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Ontology Browser

Term:
Parent Terms Term With Siblings Child Terms
3MC syndrome 3  
Abuse Dwarfism Syndrome 
AGAT deficiency  
Agenesis of Corpus Callosum +   
Aicardi-Goutieres syndrome +   
Al Gazali Sabrinathan Nair Syndrome 
Arima Syndrome 
Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development  
Athabaskan brainstem dysgenesis syndrome  
Bagatelle Cassidy syndrome 
Bainbridge-Ropers Syndrome  
Beaulieu-Boycott-Innes Syndrome  
Beck-Fahrner Syndrome  
Behrens Baumann Dust Syndrome 
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome  
Brachycephaly, Trichomegaly, and Developmental Delay  
Central Nervous System Cysts +   
Central Nervous System Vascular Malformations +   
Cerebellar Atrophy with Seizures and Variable Developmental Delay  
CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES  
Cerebellar Degeneration-Related Autoantigen 3 
cerebellar hypoplasia +   
A cerebellar disease that is characterized by a cerebellum that is smaller than usual or not completely developed. (DO)
Cerebellar Neoplasms +   
Cerebellar Vermis Aplasia with Associated Features suggesting Smith-Lemli-Opitz Syndrome and Meckel Syndrome 
Cerebellar, Ocular, Craniofacial, and Genital Syndrome  
Cerebellofaciodental Syndrome  
Cerebelloparenchymal Disorder VI 
Chitayat Moore Del Bigio Syndrome 
Chitty Hall Webb Syndrome 
Chondrodysplasia, Megarbane-Dagher-Melki Type  
chromosome 13q14 deletion syndrome  
chromosome 17p13.3 duplication syndrome  
chromosome 3q29 microdeletion syndrome 
chromosome Xp11.23-p11.22 duplication syndrome 
Cohen syndrome  
complex cortical dysplasia with other brain malformations +   
CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY  
Congenital Heart Defects, Dysmorphic Facial Features, and Intellectual Developmental Disorder  
Congenital Hypotonia, Epilepsy, Developmental Delay, and Digital Anomalies  
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation 
Dandy-Walker syndrome +   
Der Kaloustian Mcintosh Silver Syndrome 
Desanto-Shinawi Syndrome  
Developmental Delay with or without Dysmorphic Facies and Autism  
DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES  
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2  
Drachtman Weinblatt Sitarz Syndrome 
Dykes Markes Harper Syndrome 
Dyskinesias, Seizures, and Intellectual Developmental Disorder  
Dystonia with Cerebellar Atrophy 
ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM  
EPILEPSY, EARLY-ONSET, WITH OR WITHOUT DEVELOPMENTAL DELAY  
Forebrain Defects  
Forsythe-Wakeling Syndrome 
Fragile Site 16p12 
Frank-Ter Haar syndrome  
GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME  
GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT  
GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES  
Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms Tumor  
Global Developmental Delay, Progressive Ataxia, and Elevated Glutamine  
GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15  
Growth Retardation, Developmental Delay, Coarse Facies, and Early Death  
Grubben de Cock Borghgraef Syndrome 
HEART AND BRAIN MALFORMATION SYNDROME  
hereditary sensory neuropathy +   
Heyn-Sproul-Jackson Syndrome  
hypermethioninemia due to adenosine kinase deficiency  
HYPOPIGMENTATION, ORGANOMEGALY, AND DELAYED MYELINATION AND DEVELOPMENT  
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME  
HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME  
IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA  
Joubert syndrome +   
Kat6a Syndrome  
Keppen-Lubinsky Syndrome  
L-2-hydroxyglutaric aciduria  
Lamb-Shaffer Syndrome  
LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME  
Loucks-Innes Syndrome  
Luscan-Lumish syndrome  
Median-Ulnar Nerve Communications 
Megalencephaly with Thick Corpus Callosum, Cerebellar Atrophy, and Intellectual Disability  
Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum  
MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME  
Microcephaly, Growth Deficiency, Seizures, and Brain Malformations  
Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance 
microcephaly, seizures, and developmental delay  
Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia 
Miller Fisher syndrome 
Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay  
neural tube defect +   
Neurodevelopmental Disorder and Language Delay with or Without Structural Brain Abnormalities  
NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY  
Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination  
Neurodevelopmental Disorder with Hypotonia and Cerebellar Atrophy, with or without Seizures  
neurodevelopmental disorder with midbrain and hindbrain malformations  
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISTIC FEATURES AND/OR STRUCTURAL BRAIN ABNORMALITIES  
NFIA-related disorder  
Nizon-Isidor Syndrome  
Non-Lissencephalic Cortical Dysplasia 
Obesity, Hyperphagia, and Developmental Delay  
Ogden syndrome  
Oliver-McFarlane syndrome  
Osteosclerotic Metaphyseal Dysplasia  
PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES  
Paraneoplastic Cerebellar Degeneration 
Partington Anderson Syndrome 
Periventricular Nodular Heterotopia 7  
Pierpont syndrome  
pontocerebellar hypoplasia +   
Porencephaly Cerebellar Hypoplasia Malformations 
PORETTI-BOLTSHAUSER SYNDROME  
primary cerebellar degeneration +   
Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy  
Pseudo-TORCH Syndrome +   
Rajab Interstitial Lung Disease with Brain Calcifications +   
Refsum Disease with Increased Pipecolic Acidemia  
Rhizomelic Short Stature with Microcephaly, Micrognathia, and Developmental Delay  
Roifman-Chitayat Syndrome 
Schisis Association 
septooptic dysplasia +   
Short Stature, Developmental Delay, and Congenital Heart Defects  
SIDDIQI SYNDROME  
sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay  
Snijders Blok-Fisher Syndrome  
Stevenson-Carey Syndrome 
Stiff Thumbs, with Brachydactyly Type A1 and Developmental Delay 
Subacute Cerebellar Degeneration 
succinic semialdehyde dehydrogenase deficiency  
syndromic microphthalmia 3  
syndromic microphthalmia 6  
Tetra Amelia with Ectodermal Dysplasia and Lacrimal Duct Abnormalities 
Turnpenny-Fry Syndrome  
Unilateral Radioulnar Synostosis with Developmental Retardation and Hypotonia 
VERVERI-BRADY SYNDROME  
WEISS-KRUSZKA SYNDROME  

Synonyms
Exact Synonyms: congenital cerebellar hypoplasia
Primary IDs: MESH:C562568
Xrefs: GARD:1194 ;   NCI:C98890
Definition Sources: https://en.wikipedia.org/wiki/Cerebellar_hypoplasia "DO", https://www.ninds.nih.gov/Disorders/All-Disorders/Cerebellar-Hypoplasia-Information-Page "DO"

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.