- Sparse eyebrow (HP:0045075): Decreased density/number of eyebrow hairs. Evidence: PCS. Frequency: 2/2. (PMID:34899143)
- Moderate global developmental delay (HP:0011343): A moderate delay in the achievement of motor or mental milestones in the domains of development of a child. Evidence: PCS. Frequency: 4/4. (PMID:22581230)
- Smooth philtrum (HP:0000319): Flat skin surface, with no ridge formation in the central region of the upper lip between the nasal base and upper vermilion border. Evidence: PCS. Frequency: 7/7. (PMID:34899143;PMID:22581230)
- Prominent forehead (HP:0011220): Forward prominence of the entire forehead, due to protrusion of the frontal bone. Evidence: PCS. Frequency: 1/2. (PMID:34899143)
- Hypertelorism (HP:0000316): Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes). Evidence: PCS. Frequency: 5/5. (PMID:22581230)
- Long fingers (HP:0100807): The middle finger is more than 2 SD above the mean for newborns 27 to 41 weeks EGA or above the 97th centile for children from birth to 16 years of age AND the five digits retain their normal length proportions relative to each other (i.e., it is not the case that the middle finger is the only lengthened digit), or, Fingers that appear disproportionately long compared to the palm of the hand. Evidence: TAS. (OMIM:611174)
- Down-sloping shoulders (HP:0200021): Low set, steeply sloping shoulders. Evidence: PCS. Frequency: 9/12. (PMID:34899143;PMID:22581230)
- Prolonged QRS complex (HP:0006677): Increased time for the complex comprised of the Q wave, R wave, and S wave as measured by the electrocardiogram (EKG).. In adults, normal values are 0.06 - 0.10 sec. Evidence: PCS. Frequency: 4/6. (PMID:34899143;PMID:22581230)
- Intellectual disability (HP:0001249): The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence. Evidence: PCS. Frequency: 2/2. (PMID:34899143)
- Hip dysplasia (HP:0001385): The presence of developmental dysplasia of the hip. Evidence: PCS. Frequency: 4/4. (PMID:22581230)
- 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: PCS. Frequency: 2/2. (PMID:34899143)
- Long toe (HP:0010511): Toes that appear disproportionately long compared to the foot. Evidence: PCS. Frequency: 2/5. (PMID:22581230)
- Tapered finger (HP:0001182): The gradual reduction in girth of the finger from proximal to distal. Evidence: PCS. Frequency: 2/5. (PMID:22581230)
- High myopia (HP:0011003): A severe form of myopia with greater than -6.00 diopters. Evidence: PCS. Frequency: 3/4. (PMID:22581230)
- Sensorineural hearing impairment (HP:0000407): A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve. Evidence: PCS. Frequency: 4/4. (PMID:22581230)
- Pectus excavatum (HP:0000767): A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance. Evidence: PCS. Frequency: 1/3. (PMID:22581230)
- Dental malocclusion (HP:0000689): Dental malocclusion refers to an abnormality of the occlusion, or alignment, of the teeth and the way the upper and lower teeth fit together, resulting in overcrowding of teeth or in abnormal bite patterns. Evidence: PCS. Frequency: 1/1. (PMID:22581230)
- Autosomal recessive inheritance (HP:0000007): 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:22581230)
- Microcytic anemia (HP:0001935): A kind of anemia in which the volume of the red blood cells is reduced. Evidence: PCS. Frequency: 4/4. (PMID:22581230)
- Clinodactyly of the 5th finger (HP:0004209): Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger). Evidence: PCS. Frequency: 2/5. (PMID:22581230)
- Short 2nd finger (HP:0009536): Hypoplasia of the second finger, also known as the index finger. Evidence: TAS. (OMIM:611174)
- Mitral regurgitation (HP:0001653): 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: 1/4. (PMID:22581230)
- Low-set ears (HP:0000369): Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear. Evidence: PCS. Frequency: 6/6. (PMID:34899143;PMID:22581230)
- Hypochromic anemia (HP:0001931): A type of anemia characterized by an abnormally low concentration of hemoglobin in the erythrocytes. Evidence: PCS. Frequency: 4/4. (PMID:22581230)
- Brachycephaly (HP:0000248): An abnormality of skull shape characterized by a decreased anterior-posterior diameter. That is, a cephalic index greater than 81%. Alternatively, an apparently shortened anteroposterior dimension (length) of the head compared to width. Evidence: PCS. Frequency: 5/7. (PMID:34899143;PMID:22581230)
- Sparse lateral eyebrow (HP:0005338): Decreased density/number and/or decreased diameter of lateral eyebrow hairs. Evidence: PCS. Frequency: 5/5. (PMID:22581230)
- Preauricular skin tag (HP:0000384): A rudimentary tag of skin often containing ear tissue including a core of cartilage and located just anterior to the auricle (outer part of the ear). Evidence: PCS. Frequency: 1/5. (PMID:22581230)
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 2/2. (PMID:34899143)
- Long philtrum (HP:0000343): Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border. Evidence: PCS. Frequency: 5/5. (PMID:22581230)
- Complete atrioventricular canal defect (HP:0001674): A congenital heart defect characterized by a specific combination of heart defects with a common atrioventricular valve, primum atrial septal defect and inlet ventricular septal defect. Evidence: PCS. Frequency: 1/5. (PMID:22581230)
- Inguinal hernia (HP:0000023): Protrusion of the contents of the abdominal cavity through the inguinal canal. Evidence: PCS. Frequency: 4/5. (PMID:22581230)
- Anteverted nares (HP:0000463): Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip). Evidence: PCS. Frequency: 5/5. (PMID:22581230)
- Low posterior hairline (HP:0002162): Hair on the neck extends more inferiorly than usual. Evidence: PCS. Frequency: 5/5. (PMID:22581230)
- Blepharophimosis (HP:0000581): A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures. Evidence: PCS. Frequency: 2/2. (PMID:34899143)
- Sparse hair (HP:0008070): Reduced density of hairs. Evidence: PCS. Frequency: 2/2. (PMID:34899143)
- Hyperplasia of midface (HP:0012371): Abnormally anterior positioning of the infraorbital and perialar regions, or increased convexity of the face, or increased nasolabial angle. The midface includes the maxilla, the cheeks, the zygomas, and the infraorbital and perialar regions of the face. Evidence: PCS. Frequency: 2/2. (PMID:34899143)
- Osteopenia (HP:0000938): Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5. Evidence: PCS. Frequency: 5/6. (PMID:34899143;PMID:22581230)
- Enamel hypoplasia (HP:0006297): Developmental hypoplasia of the dental enamel. Evidence: PCS. Frequency: 5/5. (PMID:34899143;PMID:22581230)
- Thin upper lip vermilion (HP:0000219): Height of the vermilion of the upper lip in the midline more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the upper lip in the frontal view (subjective). Evidence: PCS. Frequency: 6/7. (PMID:34899143;PMID:22581230)
- Recurrent fractures (HP:0002757): The repeated occurrence of bone fractures (implying an abnormally increased tendency for fracture). Evidence: PCS. Frequency: 2/2. (PMID:34899143)
- High palate (HP:0000218): Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective). Evidence: PCS. Frequency: 5/5. (PMID:22581230)
- Sparse eyelashes (HP:0000653): Decreased density/number of eyelashes. Evidence: PCS. Frequency: 2/2. (PMID:34899143)
- Wide mouth (HP:0000154): Distance between the oral commissures more than 2 SD above the mean. Alternatively, an apparently increased width of the oral aperture (subjective). Evidence: PCS. Frequency: 7/7. (PMID:34899143;PMID:22581230)
- Craniosynostosis (HP:0001363): Craniosynostosis refers to the premature closure of the cranial sutures. Primary craniosynostosis refers to the closure of one or more sutures due to abnormalities in skull development, and secondary craniosynostosis results from failure of brain growth. Evidence: PCS. Frequency: 3/5. (PMID:22581230)
- Wide nasal bridge (HP:0000431): Increased breadth of the nasal bridge (and with it, the nasal root). Evidence: PCS. Frequency: 7/7. (PMID:34899143;PMID:22581230)
- Abnormal number of hair whorls (HP:0010813): More than two clockwise hair whorls. Evidence: PCS. Frequency: 5/5. (PMID:22581230)
- Everted lower lip vermilion (HP:0000232): An abnormal configuration of the lower lip such that it is turned outward i.e., everted, with the Inner aspect of the lower lip vermilion (normally opposing the teeth) being visible in a frontal view. Evidence: PCS. Frequency: 2/2. (PMID:34899143)
- Hypoparathyroidism (HP:0000829): A condition caused by a deficiency of parathyroid hormone characterized by hypocalcemia and hyperphosphatemia. Evidence: PCS. Frequency: 1/3. (PMID:22581230)
- Telecanthus (HP:0000506): Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi. Evidence: PCS. Frequency: 2/2. (PMID:34899143)
- Hypodontia (HP:0000668): The absence of five or less teeth from the normal series by a failure to develop. Evidence: PCS. Frequency: 1/1. (PMID:22581230)
- Syndactyly (HP:0001159): Webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers or toes in a proximo-distal axis are referred to as "symphalangism". Evidence: PCS. Frequency: 2/2. (PMID:22581230)
- Atrial septal defect (HP:0001631): Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum. Evidence: PCS. Frequency: 1/4. (PMID:22581230)
- Neck pterygia (HP:0009759): Pterygia affecting the neck. Evidence: PCS. Frequency: 5/7. (PMID:34899143;PMID:22581230)
- Micrognathia (HP:0000347): Developmental hypoplasia of the mandible. Evidence: PCS. Frequency: 3/5. (PMID:22581230)
- Cryptorchidism (HP:0000028): Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum. Evidence: PCS. Frequency: 5/5. (PMID:34899143;PMID:22581230)
These phenotypes are associated with the disease craniofacial dysplasia - osteopenia syndrome (OMIM:611174).