Cerebellar hypoplasia

Symptom Information:

Symptom ID: HPO:0001321
Synonyms:
Congenital cerebellar hypoplasia [HPO:0001321]
Hypoplasia of cerebellum [HPO:0001321]
Hypoplastic cerebellum [HPO:0001321]
Cerebellar hypoplasia [OMIM:Cerebellar hypoplasia]
Congenital cerebellar hypoplasia [OMIM:Congenital cerebellar hypoplasia]
Hypoplasia of cerebellum [OMIM:Hypoplasia of cerebellum]
Hypoplastic cerebellum [OMIM:Hypoplastic cerebellum]
Cerebellar hypoplasia (1 patient) [OMIM:Cerebellar hypoplasia (1 patient)]
Cerebellar hypoplasia (in 1 of 2 patients) [OMIM:Cerebellar hypoplasia (in 1 of 2 patients)]
Cerebellar hypoplasia (in most patients) [OMIM:Cerebellar hypoplasia (in most patients)]
Cerebellar hypoplasia (in some patients) [OMIM:Cerebellar hypoplasia (in some patients)]
Cerebellar hypoplasia (in some) [OMIM:Cerebellar hypoplasia (in some)]
Cerebellar hypoplasia (male) [OMIM:Cerebellar hypoplasia (male)]
Cerebellar hypoplasia (reported in 1 family) [OMIM:Cerebellar hypoplasia (reported in 1 family)]
Cerebellar hypoplasia (seen in HHS variant) [OMIM:Cerebellar hypoplasia (seen in HHS variant)]
Cerebellar hypoplasia (seen in recessive form) [OMIM:Cerebellar hypoplasia (seen in recessive form)]
Cerebellar hypoplasia (variable) [OMIM:Cerebellar hypoplasia (variable)]
Cerebellar hypoplasia [MedDRA:10008033]
Quality:
Cross references:
OMIM: "Cerebellar hypoplasia" [OMIM:Cerebellar hypoplasia]
OMIM: "Congenital cerebellar hypoplasia" [OMIM:Congenital cerebellar hypoplasia]
OMIM: "Hypoplasia of cerebellum" [OMIM:Hypoplasia of cerebellum]
OMIM: "Hypoplastic cerebellum" [OMIM:Hypoplastic cerebellum]
OMIM: "Cerebellar hypoplasia (1 patient)" [OMIM:Cerebellar hypoplasia (1 patient)]
OMIM: "Cerebellar hypoplasia (in 1 of 2 patients)" [OMIM:Cerebellar hypoplasia (in 1 of 2 patients)]
OMIM: "Cerebellar hypoplasia (in most patients)" [OMIM:Cerebellar hypoplasia (in most patients)]
OMIM: "Cerebellar hypoplasia (in some patients)" [OMIM:Cerebellar hypoplasia (in some patients)]
OMIM: "Cerebellar hypoplasia (in some)" [OMIM:Cerebellar hypoplasia (in some)]
OMIM: "Cerebellar hypoplasia (male)" [OMIM:Cerebellar hypoplasia (male)]
OMIM: "Cerebellar hypoplasia (reported in 1 family)" [OMIM:Cerebellar hypoplasia (reported in 1 family)]
OMIM: "Cerebellar hypoplasia (seen in HHS variant)" [OMIM:Cerebellar hypoplasia (seen in HHS variant)]
OMIM: "Cerebellar hypoplasia (seen in recessive form)" [OMIM:Cerebellar hypoplasia (seen in recessive form)]
OMIM: "Cerebellar hypoplasia (variable)" [OMIM:Cerebellar hypoplasia (variable)]
Is a (Direct Parents):
HPO         Aplasia/Hypoplasia of the cerebellum
MedDRA Cerebellar disorders congenital
Is a (Whole tree): HPO:
MedDRA:
Congenital, familial and genetic disorders(MedDRA:10010331)
    Neurological disorders congenital(MedDRA:10029299)
       Cerebellar disorders congenital(MedDRA:10052633)
          Cerebellar hypoplasia(HPO:0001321)
Database Frequency: 114 / 7739
Resource:

All diseases associated with this symptom:

ANTERIOR CHAMBER CLEAVAGE DISORDER, CEREBELLAR HYPOPLASIA, HYPOTHYROIDISM,AND TRACHEAL STENOSIS (OMIM:601427)
ASPARAGINE SYNTHETASE DEFICIENCY (OMIM:615574)
Amelo-cerebro-hypohidrotic syndrome (Orphanet:1946)
Amish lethal microcephaly (Orphanet:99742)
Aniridia - cerebellar ataxia - intellectual deficit (Orphanet:1065)
Autosomal recessive cerebelloparenchymal disorder type 3 (Orphanet:1170)
Autosomal recessive chorioretinopathy-microcephaly (Orphanet:2518)
Bilateral frontal polymicrogyria (Orphanet:208444)
Bilateral frontoparietal polymicrogyria (Orphanet:101070)
CARDIOFACIOCUTANEOUS SYNDROME 4 (OMIM:615280)
CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME1 (OMIM:224050)
CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME2 (OMIM:610185)
CEREBELLOFACIODENTAL SYNDROME (OMIM:616202)
CEREBROOCULOFACIOSKELETAL SYNDROME 1 (OMIM:214150)
CEREBROOCULOFACIOSKELETAL SYNDROME 4 (OMIM:610758)
COENZYME Q10 DEFICIENCY, PRIMARY, 7 (OMIM:616276)
COFS syndrome (Orphanet:1466)
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6 (OMIM:615771)
Cerebellar hypoplasia - tapetoretinal degeneration (Orphanet:2246)
Chudley-McCullough syndrome (Orphanet:314597)
Cobblestone lissencephaly without muscular or ocular involvement (Orphanet:352682)
Cohen syndrome (Orphanet:193)
Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome (Orphanet:1369)
Congenital intrauterine infection-like syndrome (Orphanet:1229)
Congenital muscular dystrophy type 1A (Orphanet:258)
Congenital muscular dystrophy with intellectual disability and severe epilepsy (Orphanet:329178)
Craniotelencephalic dysplasia (Orphanet:1528)
D,L-2-hydroxyglutaric aciduria (Orphanet:356978)
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 2 (OMIM:613989)
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 3 (OMIM:613990)
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 5 (OMIM:615190)
Dysequilibrium syndrome (Orphanet:1766)
Dyskeratosis congenita (Orphanet:1775)
Encephalocraniocutaneous lipomatosis (Orphanet:2396)
Endosteal sclerosis - cerebellar hypoplasia (Orphanet:85186)
FETAL AKINESIA DEFORMATION SEQUENCE (OMIM:208150)
Fetal akinesia deformation sequence (Orphanet:994)
Fowler syndrome (Orphanet:221126)
Gamma-aminobutyric acid transaminase deficiency (Orphanet:2066)
HOLOPROSENCEPHALY 2 (OMIM:157170)
Holoprosencephaly - postaxial polydactyly (Orphanet:2166)
Hoyeraal-Hreidarsson syndrome (Orphanet:3322)
Hypoplasminogenemia (Orphanet:722)
Intellectual deficit, X-linked - craniofacioskeletal syndrome (Orphanet:163979)
Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome (Orphanet:369837)
LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA (OMIM:616342)
Ligneous conjunctivitis (Orphanet:97231)
Lissencephaly due to LIS1 mutation (Orphanet:95232)
MENTAL RETARDATION, AUTOSOMAL DOMINANT 13 (OMIM:614563)
MENTAL RETARDATION, AUTOSOMAL DOMINANT 15 (OMIM:614608)
MICROHYDRANENCEPHALY (OMIM:605013)
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1 (OMIM:257300)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 1 (OMIM:236670)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 11 (OMIM:615181)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 12 (OMIM:615249)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 13 (OMIM:615287)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 14 (OMIM:615350)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 2 (OMIM:613150)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 3 (OMIM:253280)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 4 (OMIM:253800)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 5 (OMIM:613153)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 7 (OMIM:614643)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 8 (OMIM:614830)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),TYPE B, 1 (OMIM:613155)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),TYPE B, 14 (OMIM:615351)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),TYPE B, 2 (OMIM:613156)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),TYPE B, 3 (OMIM:613151)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),TYPE B, 6 (OMIM:608840)
Marden-Walker syndrome (Orphanet:2461)
Meckel syndrome (Orphanet:564)
Meckel syndrome, type 1 (OMIM:249000)
Meckel syndrome, type 12 (OMIM:616258)
Micro syndrome (Orphanet:2510)
Microcephaly - facio-cardio-skeletal syndrome, Hadziselimovic type (Orphanet:217026)
Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome (Orphanet:329332)
Microphthalmia with brain and digit anomalies (Orphanet:139471)
Monosomy 18q (Orphanet:1600)
Mosaic variegated aneuploidy syndrome (Orphanet:1052)
Multiple congenital anomalies-hypotonia-seizures syndrome type 2 (Orphanet:300496)
Muscle-eye-brain disease (Orphanet:588)
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome (Orphanet:457185)
Neu-Laxova syndrome (Orphanet:2671)
Non-progressive cerebellar ataxia with intellectual deficit (Orphanet:314647)
PHACE syndrome (Orphanet:42775)
PONTOCEREBELLAR HYPOPLASIA, TYPE 1A (OMIM:607596)
PONTOCEREBELLAR HYPOPLASIA, TYPE 2B (OMIM:612389)
Permanent neonatal diabetes mellitus (Orphanet:99885)
Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis (Orphanet:65288)
Polymicrogyria due to TUBB2B mutation (Orphanet:300573)
Pontocerebellar hypoplasia type 1 (Orphanet:2254)
Pontocerebellar hypoplasia type 2 (Orphanet:2524)
Pontocerebellar hypoplasia type 3 (Orphanet:97249)
Pontocerebellar hypoplasia type 4 (Orphanet:166063)
Pontocerebellar hypoplasia type 5 (Orphanet:166068)
Pontocerebellar hypoplasia type 6 (Orphanet:166073)
Pontocerebellar hypoplasia type 7 (Orphanet:284339)
Pontocerebellar hypoplasia type 8 (Orphanet:324569)
Pontocerebellar hypoplasia, type 9 (OMIM:615809)
Porencephaly - cerebellar hypoplasia - internal malformations (Orphanet:2941)
Porencephaly-microcephaly-bilateral congenital cataract syndrome (Orphanet:306547)
Progressive external ophthalmoplegia - myopathy - emaciation (Orphanet:352447)
Retinopathy - anemia- central nervous system anomalies (Orphanet:3088)
SECKEL SYNDROME 2 (OMIM:606744)
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16 (OMIM:615768)
STEVENSON-CAREY SYNDROME (OMIM:611961)
TARP syndrome (Orphanet:2886)
Thrombocytopenia - absent radius (Orphanet:3320)
WARBURG MICRO SYNDROME 1 (OMIM:600118)
Williams syndrome (Orphanet:904)
Wolfram syndrome 1 (OMIM:222300)
X-linked complicated corpus callosum dysgenesis (Orphanet:1497)
X-linked intellectual deficit - cerebellar hypoplasia (Orphanet:137831)
X-linked intellectual deficit, Najm type (Orphanet:163937)
Yunis-Varon syndrome (Orphanet:3472)