Results 21 -
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614
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Cerebral hypoplasia
- ... feature of Joubert syndrome is a combination of brain abnormalities that together are known as the molar tooth ... tooth sign got its name because the characteristic brain abnormalities resemble the cross-section of a molar tooth ...
- ... associated with an unusually small brain and multiple brain abnormalities. Affected individuals develop seizures that can occur many ... before birth may cause microcephaly and the underlying brain abnormalities found in people with microcephaly-capillary malformation syndrome. ...
- ... rare disorder characterized by impaired development and structural brain abnormalities. This condition was previously described as a congenital ... infancy, severe to profound intellectual disability, and related brain abnormalities. Although the mechanism is unclear, researchers believe that ...
- ... growth of neurites within the brain leads to brain abnormalities that underlie intellectual disability and other neurological problems ... complex, with other brain malformations 1 (CDCBM1). The brain abnormalities associated with this condition lead to intellectual disability, ...
- ... rare disorder characterized by impaired development and structural brain abnormalities. The region of chromosome 14 that is deleted ... before birth, which appears to underlie the structural brain abnormalities and severe developmental problems characteristic of FOXG1 syndrome. ...
- ... with RNAse T2-deficient leukoencephalopathy. This disorder involves brain abnormalities leading to neurological problems that become apparent during ... how loss of this protein results in the brain abnormalities and neurological problems characteristic of RNAse T2-deficient ...
- ... spastic quadriplegia). Eventually, breathing may be impaired. The brain abnormalities can contribute to vision problems (cortical visual impairment). ... of normal RAB18 activity leads to eye problems, brain abnormalities, and other features of Warburg micro syndrome or ...
- ... intellectual disability, developmental delay, distinctive facial features, and brain abnormalities. All MN1 gene mutations that cause MCTT syndrome ... Variants Cause a Recognizable Syndrome with Craniofacial and Brain Abnormalities. Am J Hum Genet. 2020 Jan 2;106( ...
- ... acrocallosal syndrome, a rare condition characterized by certain brain abnormalities, extra fingers and toes (polydactyly), and distinctive facial ... patterning may help explain why mutations lead to brain abnormalities, polydactyly, and the other features of acrocallosal syndrome. ...
- ... symptoms.People with Hartsfield syndrome often have other brain abnormalities associated with holoprosencephaly. Affected individuals may have a malfunctioning pituitary, which is a gland located at the base of the brain that produces several hormones. Because pituitary dysfunction leads ...
