616900.2.1

Country

Lebanon

HPO Terms

Profound global developmental delay; Developmental regression; Areflexia; Severe muscular hypotonia; Focal-onset seizure; Cerebral visual impairment; Respiratory insufficiency; Nasogastric tube feeding; Turricephaly; Osteoporosis

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Sex

Female

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_001163435.3:c.1363A>T	2		Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 3

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Remarks

Proband also had 2 brothers with a hematological disorder

References

Chong et al. 2016

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
616900.2.2	Lebanon	Profound global developmental delay; Developmental regression; Areflexia; Severe muscular hypotonia; Tonic seizure; Visual impairment; Respiratory insufficiency; Nasogastric tube feeding; Fasciculations; Osteoporosis; Death in childhood	Female	Yes	Yes	Double first cousin of 616900.2.1