Al-Raqad syndrome is a congenital
autosomal recessive
In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome. The first variant is termed dominant and t ...
syndrome discovered by
Jordanian physician
Mohammad Al-Raqad
Mohammed Kasseb Al-Raqad is a Jordanian physician, a Brigadier general in the Jordanian Royal medical services .
It is characterized by:
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Microcephaly
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Growth delay
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Psycho-motor developmental delay
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Congenital hypotonia
Hypotonia is a state of low muscle tone (the amount of tension or resistance to stretch in a muscle), often involving reduced muscle strength. Hypotonia is not a specific medical disorder, but a potential manifestation of many different diseases a ...
.
Al-Raqad syndrome is caused by mutation of
DCPS gene.
References
External links
NCBIMalaCards: The human disease databaseThe Universal Protein Resource (UniProt)
Genetic syndromes
Autosomal recessive disorders
Syndromes with microcephaly
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