Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Ontology Browser

Term:
Cerebellar Atrophy, Visual Impairment, and Psychomotor Retardation (DOID:9001428)
Annotations: Rat: (1) Mouse: (1) Human: (2) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1)
Parent Terms Term With Siblings Child Terms
3p- syndrome 
AL-RAQAD SYNDROME  
ALAZAMI-YUAN SYNDROME  
Alice in Wonderland Syndrome 
amblyopia +   
Aniridia, Partial, with Unilateral Renal Agenesis and Psychomotor Retardation 
Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction 
apraxia +   
Asparagine Synthetase Deficiency  
Au-Kline Syndrome  
autosomal recessive spinocerebellar ataxia 19  
autosomal recessive spinocerebellar ataxia 2  
Bainbridge-Ropers Syndrome  
Basel-Vanagaite-Smirin-Yosef syndrome  
blindness +   
Bowen-Conradi syndrome  
CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES  
Cerebellar Atrophy, Visual Impairment, and Psychomotor Retardation  
Cerebral Visual Impairment and Intellectual Disability  
CHOREA, CHILDHOOD-ONSET, WITH PSYCHOMOTOR RETARDATION  
Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features  
Congenital Cataracts, Hearing Loss, and Neurodegeneration  
Corneal Cerebellar Syndrome 
Creutzfeldt-Jakob Disease, Heidenhain Variant 
De Hauwere Leroy Adriaenssens syndrome 
Developmental Delay, Epilepsy, and Neonatal Diabetes  
Diaminopentanuria 
Diplopia 
Edinburgh Malformation Syndrome 
enhanced S-cone syndrome  
Friedreich ataxia +   
Fumaric Aciduria  
Galloway-Mowat syndrome +   
Genitopatellar Syndrome  
GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15  
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy 
Growth Retardation, Small and Puffy Hands and Feet, and Eczema 
HAREL-YOON SYNDROME  
HEART AND BRAIN MALFORMATION SYNDROME  
Hemianopsia 
Hereditary Spinal Ataxia 
infantile cerebellar-retinal degeneration  
Infantile Hypotonia with Psychomotor Retardation +   
INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC ARRHYTHMIA  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN  
Keppen-Lubinsky Syndrome  
Kozlowski Rafinski Klicharska Syndrome 
Loucks-Innes Syndrome  
MacDermot Winter Syndrome 
MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION  
Megarbane Syndrome 
mitochondrial pyruvate carrier deficiency  
Mousa Al din Al Nassar Syndrome 
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay 
myoclonic cerebellar dyssynergia +  
nerve fibre bundle defect 
NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES  
night blindness +   
Ogden syndrome  
OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME  
olivopontocerebellar atrophy +   
Opitz Trigonocephaly Syndrome  
PHGDH deficiency  
Photophobia +   
Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy  
Posterior Column Ataxia 
PSAT deficiency  
PSPH deficiency  
Psychomotor Agitation +   
Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism  
scotoma +  
sepiapterin reductase deficiency  
Siegler Brewer Carey Syndrome 
Spatial Visualization, Aptitude For 
Spinocerebellar Ataxia, Autosomal Recessive 3 
Spinocerebellar Ataxia, Autosomal Recessive 4  
Spinocerebellar Ataxia, X-Linked, 2 
Spinocerebellar Ataxia, X-Linked, 4 
Spinocerebellar Ataxias +   
Susac Syndrome 
THAUVIN-ROBINET-FAIVRE SYNDROME  
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet 
Verheij Syndrome  
Vision, Low 
ZTTK Syndrome  

Synonyms
Exact Synonyms: CAVIPMR
Primary IDs: OMIM:616875 ;   RDO:9001165

paths to the root

NHLBI Logo

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