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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
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Heredodegenerative Disorders, Nervous System (D020271)
..Starting node
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Cerebrocortical Degeneration of Infancy (C565863)

       Child Nodes:



 Sister Nodes: 
..expandAlexander Disease (D038261) Child1
..expandAmyloid Neuropathies, Familial (D028227) Child1
..expandAtherosclerosis, Premature, with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease (C565928)
..expandBulbo-Spinal Atrophy, X-Linked (D055534) Child1
..expandCanavan Disease (D017825)
..expandCerebrocortical Degeneration of Infancy (C565863)
..expandCockayne Syndrome (D003057) Child6
..expandDystonia Musculorum Deformans (D004422) Child7
..expandFamilial encephalopathy with neuroserpin inclusion bodies (C536841)
..expandFatty Acid Hydroxylase-Associated Neurodegeneration (C580102)
..expandGerstmann-Straussler-Scheinker Disease (D016098)
..expandHepatolenticular Degeneration (D006527) Child2
..expandHereditary Central Nervous System Demyelinating Diseases (D020279) Child29
..expandHereditary Sensory and Autonomic Neuropathies (D009477) Child12
..expandHereditary Sensory and Motor Neuropathy (D015417) Child164
..expandHuntington Disease (D006816) Child3
..expandHuntington Disease-Like 2 (C564708)
..expandHuntington Disease-Like Syndrome (C580174)
..expandLafora Disease (D020192)
..expandLesch-Nyhan Syndrome (D007926) Child1
..expandLipodystrophy with Congenital Cataracts and Neurodegeneration (C564669)
..expandMenkes Kinky Hair Syndrome (D007706) Child1
..expandMental Retardation, X-Linked (D038901) Child134
..expandMicrophthalmia, Syndromic 10 (C566985)
..expandMuscular Dystrophy, Congenital, with Severe Central Nervous System Atrophy and Absence of Large Myelinated Fibers (C563378)
..expandMyotonia Congenita (D009224) Child5
..expandMyotonic Dystrophy (D009223) Child1
..expandNavajo neurohepatopathy (C538344) Child1
..expandNeuroacanthocytosis (D054546) Child1
..expandNeurofibromatoses (D017253) Child13
..expandNeuronal Ceroid-Lipofuscinoses (D009472) Child9
..expandNeuropathy, Hereditary Sensory, Atypical (C564946)
..expandOptic Atrophies, Hereditary (D015418) Child30
..expandOpticocochleodentate Degeneration (C563002)
..expandPantothenate Kinase-Associated Neurodegeneration (D006211) Child1
..expandPeripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease (C563789)
..expandPeripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, and Spongy Degeneration of Brain (C564894)
..expandRett Syndrome (D015518) Child5
..expandScapuloperoneal Syndrome, Neurogenic, Kaeser Type (C566695)
..expandSpinal Muscular Atrophies of Childhood (D014897) Child7
..expandSpinocerebellar Degenerations (D013132) Child85
..expandSpongiform Encephalopathy with Neuropsychiatric Features (C564678)
..expandTourette Syndrome (D005879) Child2
..expandTuberous Sclerosis (D014402) Child4
..expandUnverricht-Lundborg Syndrome (D020194)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:1958
Name:Cerebrocortical Degeneration of Infancy
Definition:
Alternative IDs:
ParentIDs:MESH:D020271
TreeNumbers:C10.574.500/C565863 |C16.320.400/C565863
Synonyms:
Slim Mappings:Genetic disease (inborn)|Nervous system disease
Reference: MedGen: C565863
MeSH: C565863
OMIM: 213950;

Genes:
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0002120Cerebral cortical atrophy
3 HP:0025013Decerebrate rigidity
4 HP:0007281Developmental stagnation
5 HP:0002063Rigidity
Disease Causing ClinVar Variants