- Poor speech (HP:0002465, a Human Phenotype Ontology term). Evidence: PCS. Frequency: 1/1. (PMID:31125343)
- Small nail (HP:0001792, a Human Phenotype Ontology term): A nail that is diminished in length and width, i.e., underdeveloped nail. Evidence: PCS. Frequency: 1/1. (PMID:31125343)
- Clinodactyly of the 4th toe (HP:0011918, a Human Phenotype Ontology term): Bending or curvature of a fourth toe in the tibial direction (i.e., towards the big toe). Evidence: PCS. Frequency: 1/1. (PMID:31125343)
- Alopecia (HP:0001596, a Human Phenotype Ontology term): A noncongenital process of hair loss, which may progress to partial or complete baldness. Evidence: PCS. Frequency: 1/1. (PMID:31125343)
- Snoring (HP:0025267, a Human Phenotype Ontology term): Deep, noisy breathing during sleep, accompanied by hoarse or harsh sounds, is caused by the vibration of respiratory structures, especially the soft palate. This vibration results in sound due to obstructed air movement during breathing while sleeping. Evidence: PCS. Frequency: 1/1. (PMID:31125343)
- Fragile nails (HP:0001808, a Human Phenotype Ontology term): Nails that easily break. Evidence: PCS. Frequency: 1/1. (PMID:31125343)
- Aggressive behavior (HP:0000718, a Human Phenotype Ontology term): Behavior or an act aimed at harming a person, animal, or physical property (e.g., acts of physical violence; shouting, swearing, and using harsh language; slashing someone's tires). Evidence: PCS. Frequency: 1/1. (PMID:31125343)
- Trichorrhexis nodosa (HP:0009886, a Human Phenotype Ontology term): Trichorrhexis nodosa is the formation of nodes along the hair shaft through which breakage readily occurs. It is thus a focal defect in the hair fiber that is characterized by thickening or weak points (nodes) that cause the hair to break off easily. The result is defective, abnormally fragile hair. Evidence: PCS. Frequency: 1/1. (PMID:31125343)
- Sinus bradycardia (HP:0001688, a Human Phenotype Ontology term): Bradycardia related to a mean resting sinus rate of less than 50 beats per minute. Evidence: PCS. Frequency: 1/1. (PMID:31125343)
- Clinodactyly of the 5th toe (HP:0001864, a Human Phenotype Ontology term): Bending or curvature of a fifth toe in the tibial direction (i.e., towards the big toe). Evidence: PCS. Frequency: 1/1. (PMID:31125343)
- Increased carrying angle (HP:0003102, a Human Phenotype Ontology term): An abnormal increase in the carrying angle, which is the angle he long axis of the extended forearm as it lies lateral to the long axis of the arm. Evidence: PCS. Frequency: 1/1. (PMID:31125343)
- Developmental regression (HP:0002376, a Human Phenotype Ontology term): Loss of developmental skills, as manifested by loss of developmental milestones. Evidence: PCS. Frequency: 1/1. Onset: Childhood onset (HP:0011463, a Human Phenotype Ontology term). (PMID:31125343)
- Joint hypermobility (HP:0001382, a Human Phenotype Ontology term): The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes. Evidence: PCS. Frequency: 1/1. (PMID:31125343)
- Dysarthria (HP:0001260, a Human Phenotype Ontology term): Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed. Evidence: PCS. Frequency: 1/1. (PMID:31125343)
- Global developmental delay (HP:0001263, a Human Phenotype Ontology term): 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: PCS. Frequency: 1/1. (PMID:31125343)
- Microdontia (HP:0000691, a Human Phenotype Ontology term): Decreased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD below mean. Alternatively, an apparently decreased maximum width of tooth. Evidence: PCS. Frequency: 1/1. (PMID:31125343)
- Lower limb pain (HP:0012514, a Human Phenotype Ontology term): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the leg. Evidence: PCS. Frequency: 1/1. (PMID:31125343)
- 2-3 toe syndactyly (HP:0004691, a Human Phenotype Ontology term): Syndactyly with fusion of toes two and three. Evidence: PCS. Frequency: 1/1. (PMID:31125343)
- Fatigue (HP:0012378, a Human Phenotype Ontology term): A subjective feeling of tiredness characterized by a lack of energy and motivation. Evidence: PCS. Frequency: 1/1. (PMID:31125343)
- Tricuspid regurgitation (HP:0005180, a Human Phenotype Ontology term): Failure of the tricuspid valve to close sufficiently upon contraction of the right ventricle, causing blood to regurgitate (flow backward) into the right atrium. Evidence: PCS. Frequency: 1/1. (PMID:31125343)
- Impulsivity (HP:0100710, a Human Phenotype Ontology term): Acting on the spur of the moment or on a momentary basis without consideration of outcomes; having difficulty establishing or following plans; experiencing a sense of urgency and engaging in behavior that is uninhibited, cannot be inhibited, and is uncontrolled. The possibility of repression is inconceivable. Evidence: PCS. Frequency: 1/1. (PMID:31125343)
- Keratosis pilaris (HP:0032152, a Human Phenotype Ontology term): An anomaly of the hair follicles of the skin that typically presents as small, rough, brown folliculocentric papules distributed over characteristic areas of the skin, particularly the outer-upper arms and thighs. Evidence: PCS. Frequency: 1/1. (PMID:31125343)
- Autosomal recessive inheritance (HP:0000007, a Human Phenotype Ontology term): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:31125343)
- Recurrent fever (HP:0001954, a Human Phenotype Ontology term): Periodic (episodic or recurrent) bouts of fever. Evidence: PCS. Frequency: 1/1. (PMID:31125343)
- Recurrent otitis media (HP:0000403, a Human Phenotype Ontology term): Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media. Evidence: PCS. Frequency: 1/1. (PMID:31125343)
- Short fifth metatarsal (HP:0004704, a Human Phenotype Ontology term): Short (hypoplastic) fifth metatarsal bone. Evidence: PCS. Frequency: 1/1. (PMID:31125343)
- Elfin facies (HP:0004428, a Human Phenotype Ontology term): This is a description previously used to describe a facial form characterized by a short, upturned nose, wide mouth, widely spaced eyes, and full cheeks. Because of the imprecision in this definition it is preferable to describe these features precisely. This term is retained because it was often used in the past, but it should not be used for new annotations. Evidence: PCS. Frequency: 1/1. (PMID:31125343)
- Plagiocephaly (HP:0001357, a Human Phenotype Ontology term): Asymmetric head shape, which is usually a combination of unilateral occipital flattening with ipsilateral frontal prominence, leading to rhomboid cranial shape. Evidence: PCS. Frequency: 1/1. (PMID:31125343)
- Mitral regurgitation (HP:0001653, a Human Phenotype Ontology term): An abnormality of the mitral valve characterized by insufficiency or incompetence of the mitral valve resulting in retrograde leaking of blood through the mitral valve upon ventricular contraction. Evidence: PCS. Frequency: 1/1. (PMID:31125343)
- Pili torti (HP:0003777, a Human Phenotype Ontology term): Pili (from Latin pilus, hair) torti (from Latin tortus, twisted) refers to short and brittle hairs that appear flattened and twisted when viewed through a microscope. Evidence: PCS. Frequency: 1/1. (PMID:31125343)
- Sparse lateral eyebrow (HP:0005338, a Human Phenotype Ontology term): Decreased density/number and/or decreased diameter of lateral eyebrow hairs. Evidence: PCS. Frequency: 1/1. (PMID:31125343)
- Short fourth metatarsal (HP:0004689, a Human Phenotype Ontology term): Short fourth metatarsal bone. Evidence: PCS. Frequency: 1/1. (PMID:31125343)
These phenotypes are associated with the disease pili torti-developmental delay-neurological abnormalities syndrome (OMIM:261990, an entry in Online Mendelian Inheritance in Man).