disease 
COASY protein-associated neurodegeneration 
Cone rod dystrophy +  
Congenital neuronal ceroid lipofuscinosis +  
Congenital neuronal ceroid lipofuscinosis (CNCL) is a severe form of neuronal ceroid lipofuscinosis (NCL; see this term) with onset at birth characterized by primary microcephaly, neonatal epilepsy, and death in early infancy.
corneal-cerebellar syndrome 
Cystoid macular dystrophy 
Disorder of lysosomal amino acid transport +  
Early-onset progressive neurodegeneration - blindness - ataxia - spasticity 
eyelid degenerative disorder +  
FLVCR1-related retinopathy with or without ataxia +  
Foveal hypoplasia - presenile cataract 
Genetic neurodegenerative disease with dementia +  
Glycogen storage disease due to acid maltase deficiency +  
Gyrate atrophy of choroid and retina 
Hermansky-Pudlak syndrome with neutropenia 
Hyaluronidase deficiency 
Hypotrichosis with juvenile macular degeneration 
infantile cerebellar-retinal degeneration 
Juvenile nephropathic cystinosis 
Krabbe disease +  
Leber hereditary optic neuropathy 
Lipid storage disease +  
Macrocephaly - spastic paraplegia - dysmorphism 
MERRF 
Methylmalonic acidemia with homocystinuria, type cblC 
Microphthalmia - brain atrophy 
microphthalmia-brain atrophy syndrome 
Mohr-Tranebjaerg syndrome 
multiple mitochondrial dysfunctions syndrome 4 
muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome 
neuromyelitis optica +   
neuronal ceroid-lipofuscinosis, dominant/recessive 
osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome 
peroxisome biogenesis disorder due to PEX5 defect in the PEX7-binding domain +  
Primary lateral sclerosis 
Progressive epilepsy - intellectual disability, Finnish type 
Refsum disease 
rhizomelic chondrodysplasia punctata type 1 
Sandhoff disease +  
Severe intellectual disability and progressive spastic paraplegia 
Sjogren-Larsson syndrome 
Sjögren-Larsson syndrome 
Sorsby's fundus dystrophy 
Spastic paraplegia - epilepsy - intellectual disability 
Spastic paraplegia - facial-cutaneous lesions 
Spastic paraplegia - glaucoma - intellectual disability 
Spastic paraplegia - nephritis - deafness 
Spastic paraplegia - neuropathy - poikiloderma 
Spastic paraplegia - Paget disease of bone 
Spastic paraplegia - precocious puberty 
spastic paraplegia 84, autosomal recessive 
Spastic paraplegia type 2 
Spastic paraplegia-optic atrophy-neuropathy syndrome +  
spinocerebellar ataxia 27A 
Spinocerebellar ataxia with axonal neuropathy type 2 
Tay-Sachs disease +  
tremor-ataxia-central hypomyelination syndrome 
Unverricht-Lundborg disease 
vitreous syneresis +  
X-linked adrenoleukodystrophy 
X-linked Charcot-Marie-Tooth disease type 5 
X-linked spastic paraplegia type 16 
X-linked spastic paraplegia type 34 
Xeroderma pigmentosum complementation group B 
Xeroderma pigmentosum complementation group D 
Xeroderma pigmentosum complementation group F 
Xeroderma pigmentosum complementation group G 
Zellweger syndrome 

Synonyms
Exact Synonyms: Congenital NCL
Xrefs: ICD10:E75.4 ;   MIM:610127

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