Conditions / Genetic
CK syndrome
info · Genetic
A lipid metabolism disorder characterized by increased methylsterol levels in cells and cerebrospinal fluid, mild to severe cognitive impairment, seizures, microcephaly, cerebral cortical malformations, dysmorphic facial features, and thin body habitus that ha
A lipid metabolism disorder characterized by increased methylsterol levels in cells and cerebrospinal fluid, mild to severe cognitive impairment, seizures, microcephaly, cerebral cortical malformations, dysmorphic facial features, and thin body habitus that has_material_basis_in hemizygous mutation in the NSDHL gene on chromosome Xq28.
Signs and symptoms
- Epicanthus
- Upslanted palpebral fissure
- Strabismus
- Seizure
- Sleep disturbance
- Generalized hypotonia
- Irritability
- Aggressive behavior
- Dental crowding
- Hyperlordosis
Also known as: X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome