Gene Role Disease OMIM Descriptions Sources
POMT1 causing MDDGA1 236670 The disease is caused by mutations affecting the gene represented in this entry. An autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound mental retardation, and death usually in the first years of life. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle-eye-brain disease. [read more]
POMT2 causing MDDGA2 613150 The disease is caused by mutations affecting the gene represented in this entry. An autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound mental retardation, and death usually in the first years of life. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle-eye-brain disease. [read more] 15894594
16701995
17878207
19138766
22958903
RELN causing LIS2 257320 The disease is caused by mutations affecting the gene represented in this entry. A classic type lissencephaly associated with ataxia, mental retardation, seizures and abnormalities of the cerebellum, hippocampus and brainstem. [read more] 10973257
TMEM5 causing MDDGA10 615041 The disease is caused by mutations affecting the gene represented in this entry. An autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound mental retardation, and death usually in the first years of life. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle-eye-brain disease. [read more] 23519211
23217329
TUBA1A causing LIS3 611603 The disease is caused by mutations affecting the gene represented in this entry. A classic type lissencephaly associated with psychomotor retardation and seizures. Features include agyria or pachygyria or laminar heterotopia, severe mental retardation, motor delay, variable presence of seizures, and abnormalities of corpus callosum, hippocampus, cerebellar vermis and brainstem. [read more] 17584854
WDR62 causing MCPH2 604317 The disease is caused by mutations affecting the gene represented in this entry. A disease characterized by microcephaly, moderate to severe mental retardation, and various type of cortical malformations in most patients. Microcephaly is defined as a head circumference more than 3 standard deviations below the age-related mean. Cortical malformations include pachygyria with cortical thickening, microgyria, lissencephaly, hypoplasia of the corpus callosum, schizencephaly. All affected individuals have delayed psychomotor development. Some patients have seizures. [read more] 20890278
20729831
20890279
21496009