Phenotypes associated with the disease Miller-Dieker lissencephaly syndrome (DECIPHER:21):
- Microcephaly (HP:0000252): Head circumference below 2 standard deviations below the mean for age and gender. Evidence: IEA. (DECIPHER:21)
- Lissencephaly (HP:0001339): A spectrum of malformations of cortical development caused by insufficient neuronal migration that subsumes the terms agyria, pachygyria and subcortical band heterotopia. See also neuropathological definitions for 2-, 3-, and 4-layered lissencephaly. Evidence: IEA. (DECIPHER:21)
- Midface retrusion (HP:0011800): Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle. Evidence: IEA. (DECIPHER:21)
- Abnormal heart morphology (HP:0001627): Any structural anomaly of the heart. Evidence: IEA. (DECIPHER:21)
- Frontal bossing (HP:0002007): Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline. Evidence: IEA. (DECIPHER:21)