Al Kaissi Syndrome; Alkas

Description

Al Kaissi syndrome is an autosomal recessive developmental disorder characterized by growth retardation, spine malformation, particularly of the cervical spine, dysmorphic facial features, and delayed psychomotor development with moderate to severe intellectual disability (summary by Windpassinger et al., 2017).

Clinical Features

Top most frequent phenotypes and symptoms related to Al Kaissi Syndrome; Alkas

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Growth delay
  • Hypertelorism
  • Abnormal facial shape
  • Ptosis
  • Low-set ears

And another 37 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Alternative names

Al Kaissi Syndrome; Alkas Is also known as growth retardation, spine malformation, dysmorphic facies, and developmental delay.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Al Kaissi Syndrome; Alkas Recommended genes panels

Panel Name, Specifity and genes Tested/covered
CDK10.

By Fulgent Genetics Fulgent Genetics (United States).

CDK10
Specificity
100 %
Genes
100 %
Tempus xO assay.

By Tempus Labs, Inc. (United States).

BCL6, RHEB, RIPK1, RIPK2, RIPK3, RIT1, BCL7A, BCL9, BCR, ROBO2, ROCK1, ROCK2, ROR1, ROR2, ROS1, RPA1, BDNF, RPL5, RPN1, RPS6KB1 , (...)

View the complete list with 1627 more genes
Specificity
1 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

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