- distinctive facial features
- microcephaly with bitemporal narrowing, a short upturned nose with anteverted nares, unilateral or bilateral ptosis, epicanthus, and retrognathia
See Reference 1 below
- microcephaly
- intellectual disability or learning problems
- behavioral problems
- autism
- Feeding difficulties and growth delay
- Malformations
- heart
- lungs
- kidneys
- gastrointestinal tract
- genitals
- polydactyly
- syndactyly
- Cataract (congenital or acquired)
- Strabismus
- Demylenation of optic nerves
- Sclerosis of lateral geniculate bodes
- Opsoclonus
- Poor visual following behavior
- DHCR7 gene mutations
- Inherited in an autosomal recessive pattern.
oculoman