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Details of RareLED ID 2007

Primary information
ID	2007
Disorder	Farber lipogranulomatosis
Inheritance	Autosomal recessive
Organ Affected	Eye,Liver, Spleen,Skin,Bones,Nervous System
Onset	Early
Genotype-Phenotype Correlation	c.665C?>?A (p.T222K), was from a patient with a severe form of FD, T42A and T42M mutations in exon 2 accounted for more than half of the total number of reported cases of SMA-PME. ASAH1 SNPs (rs7830490, and rs3753118) associated with schizophrenia.
Refrences	30029679