Results 11 -
20
of
233
for
Cerebral hypoplasia
- ... 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 ...
- ... 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. ...
- ... cause a brain malformation called isolated hemimegalencephaly. This brain abnormality is an enlargement of one of the two ... However, unlike the mutations that cause those other abnormalities of brain growth, the genetic changes related to isolated hemimegalencephaly ...
- ... or pink birthmark called a port-wine birthmark, brain abnormalities, and increased pressure in the eye (glaucoma) or ... can also cause port-wine birthmarks without the brain or eye abnormalities that are often associated with Sturge-Weber syndrome ( ...
- ... dystonia 4 do not have hypomyelination or other brain abnormalities like those that occur in people with TUBB4A- ...
- ... this mutation tend to have somewhat less severe brain abnormalities than people with other EXOSC3 gene mutations. Changes ... how these alterations lead to the problems with brain development and loss of motor neurons characteristic of PCH1B. More About This Health Condition ... Baas F, van Dijk T. EXOSC3 Pontocerebellar Hypoplasia. 2014 Aug 21 [updated 2020 Sep 24]. In: ...
- ... that this problem with neuronal migration causes a brain abnormality called cobblestone lissencephaly, in which the surface of the brain lacks the normal folds and grooves and instead ...
- ... control movement, but the relationship between these specific brain abnormalities and the abnormal thiamine transporter is unknown. More ...
- ... with this form of CLN8 disease have mild brain abnormalities resulting from nerve cell death in the brain, but the cause of this cell death is ...
