S S S- S0 S1 S2 S3 S4 S5 S6 S7 S8 S9 SA SB SC SD SE SF SG SH SI SJ SK SL SM SN SO SP SQ SR SS ST SU SV SW SY
Sjogren Larsson syndrome
[An autosomal recessive neurocutaneous disorder characterized by severe ichthyosis MENTAL RETARDATION; SPASTIC PARAPLEGIA; and congenital ICHTHYOSIS. It is caused by mutation of gene encoding microsomal fatty ALDEHYDE DEHYDROGENASE leading to defect in fatty alcohol metabolism. ( MSH )]
UMLS (CSP) C0037231- Congenital Abnormality
- Disease or Syndrome
Relation/PAR: Ichthyosis
inborn lipid storage disorder
inborn lipid storage disorder
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