228000.1.2

Country

Saudi Arabia

HPO Terms

Global developmental delay; Hypotonia; Seizure; Delayed speech and language development; Knee flexion contracture; Subcutaneous nodule; Global brain atrophy; Demyelinating peripheral neuropathy; Hip dysplasia; Increased hepatic echogenicity

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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_177924.5:c.290T>G	2		Farber Lipogranulomatosis

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Remarks

Fraternal twin sister of 228000.1.1

References

Chedrawi et al. 2012

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
228000.1.1	Saudi Arabia	Global developmental delay; Hypotonia; Myoclonic spasms; Delayed speech and language development; Intellectual disability; Frontal bossing; Nystagmus; Abnormal visual fixation; Subcutaneous nodule; Skeletal muscle atrophy; Generalized myoclonic seizure; Flexion contracture; Sensory neuropathy; Motor polyneuropathy; Corneal opacity	Male	Yes	Yes
228000.1.3	Saudi Arabia		Male	Yes		Father of 228000.1.1
228000.1.4	Saudi Arabia		Female	Yes		Mother of 228000.1.1
228000.1.5	Saudi Arabia		Female	Yes	Yes	Sister of 228000.1.1