- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 1/6. (PMID:29861107)
- Stroke (HP:0001297): Sudden impairment of blood flow to a part of the brain due to occlusion or rupture of an artery to the brain. Evidence: PCS. Frequency: 1/6. (PMID:29861107)
- Femoral bowing (HP:0002980): Bowing (abnormal curvature) of the femur. Evidence: PCS. Frequency: 3/12. (PMID:29861107)
- 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: 1/6. (PMID:29861107)
- Inguinal hernia (HP:0000023): Protrusion of the contents of the abdominal cavity through the inguinal canal. Evidence: PCS. Frequency: 1/6. (PMID:29861107)
- Unilateral renal agenesis (HP:0000122): A unilateral form of agenesis of the kidney. Evidence: PCS. Frequency: 1/6. (PMID:29861107)
- Elevated circulating alkaline phosphatase concentration (HP:0003155): Abnormally increased serum levels of alkaline phosphatase activity. Evidence: PCS. Frequency: 6/6. (PMID:29861107)
- Short femur (HP:0003097): An abnormal shortening of the femur. Evidence: PCS. Frequency: 1/6. (PMID:29861107)
- Gastroesophageal reflux (HP:0002020): A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter. Evidence: PCS. Frequency: 1/6. (PMID:29861107)
- Metaphyseal spurs (HP:0005054): Bony outgrowths that extend laterally from the margin of the metaphysis. Evidence: PCS. Frequency: 1/6. (PMID:29861107)
- Short nasal bridge (HP:0003194): Decreased superior-inferior length of the nasal bridge, which is the saddle-shaped area that includes the nasal root and the lateral aspects of the nose. Evidence: PCS. Frequency: 1/6. (PMID:29861107)
- Subperiosteal bone formation (HP:0031485): The formation of new bone along the cortex and underneath the periosteum of a bone. Evidence: PCS. Frequency: 1/6. (PMID:29861107)
- Motor delay (HP:0001270): A type of Developmental delay characterized by a delay in acquiring motor skills. Evidence: PCS. Frequency: 3/6. (PMID:29861107)
- 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: 2/6. (PMID:29861107)
- Recurrent fractures (HP:0002757): The repeated occurrence of bone fractures (implying an abnormally increased tendency for fracture). Evidence: PCS. Frequency: 1/6. (PMID:29861107)
- Ventriculomegaly (HP:0002119): An increase in size of the ventricular system of the brain. Evidence: PCS. Frequency: 1/6. (PMID:29861107)
- Narrow chest (HP:0000774): Reduced width of the chest from side to side, associated with a reduced distance from the sternal notch to the tip of the shoulder. Evidence: PCS. Frequency: 1/6. (PMID:29861107)
- Patent ductus arteriosus (HP:0001643): In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences. Evidence: PCS. Frequency: 1/6. (PMID:29861107)
- Short ribs (HP:0000773): Reduced rib length. Evidence: PCS. Frequency: 2/12. (PMID:29861107)
- Ovarian cyst (HP:0000138): The presence of one or more cysts of the ovary. Evidence: PCS. Frequency: 1/6. (PMID:29861107)
- Short long bone (HP:0003026): One or more abnormally short long bone. Evidence: PCS. Frequency: 1/6. (PMID:29861107)
- Congenital nystagmus (HP:0006934): Nystagmus dating from or present at birth. Evidence: PCS. Frequency: 1/6. (PMID:29861107)
- Polyhydramnios (HP:0001561): The presence of excess amniotic fluid in the uterus during pregnancy. Evidence: PCS. Frequency: 3/6. (PMID:29861107)
- Absent speech (HP:0001344): Complete lack of development of speech and language abilities. Evidence: PCS. Frequency: 1/6. (PMID:29861107)
- Delayed speech and language development (HP:0000750): A degree of language development that is significantly below the norm for a child of a specified age. Evidence: PCS. Frequency: 1/6. (PMID:29861107)
- Splenic cyst (HP:0030423): A closed sac located in the spleen. Evidence: PCS. Frequency: 1/6. (PMID:29861107)
- Wide nasal bridge (HP:0000431): Increased breadth of the nasal bridge (and with it, the nasal root). Evidence: PCS. Frequency: 1/6. (PMID:29861107)
- Feeding difficulties (HP:0011968): Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it. Evidence: PCS. Frequency: 3/6. (PMID:29861107)
- Respiratory distress (HP:0002098): Respiratory distress is objectively observable as the physical or emotional consequences from the experience of dyspnea. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea. Evidence: PCS. (PMID:29861107)
- Wide cranial sutures (HP:0010537): An abnormally increased width of the cranial sutures for age-related norms (generally resulting from delayed closure). Evidence: PCS. Frequency: 1/6. (PMID:29861107)
- Depressed nasal bridge (HP:0005280): Posterior positioning of the nasal root in relation to the overall facial profile for age. Evidence: PCS. Frequency: 1/6. (PMID:29861107)
- Third trimester onset (HP:0034197): This term refers to a phenotypic feature that was first observed prior to birth during the third trimester, which is defined as 28 weeks and zero days (28+0) of gestation and beyond. Evidence: PCS. Frequency: 5/6. (PMID:29861107)
- Fractured rib (HP:0041159): A partial or complete breakage of the rib. Evidence: PCS. Frequency: 1/6. (PMID:29861107)
- Undulate ribs (HP:0010561): An abnormally wavy surface or edge of the ribs. Evidence: PCS. Frequency: 1/6. (PMID:29861107)
- Umbilical hernia (HP:0001537): Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect. Evidence: PCS. Frequency: 1/6. (PMID:29861107)
- 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:29861107)
- High forehead (HP:0000348): An abnormally increased height of the forehead. Evidence: PCS. Frequency: 1/6. (PMID:29861107)
- Hyperparathyroidism (HP:0000843): Excessive production of parathyroid hormone (PTH) by the parathyroid glands. Evidence: PCS. Frequency: 6/6. (PMID:29861107)
- Frontal bossing (HP:0002007): Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline. Evidence: PCS. Frequency: 1/6. (PMID:29861107)
- Communicating hydrocephalus (HP:0001334): A form of hydrocephalus in which there is no visible obstruction to the flow of the cerebrospinal fluid between the ventricles and subarachnoid space. Evidence: PCS. Frequency: 1/6. (PMID:29861107)
- Thin ribs (HP:0000883): Ribs with a reduced diameter. Evidence: PCS. Frequency: 1/6. (PMID:29861107)
- 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: 1/6. (PMID:29861107)
- Enlarged kidney (HP:0000105): An abnormal increase in the size of the kidney. Evidence: PCS. Frequency: 1/6. (PMID:29861107)
- 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: 1/6. (PMID:29861107)
These phenotypes are associated with the disease hyperparathyroidism, transient neonatal (OMIM:618188).