| DESMOSTEROLOSIS | |
| DESMOSTEROL-TO-CHOLESTEROL ENZYME, DCE | |
|
602398
OMIM = Online Mendelian Inheritance of Men | |
|
35107 | |
| Delta(24)-sterol reductase | |
| 1.3.1.72 | |
| very rare (9 cases) autosomal recessive mutation in the DHCR24 gene | |
| Laboratory findings | Desmosterol inc (plasma) Desmosterol inc (tissue) |
| Symptoms | arthrogryposis cardiac involvement, cardiac defects cleft palate clubfoot contractures, joints corpus callosum, agenesis/hypoplasia dysmorphism early death failure to thrive genitalia, ambigous hydrocephalus hypertonia, spasticity intellectual disability/intellectual developmental disorder macrocephaly (large calvaria, >2 SD for age) mental retardation microcephaly (<2 SD for age) motor retardation MRI, brain, abnormalities [-] nystagmus onset, fetus onset, neonatal seizures small chin or micrognathia speech development, delayed, abnormal strabismus |