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Ontology Browser

Term:
LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA (DOID:9002648)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
lissencephaly +     
Baraitser-Winter syndrome +   
cerebellar hyplasia/atrophy, epilepsy, and global developmental delay  
Classical Lissencephalies and Subcortical Band Heterotopias +   
Cobblestone Lissencephaly +   
Familial Lissencephaly with Cleft Palate and Cerebellar Hypoplasia 
Frontotemporal Pachygyria 
Lissencephaly 3 +   
Lissencephaly 4  
Lissencephaly 5  
Lissencephaly 6, with Microcephaly  
LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA  
A severe neurodevelopmental disorder characterized by lack of psychomotor development, facial dysmorphism, arthrogryposis, and early-onset intractable seizures resulting in death in infancy. (OMIM)
Lissencephaly 8  
LISSENCEPHALY 9 WITH COMPLEX BRAINSTEM MALFORMATION  
Massa Casaer Ceulemans Syndrome 
Mental Retardation, Autosomal Recessive 34, with variant lissencephaly  
Miller-Dieker lissencephaly syndrome  
NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY  
Norman-Roberts syndrome  
Pachygyria with Mental Retardation, Seizures, and Arachnoid Cysts 
PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES  
Partial Lissencephaly 
POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS  
Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy  
Winter Harding Hyde Syndrome 

Synonyms
Exact Synonyms: LIS7
Primary IDs: OMIM:616342 ;   RDO:9001636

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