|
skos:definition |
JABL: A lissencephaly syndrome characterized by smoothness of the surface of the brain (lissencephaly type II), agyria, thickening of the cortex, and other brain abnormalities in association with severe mental retardation, eye defects, genitourinary abnormalities, hydronephrosis, and other defects with or without encephalocele (written plus or minus E). Many characteristics of this syndrome overlap those of the cerebro-oculo-cerebral syndrome.,MSH: Rare autosomal recessive lissencephaly type 2 associated with congenital MUSCULAR DYSTROPHY and eye anomalies (e.g., RETINAL DETACHMENT; CATARACT; MICROPHTHALMOS). It is often associated with additional brain malformations such as HYDROCEPHALY and cerebellar hypoplasia and is the most severe form of the group of related syndromes (alpha-dystroglycanopathies) with common congenital abnormalities in the brain, eye and muscle development.,NCI: A rare autosomal recessive inherited muscular dystrophy. It presents with generalized hypotonia, muscle weakness, mental retar
|
