Smith-Lemli-Opitz syndrome

Orpha code: 818OMIM code: 270400

Definition

Smith-Lemli-Opitz syndrome (SLOS) is characterized by multiple congenital anomalies, intellectual deficit, and behavioral problems.

Disease data
Classification

Malformation syndrome

Synonyms
7-dehydrocholesterol reductase deficiency
Niedobór reduktazy 7-dehydrocholesterolu
SLOS
Zespół RSH
RSH syndrome
SLOS
ORPHA code
818
OMIM code
270400
ICD10 code
Q87.1
ICD11 code
5C52.10

No additional description.

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