| LATHOSTEROLOSIS | |
|
607330
OMIM = Online Mendelian Inheritance of Men | |
|
46059 | |
| Lathosterol oxidase | |
| 1.3.3.2 | |
| very rare autosomal recessive mutation in the SC5DL gene SLOS-like phenotype | |
| Laboratory findings | Lathosterol inc (plasma) |
| Symptoms | cataract cholestasis cirrhosis or fibrosis of liver cleft palate clubfoot corneal clouding developmental delay dysmorphism growth retardation, poor growth hearing defect, deafness hypospadia hypotonia intellectual disability/intellectual developmental disorder liver failure liver involvement or dysfunction microcephaly (<2 SD for age) onset, infancy onset, neonatal polydactyly psychomotor retardation ptosis (drooping eyelid) skeletal changes, skeletal abnormalities small chin or micrognathia |