228000.1.1

Country

Saudi Arabia

HPO Terms

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

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

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References

Chedrawi et al. 2012

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
228000.1.2	Saudi Arabia	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	Female	Yes	Yes	Fraternal twin sister of 228000.1.1
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