Conditions / Syndrome
Joubert syndrome 14
info · Syndrome
A Joubert syndrome characterized by severe mental retardation, hypoplasia of the cerebellar vermis and molar tooth sign on brain imaging, hypotonia, abnormal breathing pattern in infancy, and dysmorphic facial features that has_material_basis_in homozygous or
A Joubert syndrome characterized by severe mental retardation, hypoplasia of the cerebellar vermis and molar tooth sign on brain imaging, hypotonia, abnormal breathing pattern in infancy, and dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM237 gene on chromosome 2q33.
Signs and symptoms
- Nystagmus
- Renal cyst
- Strabismus
- Hypertension
- Hydrocephalus
- Epicanthus
- Tented upper lip vermilion
- Hypotonia
- Ataxia
- Generalized hypotonia
Also known as: JBTS14