Cerebellar hypoplasia
Symptom Information:
Symptom ID: | HPO:0001321 | ||||||||||||||||||
Synonyms: |
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Is a (Direct Parents): |
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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) |
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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) |