Human Phenotype Ontology 
Grandparent Node:
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Abnormal metencephalon morphology (HP:0011283)help
Parent Node:
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Abnormal cerebellum morphology (HP:0001317)help
..Starting node
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Cerebellar dysplasia (HP:0007033)help
Term ID: 7033
Name: Cerebellar dysplasia
Synonym:
Definition: Cerebellar dysplasia (abnormal growth or development) is defined by abnormal cerebellar foliation, white matter arborization, and gray-white matter junction. Cerebellar dysplasia is a neuroimaging finding that describes abnormalities of both the cerebellar cortex and white matter and is associated with variable neurodevelopmental outcome. Dysplasia may globally involve the cerebellum or affect only one cerebellar hemisphere. In addition, cerebellar dysplasia may be associated with cortical/subcortical cysts.
Comments:
Reference: HP:0007033
Genes and Diseases:
 
       Child Nodes:
........expandSeverely dysplastic cerebellum (HP:0006893) help

 Sister Nodes: 
..expandAbnormal cerebellar cortex morphology (HP:0031422) help
..expandAbnormal dentate nucleus morphology (HP:0100321) help
..expandAplasia/Hypoplasia of the cerebellum (HP:0007360) help
..expandAtaxia (HP:0001251) help
..expandCerebellar atrophy (HP:0001272) help
..expandCerebellar calcifications (HP:0007352) help
..expandCerebellar edema (HP:0030915) help
..expandCerebellar gliosis (HP:0012698) help
..expandCerebellar hemangioblastoma (HP:0006880) help
..expandCerebellar malformation (HP:0002438) help
..expandDysplastic gangliocytoma of the cerebellum (HP:0500009) help
..expandEnlarged cerebellum (HP:0012081) help
..expandFusion of the cerebellar hemispheres (HP:0006899) help
..expandOlivopontocerebellar atrophy (HP:0002542) help
..expandRecurrent subcortical infarcts (HP:0007236) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0007033HP:0007033Cerebellar dysplasia0ADGRG1 CL E G H92894512ORPHA:101070Bilateral frontoparietal polymicrogyriaHP:0040281 - Very frequent88
HP:0007033HP:0007033Cerebellar dysplasia0ADGRG1 CL E G H92894512ORPHA:98889Bilateral perisylvian polymicrogyriaHP:0040283 - Occasional88
HP:0007033HP:0007033Cerebellar dysplasia0ARMC9 CL E G H8021020730OMIM:617622JOUBERT SYNDROME 30; JBTS30
HP:0007033HP:0007033Cerebellar dysplasia0B3GALNT2 CL E G H14878928596OMIM:615181MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11.43
HP:0007033HP:0007033Cerebellar dysplasia0BLTP1 CL E G H8416226953OMIM:617822Alkuraya-Kucinskas syndrome.
HP:0007033HP:0007033Cerebellar dysplasia0CDC42 CL E G H9981736ORPHA:487796Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndromeHP:0040283 - Occasional6
HP:0007033HP:0007033Cerebellar dysplasia0COG1 CL E G H93826545ORPHA:263508COG1-CDGHP:0040283 - Occasional52
HP:0007033HP:0007033Cerebellar dysplasia0FKRP CL E G H7914717997OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1.157
HP:0007033HP:0007033Cerebellar dysplasia0FKRP CL E G H7914717997OMIM:613153MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5.157
HP:0007033HP:0007033Cerebellar dysplasia0FKTN CL E G H22183622OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1.184
HP:0007033HP:0007033Cerebellar dysplasia0GPSM2 CL E G H2989929501OMIM:604213CHUDLEY-MCCULLOUGH SYNDROME; CMCS74
HP:0007033HP:0007033Cerebellar dysplasia0IDH1 CL E G H34175382ORPHA:99646Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria15
HP:0007033HP:0007033Cerebellar dysplasia0KIAA0586 CL E G H978619960OMIM:616490Joubert syndrome 23HP:0040283 - Occasional24
HP:0007033HP:0007033Cerebellar dysplasia0LAMA1 CL E G H2842176481ORPHA:370022Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndromeHP:0040281 - Very frequent35
HP:0007033HP:0007033Cerebellar dysplasia0LAMA1 CL E G H2842176481OMIM:615960Poretti-Boltshauser syndrome.35
HP:0007033HP:0007033Cerebellar dysplasia0LARGE1 CL E G H92156511OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1.136
HP:0007033HP:0007033Cerebellar dysplasia0MICU1 CL E G H103671530OMIM:615673Myopathy with extrapyramidal signs14
HP:0007033HP:0007033Cerebellar dysplasia0PI4KA CL E G H52978983ORPHA:98889Bilateral perisylvian polymicrogyriaHP:0040283 - Occasional11
HP:0007033HP:0007033Cerebellar dysplasia0PI4KA CL E G H52978983OMIM:616531Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis.11
HP:0007033HP:0007033Cerebellar dysplasia0POMGNT1 CL E G H5562419139OMIM:253280Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3.180
HP:0007033HP:0007033Cerebellar dysplasia0POMT1 CL E G H105859202OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1.213
HP:0007033HP:0007033Cerebellar dysplasia0POMT1 CL E G H105859202OMIM:613155MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1.213
HP:0007033HP:0007033Cerebellar dysplasia0POMT2 CL E G H2995419743OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1.221
HP:0007033HP:0007033Cerebellar dysplasia0POMT2 CL E G H2995419743OMIM:613150Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2.221
HP:0007033HP:0007033Cerebellar dysplasia0PTEN CL E G H57289588ORPHA:101070Bilateral frontoparietal polymicrogyriaHP:0040281 - Very frequent948
HP:0007033HP:0007033Cerebellar dysplasia0RAC1 CL E G H58799801OMIM:617751Mental retardation, autosomal dominant 48.3
HP:0007033HP:0007033Cerebellar dysplasia0RAC1 CL E G H58799801ORPHA:500159Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndromHP:0040283 - Occasional3
HP:0007033HP:0007033Cerebellar dysplasia0RXYLT1 CL E G H1032913530OMIM:615041MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 10.
HP:0007033HP:0007033Cerebellar dysplasia0SRPX2 CL E G H2728630668ORPHA:98889Bilateral perisylvian polymicrogyriaHP:0040283 - Occasional50
HP:0007033HP:0007033Cerebellar dysplasia0THOC2 CL E G H5718719073ORPHA:457240X-linked intellectual disability-short stature-overweight syndromeHP:0040283 - Occasional5
HP:0007033HP:0033745Dysplasia of the superior cerebellar vermis1 CL E G H
HP:0007033HP:0033744Global cerebellar dysplasia1 CL E G H
HP:0007033HP:0020185Superior cerebellar dysplasia1ARMC9 CL E G H8021020730OMIM:617622JOUBERT SYNDROME 30; JBTS30


Genes (23) :ADGRG1 ARMC9 B3GALNT2 BLTP1 CDC42 COG1 FKRP FKTN GPSM2 IDH1 KIAA0586 LAMA1 LARGE1 MICU1 PI4KA POMGNT1 POMT1 POMT2 PTEN RAC1 RXYLT1 SRPX2 THOC2

Diseases (23) :ORPHA:101070 ORPHA:98889 OMIM:617622 OMIM:615181 OMIM:617822 ORPHA:487796 ORPHA:263508 OMIM:236670 OMIM:613153 OMIM:604213 ORPHA:99646 OMIM:616490 ORPHA:370022 OMIM:615960 OMIM:615673 OMIM:616531 OMIM:253280 OMIM:613155 OMIM:613150 OMIM:617751 ORPHA:500159 OMIM:615041 ORPHA:457240
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.