- Hypocalcemic seizures (HP:0002199). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:93324)
- Hypocalcemia (HP:0002901): The concentration of calcium in the blood circulation is below the lower limit of normal. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:93324)
- Congenital hypoparathyroidism (HP:0008198): Deficiency of parathyroid hormone with congenital onset. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:93324)
- Microcephaly (HP:0000252): Head circumference below 2 standard deviations below the mean for age and gender. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93324)
- Delayed cranial suture closure (HP:0000270): Infants normally have two fontanels at birth, the diamond-shaped anterior fontanelle at the junction of the coronal and sagittal sutures, and the posterior fontanelle at the intersection of the occipital and parietal bones. The posterior fontanelle usually closes by the 8th week of life, and the anterior fontanel closes by the 18th month of life on average. This term applies if there is delay of closure of the fontanelles beyond the normal age. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93324)
- Full cheeks (HP:0000293): Increased prominence or roundness of soft tissues between zygomata and mandible. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93324)
- 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93324)
- Carious teeth (HP:0000670): Caries is a multifactorial bacterial infection affecting the structure of the tooth. This term has been used to describe the presence of more than expected dental caries. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93324)
- Thin ribs (HP:0000883): Ribs with a reduced diameter. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93324)
- Growth delay (HP:0001510): A deficiency or slowing down of growth pre- and postnatally. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93324)
- Intrauterine growth retardation (HP:0001511): An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93324)
- Short foot (HP:0001773): A measured foot length that is more than 2 SD below the mean for a newborn of 27 - 41 weeks gestation, or foot that is less than the 3rd centile for individuals from birth to 16 years of age (objective). Alternatively, a foot that appears disproportionately short (subjective). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93324)
- Delayed skeletal maturation (HP:0002750): A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93324)
- Hypocalcemic tetany (HP:0003472): Hyperexcitability of the neuromuscular system related to abnormally low level of calcium in the blood, resulting in carpopedal or generalized spasms. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93324)
- Decreased skull ossification (HP:0004331): A reduction in the magnitude or amount of ossification of the skull. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93324)
- Calvarial osteosclerosis (HP:0005450): An increase in bone density affecting the calvaria (roof of the skull). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93324)
- Cortical thickening of long bone diaphyses (HP:0005791): Abnormal thickening of the cortex of the diaphyseal region of long bones. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93324)
- Thin long bone diaphyses (HP:0006470): Decreased width of the diaphysis of long bones. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93324)
- Thin clavicle (HP:0006645): Abnormally reduced diameter (cross section) of the clavicles. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93324)
- Postnatal growth retardation (HP:0008897): Slow or limited growth after birth. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93324)
- Stenosis of the medullary cavity of the long bones (HP:0100254). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93324)
- Small hand (HP:0200055): Disproportionately small hand. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93324)
These phenotypes are associated with the disease Autosomal recessive Kenny-Caffey syndrome (ORPHA:93324).