616263.1.2

Country

Saudi Arabia

HPO Terms

Motor delay; Distal muscle weakness; Ataxia; Sensorineural hearing impairment; Intellectual disability; Dysmetria; Achilles tendon contracture; Failure to thrive; Thin upper lip vermilion; Cerebellar hypoplasia

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Sex

Male

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_016077.5:c.254A>C	2		Neurologic, Endocrine, and Pancreatic Disease, Multisystem, Infantile-Onset 1

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Remarks

Brother of 616263.1.1

References

Picker-Minh et al. 2016

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
616263.1.1	Saudi Arabia	Motor delay; Distal muscle weakness; Ataxia; Facial palsy; Sensorineural hearing impairment; Intellectual disability; Dysmetria; Achilles tendon contracture; Failure to thrive; Exotropia; Thin upper lip vermilion	Female	Yes	Yes
616263.1.3	Saudi Arabia	Motor delay; Ataxia; Sensorineural hearing impairment; Intellectual disability; Achilles tendon contracture; Exocrine pancreatic insufficiency	Male	Yes	Yes	Relative of 616263.1.1
616263.1.4	Saudi Arabia	Motor delay; Sensorineural hearing impairment; Intellectual disability; Exocrine pancreatic insufficiency; Exotropia	Male	Yes	Yes	Brother of 616263.1.3, Relative of 616263.1.1