- Microcephaly (HP:0000252): Head circumference below 2 standard deviations below the mean for age and gender. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:329228)
- Abnormal cerebellum morphology (HP:0001317): Any structural abnormality of the cerebellum. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:329228)
- Abnormal cerebral morphology (HP:0002060): Any structural abnormality of the telencephalon, which is also known as the cerebrum. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:329228)
- Ventriculomegaly (HP:0002119): An increase in size of the ventricular system of the brain. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:329228)
- Small cerebral cortex (HP:0002472): Reduced size of the cerebral cortex. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:329228)
- Abnormal cerebral cortex morphology (HP:0002538): Any structural abnormality of the cerebral cortex. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:329228)
- Simplified gyral pattern (HP:0009879): An abnormality of the cerebral cortex with fewer gyri but with normal cortical thickness. This pattern is usually often associated with congenital microcephaly. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:329228)
- Brain atrophy (HP:0012444): Partial or complete wasting (loss) of brain tissue that was once present. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:329228)
- Abnormal neuron morphology (HP:0012757): A structural anomaly of a neuron. Neurons are electrically excitable cells that transmit signals throughout the body. Neurons employ both electrical and chemical components in the transmission of information. Neurons are connected to other neurons at synapses and connected to effector organs or cells at neuroeffector junctions. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:329228)
These phenotypes are associated with the disease Microcephalic primordial dwarfism due to ZNF335 deficiency (ORPHA:329228).