Cerebellar Hypoplasia - Type Margari (2004)

What is Cerebellar Hypoplasia - Type Margari (2004)?

Cerebellar Hypoplasia - Type Margari (2004) is a rare disease.
There are currently no additional known synonyms for this rare genetic disease.

It is very difficult to place the 3 brothers reported by Margari et al., (2004). They had a non-progressive cerebellar ataxia and global delay. They were said to be dysmorphic (no pictures published) and the following were listed: small jaw, high arched palate, low-set ears, a short neck, prominent forehead, clinodactyly, and irregular widely-spaced teeth. One had mildly enlarged liver. Neurologically there was a combination of a cerebellar ataxia and spasticity
and there was hypoplasia of both the vermis and the cerebellar hemispheres. All the brothers had an oculomotor apraxia and persuit and saccades were affected, there being jerky, conjugage eye movements

* This information is courtesy of the L M D.

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What gene changes cause Cerebellar Hypoplasia - Type Margari (2004)?

The syndrome is inherited in the following inheritance pattern/s:

Autosomal Recessive - Autosomal recessive inheritance means an affected individual receives one copy of a mutated gene from each of their parents, giving them two copies of a mutated gene. Parents, who carry only one copy of the gene mutation will not generally show any symptoms but have a 25% chance of passing the copies of the gene mutations onto each of their children.


X-Linked Recessive - Syndromes inherited in an X-linked recessive pattern generally only affect males. Males only have one X chromosome, and so one copy of a gene mutation on it causes the syndrome. Females, with two X chromosomes, only one of which will be mutated, are not likely to be affected.


Uncertain - The exact mode of inheritance was unknown at the time this entry was recorded.


In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation that occurs during the reproductive process.

The syndrome can be caused by mutations in the following gene/s location/s:
N/A

What are the main symptoms of Cerebellar Hypoplasia - Type Margari (2004)?

The typical symptoms of the syndrome are:
N/A

How does someone get tested for Cerebellar Hypoplasia - Type Margari (2004)?

The initial testing for Cerebellar Hypoplasia - Type Margari (2004) can begin with facial genetic analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the type of genetic testing needed. A consultation with a genetic counselor and then a geneticist will follow.

Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.

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