- Abnormal thumb morphology (HP:0001172): An abnormal structure of the first digit of the hand. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2048)
- Seizure (HP:0001250): A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2048)
- Global developmental delay (HP:0001263): A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2048)
- Gait disturbance (HP:0001288): The term gait disturbance can refer to any disruption of the ability to walk. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2048)
- Absent speech (HP:0001344): Complete lack of development of speech and language abilities. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2048)
- Abnormality of the voice (HP:0001608). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2048)
- Maternal diabetes (HP:0009800): Maternal diabetes can either be a gestational, mostly type 2 diabetes, or a type 1 diabetes. Essential is the resulting maternal hyperglycemia as a non-specific teratogen, imposing the same risk of congenital malformations to pregnant women with both type 1 and type2 diabetes. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2048)
- Cognitive impairment (HP:0100543): Abnormal cognition is characterized by deficits in thinking, reasoning, or remembering. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2048)
These phenotypes are associated with the disease Foix-Chavany-Marie syndrome (ORPHA:2048).