Conditions / Genetic
primary autosomal recessive microcephaly 19
info · Genetic
A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the COPB2 gene on chromosome 3q23.
Signs and symptoms
- Decreased body weight
- Microcephaly
- Failure to thrive in infancy
- Delayed CNS myelination
- Hypoplasia of the corpus callosum
- Severe global developmental delay
- Extra-axial cerebrospinal fluid accumulation
- Cerebral visual impairment
- Ventriculomegaly
- Spasticity
Also known as: MCPH19