DISEASES

Disease-gene associations mined from literature

Human genes for Smith-Lemli-Opitz syndrome

Smith-Lemli-Opitz syndrome [DOID:14692]

An X-linked disease characterized by retardation, hyperactivity, hypotonia, broad thumbs, big first toes and a characteristic facial appearance including macrocephaly and has an X-linked recessive inheritance pattern.

Synonyms:  Smith-Lemli-Opitz syndrome,  DOID:14692,  SmithLemliOpitz syndrome,  Smith-Lemli-Opitz disease,  Smith-Lemli-Opitz disorder ...

Linkouts:  OMIM