Here we have shown that deletion of Chd7 from cerebellar granule cell progenitors (GCps) results in reduced GCp proliferation, cerebellar hypoplasia, developmental delay, and motor deficits in mice. [jci.org]

Individuals with cerebellar hypoplasia may present with developmental delay, seizures, poor balance and co-ordination, involuntary eye movements (nystagmus) and learning difficulties. It may be genetic or non-genetic in origin. [brainabnormalities.org.uk]

The clinical findings, the severity of movement disorder and the developmental delay do not correlate with the degree of pontine or cerebellar hypoplasia on MRI. [rarediseases.org]

Three patients had a global developmental delay (moderate in 2 cases, mild in 1), requiring special class. Four patients had predominantly expressive language impairment, one patient severe behavioral disorder as obsessive-compulsive disorder. [thieme-connect.com]

This hormonal pattern suggests a primary deficiency of the gonadotroph and lactotroph cells, rather than a hypothalamic lesion. [ncbi.nlm.nih.gov]

Cerebellar hypoplasia associated with hypoplasia or aplasia of the cerebellar or vertebral arteries suggests a vascular etiology. Genetic mutations with somatic mosaicism may also have a role. [advancedradteaching.com]

These results suggest that the 2 brain anomalies were probably linked to inherited disorders coupled to some toxic and infectious causes. Keywords : Cerebellar hypoplasia, hydrocephalus, lamb, pathology Correspondence : E. [revmedvet.com]

Cardiopulmonary radiography showed a fixed elevation of the right diaphragm suggesting a congenital right phrenic nerve paresis with a peribronchovascular trauma. [tmj.ro]

Abstract The association of cerebellar ataxia and non-neurological syndromes is a well known phenomenon. A 20-year-old male patient presented with a longstanding and non-progressive ataxia. [ncbi.nlm.nih.gov]

These are a heterogeneous group of ataxias caused by: malformation and hypoplasias of the cerebellum: usually autosomal dominant inheritance onset during childhood characterised by hypotonia and cerebellar ataxia IQ is normal good prognosis, some improve [gpnotebook.co.uk]

These subjects show signs of cerebellar ataxia and are mentally retarded. MRI analysis demonstrated hypoplasia of the cerebellum and the cerebellar vermis as well as a small nucleus dentatus and a thin corpus callosum but no other malformations. [jmg.bmj.com]

De Lahunta A (1971) Comments on cerebellar ataxia and its congenital transmission in cats by feline panleukopenia virus. JAVMA 158 (6), Suppl 2, 901-906 PubMed. [vetstream.com]

Abstract The association of cerebellar ataxia and non-neurological syndromes is a well known phenomenon. A 20-year-old male patient presented with a longstanding and non-progressive ataxia. [ncbi.nlm.nih.gov]

These are a heterogeneous group of ataxias caused by: malformation and hypoplasias of the cerebellum: usually autosomal dominant inheritance onset during childhood characterised by hypotonia and cerebellar ataxia IQ is normal good prognosis, some improve [gpnotebook.co.uk]

These subjects show signs of cerebellar ataxia and are mentally retarded. MRI analysis demonstrated hypoplasia of the cerebellum and the cerebellar vermis as well as a small nucleus dentatus and a thin corpus callosum but no other malformations. [jmg.bmj.com]

De Lahunta A (1971) Comments on cerebellar ataxia and its congenital transmission in cats by feline panleukopenia virus. JAVMA 158 (6), Suppl 2, 901-906 PubMed. [vetstream.com]

Individuals with cerebellar hypoplasia may present with developmental delay, seizures, poor balance and co-ordination, involuntary eye movements (nystagmus) and learning difficulties. It may be genetic or non-genetic in origin. [brainabnormalities.org.uk]

She is also having episodes of nystagmus. Rapid eye movement, which is an indication of something going on with her brain. [youcaring.com]

Intellectual disability and cerebellar signs of visual impairment, nystagmus and ataxia follow the initial presentation. [rarediseases.org]

A neurological syndrome became evident by 5 to 7 years of age and included cerebellar ataxia, dysarthria, and external ophthalmoplegia; there were no symptoms of mental retardation, spastic paraparesis, or sensory loss. [ncbi.nlm.nih.gov]