615419.15

Country

United Arab Emirates

HPO Terms

Global developmental delay; Failure to thrive; Respiratory failure; Cerebral palsy; Seizure; Scoliosis; Generalized limb muscle atrophy; Dental crowding; Abnormal facial shape; Hypotonia

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Sex

Male

Family History

Yes

Parental Consanguinity

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_001350748.2:c.2621_2622insATACTAAA	2	NA	Hypotonia, Infantile, with Psychomotor Retardation and characteristic Facies 1

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References

Mahfouz et al. 2020