Cerebellar atrophy

Symptom Information:

Symptom ID: HPO:0001272
Synonyms:
Infratentorial atrophy [HPO:0001272]
Cerebellar atrophy [OMIM:Cerebellar atrophy]
Cerebellar atrophy (1 patient) [OMIM:Cerebellar atrophy (1 patient)]
Cerebellar atrophy (96% of patients) [OMIM:Cerebellar atrophy (96% of patients)]
Cerebellar atrophy (especially in the superior cerebellar vermis) [OMIM:Cerebellar atrophy (especially in the superior cerebellar vermis)]
Cerebellar atrophy (especially of the vermis) [OMIM:Cerebellar atrophy (especially of the vermis)]
Cerebellar atrophy (in 1 family) [OMIM:Cerebellar atrophy (in 1 family)]
Cerebellar atrophy (in adulthood) [OMIM:Cerebellar atrophy (in adulthood)]
Cerebellar atrophy (in some patients) [OMIM:Cerebellar atrophy (in some patients)]
Cerebellar atrophy (juvenile form) [OMIM:Cerebellar atrophy (juvenile form)]
Cerebellar atrophy (reported in 1 patient) [OMIM:Cerebellar atrophy (reported in 1 patient)]
Cerebellar atrophy [MedDRA:10008027]
Quality:
Cross references:
OMIM: "Cerebellar atrophy" [OMIM:Cerebellar atrophy]
OMIM: "Cerebellar atrophy (1 patient)" [OMIM:Cerebellar atrophy (1 patient)]
OMIM: "Cerebellar atrophy (96% of patients)" [OMIM:Cerebellar atrophy (96% of patients)]
OMIM: "Cerebellar atrophy (especially in the superior cerebellar vermis)" [OMIM:Cerebellar atrophy (especially in the superior cerebellar vermis)]
OMIM: "Cerebellar atrophy (especially of the vermis)" [OMIM:Cerebellar atrophy (especially of the vermis)]
OMIM: "Cerebellar atrophy (in 1 family)" [OMIM:Cerebellar atrophy (in 1 family)]
OMIM: "Cerebellar atrophy (in adulthood)" [OMIM:Cerebellar atrophy (in adulthood)]
OMIM: "Cerebellar atrophy (in some patients)" [OMIM:Cerebellar atrophy (in some patients)]
OMIM: "Cerebellar atrophy (juvenile form)" [OMIM:Cerebellar atrophy (juvenile form)]
OMIM: "Cerebellar atrophy (reported in 1 patient)" [OMIM:Cerebellar atrophy (reported in 1 patient)]
Is a (Direct Parents):
HPO         Abnormality of the cerebellum
MedDRA Structural brain disorders NEC
Is a (Whole tree): HPO:
MedDRA:
Nervous system disorders(MedDRA:10029205)
    Structural brain disorders(MedDRA:10042258)
       Structural brain disorders NEC(MedDRA:10042259)
          Cerebellar atrophy(HPO:0001272)
Database Frequency: 197 / 7739
Resource:

All diseases associated with this symptom:

3-@METHYLGLUTACONIC ACIDURIA WITH CATARACTS, NEUROLOGIC INVOLVEMENT,AND NEUTROPENIA (OMIM:616271)
3-methylglutaconic aciduria type 3 (Orphanet:67047)
AICARDI-GOUTIERES SYNDROME 4 (OMIM:610333)
ALG3-CDG (Orphanet:79321)
ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS ANDDIABETES MELLITUS (OMIM:616192)
ATAXIA-OCULOMOTOR APRAXIA 3 (OMIM:615217)
ATAXIA-OCULOMOTOR APRAXIA 4 (OMIM:616267)
ATAXIA-TELANGIECTASIA-LIKE DISORDER 2 (OMIM:615919)
Action myoclonus - renal failure syndrome (Orphanet:163696)
Adenylosuccinate lyase deficiency (Orphanet:46)
Adult polyglucosan body disease (Orphanet:206583)
Adult-onset autosomal recessive cerebellar ataxia (Orphanet:284289)
Alpers syndrome (Orphanet:726)
Alpha-mannosidosis (Orphanet:61)
Ataxia - hypogonadism - choroidal dystrophy (Orphanet:1180)
Ataxia - oculomotor apraxia type 1 (Orphanet:1168)
Ataxia - pancytopenia (Orphanet:2585)
Ataxia-telangiectasia-like disorder (Orphanet:251347)
Autosomal dominant spastic paraplegia type 4 (Orphanet:100985)
Autosomal recessive ataxia due to ubiquinone deficiency (Orphanet:139485)
Autosomal recessive ataxia, Beauce type (Orphanet:88644)
Autosomal recessive cerebellar ataxia - epilepsy - intellectual deficit (Orphanet:284282)
Autosomal recessive cerebellar ataxia - psychomotor retardation (Orphanet:284271)
Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome (Orphanet:363429)
Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency (Orphanet:324262)
Autosomal recessive spastic ataxia with leukoencephalopathy (Orphanet:314603)
Autosomal recessive spastic paraplegia type 11 (Orphanet:2822)
Autosomal recessive spastic paraplegia type 15 (Orphanet:100996)
Autosomal recessive spastic paraplegia type 20 (Orphanet:101000)
Autosomal recessive spastic paraplegia type 30 (Orphanet:101010)
Autosomal recessive spastic paraplegia type 32 (Orphanet:171622)
Autosomal recessive spastic paraplegia type 35 (Orphanet:171629)
Autosomal recessive spastic paraplegia type 39 (Orphanet:139480)
Autosomal recessive spastic paraplegia type 46 (Orphanet:320391)
Autosomal recessive spastic paraplegia type 55 (Orphanet:320375)
Autosomal recessive spastic paraplegia type 7 (Orphanet:99013)
Behr syndrome (Orphanet:1239)
Beta-propeller protein-associated neurodegeneration (Orphanet:329284)
CADDS (Orphanet:369942)
CAMOS syndrome (Orphanet:83472)
CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME2 (OMIM:610185)
CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME4 (OMIM:615268)
CEREBELLAR ATAXIA, NEUROPATHY, AND VESTIBULAR AREFLEXIA SYNDROME (OMIM:614575)
CEREBRAL PALSY, ATAXIC, AUTOSOMAL RECESSIVE (OMIM:605388)
CLN11 disease (Orphanet:314629)
CLN13 disease (Orphanet:352709)
CLN5 disease (Orphanet:228360)
CLN7 disease (Orphanet:228366)
CLN8 disease (Orphanet:228354)
COENZYME Q10 DEFICIENCY, PRIMARY, 1 (OMIM:607426)
COG5-CDG (Orphanet:263487)
COG8-CDG (Orphanet:95428)
CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTALDELAY (OMIM:616266)
Cerebellar ataxia - hypogonadism (Orphanet:1173)
Cerebellar ataxia-deafness-narcolepsy syndrome (Orphanet:314404)
Cerebrotendinous xanthomatosis (Orphanet:909)
Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (Orphanet:284324)
Christianson syndrome (Orphanet:85278)
Combined oxidative phosphorylation defect type 14 (Orphanet:319519)
Congenital cataract-hearing loss-severe developmental delay syndrome (Orphanet:300313)
Congenital muscular dystrophy with cerebellar involvement (Orphanet:370959)
Congenital neuronal ceroid lipofuscinosis (Orphanet:168486)
Cystinuria (Orphanet:214)
Cystinuria type B (Orphanet:93613)
DE SANCTIS-CACCHIONE SYNDROME (OMIM:278800)
DYSTONIA 23 (OMIM:614860)
DYSTONIA WITH CEREBELLAR ATROPHY (OMIM:611694)
Dysequilibrium syndrome (Orphanet:1766)
EAST syndrome (Orphanet:199343)
EPILEPSY, PROGRESSIVE MYOCLONIC 7 (OMIM:616187)
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5 (OMIM:613477)
Early-onset progressive neurodegeneration - blindness - ataxia - spasticity (Orphanet:352654)
Early-onset spastic ataxia-neuropathy syndrome (Orphanet:313772)
Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome (Orphanet:319678)
Erythrokeratodermia - ataxia (Orphanet:1955)
Familial or sporadic hemiplegic migraine (Orphanet:569)
Filippi syndrome (Orphanet:3255)
Fragile X-associated tremor/ataxia syndrome (Orphanet:93256)
Freeman-Sheldon syndrome (Orphanet:2053)
Friedreich ataxia 1 (OMIM:229300)
Friedreich ataxia 2 (OMIM:601992)
Fucosidosis (Orphanet:349)
GORDON HOLMES SYNDROME (OMIM:212840)
GROWTH FAILURE, MICROCEPHALY, MENTAL RETARDATION, CATARACTS, LARGEJOINT CONTRACTURES, OSTEOPOROSIS, CORTICAL DYSPLASIA, AND CEREBELLARATROPHY (OMIM:608278)
Galloway-Mowat syndrome (Orphanet:2065)
Gerstmann-Straussler-Scheinker syndrome (Orphanet:356)
Huntington disease (Orphanet:399)
Hypomyelination with atrophy of basal ganglia and cerebellum (Orphanet:139441)
Infantile cerebellar-retinal degeneration (Orphanet:313850)
Infantile neuroaxonal dystrophy (Orphanet:35069)
Infantile onset spinocerebellar ataxia (Orphanet:1186)
Infantile-onset autosomal recessive nonprogressive cerebellar ataxia (Orphanet:284332)
Isolated CoQ-cytochrome C reductase deficiency (Orphanet:1460)
Isolated NADH-CoQ reductase deficiency (Orphanet:2609)
Juvenile Huntington disease (Orphanet:248111)
Knobloch syndrome (Orphanet:1571)
L-2-hydroxyglutaric aciduria (Orphanet:79314)
LARYNGEAL ABDUCTOR PARALYSIS WITH CEREBELLAR ATAXIA AND MOTOR NEUROPATHY (OMIM:606183)
LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/ORHYPOGONADOTROPIC HYPOGONADISM (OMIM:614381)
LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE (OMIM:615889)
LICHTENSTEIN-KNORR SYNDROME (OMIM:616291)
Leigh syndrome with leukodystrophy (Orphanet:255241)
Leukoencephalopathy - ataxia - hypodontia - hypomyelination (Orphanet:137639)
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A (OMIM:613925)
MEGDEL syndrome (Orphanet:352328)
MELAS (Orphanet:550)
MENTAL RETARDATION, AUTOSOMAL DOMINANT 9 (OMIM:614255)
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CHUDLEY-SCHWARTZ TYPE (OMIM:300861)
MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE III (OMIM:210730)
MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2 (OMIM:616171)
MIGRAINE, FAMILIAL HEMIPLEGIC, 1 (OMIM:141500)
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2 (OMIM:615157)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5 (OMIM:606612)
Marinesco-Sjögren syndrome (Orphanet:559)
Mevalonic aciduria (Orphanet:29)
Microcephalic primordial dwarfism due to ZNF335 deficiency (Orphanet:329228)
Microcephaly-capillary malformation syndrome (Orphanet:294016)
Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies (Orphanet:369897)
Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency (Orphanet:1194)
Mucolipidosis type 4 (Orphanet:578)
Multiple congenital anomalies - hypotonia - seizures syndrome (Orphanet:280633)
Multiple sulfatase deficiency (Orphanet:585)
Myopathy, lactic acidosis, and sideroblastic anemia 1; MLASA1 (OMIM:600462)
NARP syndrome (Orphanet:644)
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A (OMIM:256600)
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B (OMIM:610217)
NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET (OMIM:616263)
Nephronophthisis 2 (OMIM:602088)
Neurodegeneration with brain iron accumulation due to C19orf12 mutation (Orphanet:289560)
Neurological conditions associated with aminoacylase 1 deficiency (Orphanet:137754)
OLIVOPONTOCEREBELLAR ATROPHY V (OMIM:164700)
Odontoleukodystrophy (Orphanet:77295)
PEHO syndrome (Orphanet:2836)
PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER (OMIM:616154)
PEROXISOME BIOGENESIS DISORDER 5B (OMIM:614867)
PEROXISOME BIOGENESIS DISORDER 6B (OMIM:614871)
PONTOCEREBELLAR HYPOPLASIA, TYPE 1B (OMIM:614678)
PONTOCEREBELLAR HYPOPLASIA, TYPE 2D (OMIM:613811)
PONTOCEREBELLAR HYPOPLASIA, TYPE 2E (OMIM:615851)
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,AUTOSOMAL DOMINANT, 4 (OMIM:610131)
Perrault Syndrome (Orphanet:2855)
Perrault Syndrome 1 (OMIM:233400)
Polyneuropathy - hearing loss - ataxia - retinitis pigmentosa - cataract (Orphanet:171848)
Pontocerebellar hypoplasia type 3 (Orphanet:97249)
Pontocerebellar hypoplasia type 6 (Orphanet:166073)
Porencephaly (Orphanet:2940)
Progressive epilepsy-intellectual deficit, Finnish type (Orphanet:1947)
Progressive myoclonic epilepsy type 3 (Orphanet:263516)
Renal tubulopathy - encephalopathy - liver failure (Orphanet:254902)
Retinitis pigmentosa - intellectual deficit - deafness - hypogenitalism (Orphanet:3085)
SPASTIC ATAXIA 2, AUTOSOMAL RECESSIVE (OMIM:611302)
SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE (OMIM:612936)
SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE (OMIM:613744)
SPASTIC PARAPLEGIA, ATAXIA, AND MENTAL RETARDATION (OMIM:607565)
SPINOCEREBELLAR ATAXIA 38 (OMIM:615957)
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 (OMIM:606002)
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15 (OMIM:615705)
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16 (OMIM:615768)
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18 (OMIM:616204)
STT3A-CDG (Orphanet:370921)
STT3B-CDG (Orphanet:370924)
Severe intellectual deficit and progressive spastic paraplegia (Orphanet:280763)
Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome (Orphanet:369939)
Spectrin-associated autosomal recessive cerebellar ataxia (Orphanet:352403)
Spinocerebellar ataxia - dysmorphism (Orphanet:1185)
Spinocerebellar ataxia type 10 (Orphanet:98761)
Spinocerebellar ataxia type 11 (Orphanet:98767)
Spinocerebellar ataxia type 12 (Orphanet:98762)
Spinocerebellar ataxia type 13 (Orphanet:98768)
Spinocerebellar ataxia type 14 (Orphanet:98763)
Spinocerebellar ataxia type 15/16 (Orphanet:98769)
Spinocerebellar ataxia type 17 (Orphanet:98759)
Spinocerebellar ataxia type 18 (Orphanet:98771)
Spinocerebellar ataxia type 19/22 (Orphanet:98772)
Spinocerebellar ataxia type 21 (Orphanet:98773)
Spinocerebellar ataxia type 23 (Orphanet:101108)
Spinocerebellar ataxia type 25 (Orphanet:101111)
Spinocerebellar ataxia type 26 (Orphanet:101112)
Spinocerebellar ataxia type 27 (Orphanet:98764)
Spinocerebellar ataxia type 28 (Orphanet:101109)
Spinocerebellar ataxia type 3 (Orphanet:98757)
Spinocerebellar ataxia type 30 (Orphanet:211017)
Spinocerebellar ataxia type 31 (Orphanet:217012)
Spinocerebellar ataxia type 35 (Orphanet:276193)
Spinocerebellar ataxia type 36 (Orphanet:276198)
Spinocerebellar ataxia type 4 (Orphanet:98765)
Spinocerebellar ataxia type 5 (Orphanet:98766)
Spinocerebellar ataxia type 6 (Orphanet:98758)
Spinocerebellar ataxia type 8 (Orphanet:98760)
Spinocerebellar ataxia with axonal neuropathy type 2 (Orphanet:64753)
WARBURG MICRO SYNDROME 4 (OMIM:615663)
Wolfram syndrome 1 (OMIM:222300)
X-linked Charcot-Marie-Tooth disease type 1 (Orphanet:101075)
X-linked progressive cerebellar ataxia (Orphanet:1175)
X-linked spinocerebellar ataxia type 3 (Orphanet:85297)
Xeroderma pigmentosum complementation group B (Orphanet:276252)
[DEL] SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE (OMIM:607259)