- Oligohydramnios (HP:0001562): Diminished amniotic fluid volume in pregnancy. Evidence: PCS. Frequency: 1/29. (PMID:28191891)
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. (PMID:28191891)
- Mesomelia (HP:0003027): Shortening of the middle parts of the limbs (forearm and lower leg) in relation to the upper and terminal segments. Evidence: PCS. Frequency: 2/29. (PMID:28191891)
- Microcephaly (HP:0000252): Head circumference below 2 standard deviations below the mean for age and gender. Evidence: PCS. Frequency: 29/29. (PMID:28191891)
- Upslanted palpebral fissure (HP:0000582): The palpebral fissure inclination is more than two standard deviations above the mean for age (objective); or, the inclination of the palpebral fissure is greater than typical for age. Evidence: PCS. Frequency: 3/29. (PMID:28191891)
- Mild intellectual disability (HP:0001256): Mild intellectual disability (ID) is defined as a type of ID characterized by mildly sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 50-69. Evidence: PCS. Frequency: 15/29. (PMID:28191891)
- Brachydactyly (HP:0001156): Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here. Evidence: PCS. Frequency: 2/29. (PMID:28191891)
- 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: PCS. Frequency: 6/29. (PMID:28191891)
- Short stature (HP:0004322): A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). Evidence: PCS. Frequency: 29/29. (PMID:28191891)
- 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: 15/29. (PMID:28191891)
- Patellar hypoplasia (HP:0003065): Underdevelopment of the patella. Evidence: PCS. Frequency: 2/29. (PMID:28191891)
- Short metacarpal (HP:0010049): Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal. Evidence: PCS. Frequency: 3/29. (PMID:28191891)
- Dislocated radial head (HP:0003083): A dislocation of the head of the radius from its socket in the elbow joint. Evidence: PCS. Frequency: 2/29. (PMID:28191891)
- 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:28191891)
- Patellar aplasia (HP:0006443): Absence of the patella. Evidence: PCS. Frequency: 2/29. (PMID:28191891)
- 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: 7/29. (PMID:28191891)
- 11 pairs of ribs (HP:0000878): Presence of only 11 pairs of ribs. Evidence: PCS. Frequency: 1/29. (PMID:28191891)
- Convex nasal ridge (HP:0000444): Nasal ridge curving anteriorly to an imaginary line that connects the nasal root and tip. The nose appears often also prominent, and the columella low. Evidence: PCS. Frequency: 5/29. (PMID:28191891)
- Intrauterine growth retardation (HP:0001511): An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age. Evidence: PCS. (PMID:28191891)
- Hypoplasia of the radius (HP:0002984): Underdevelopment of the radius. Evidence: PCS. Frequency: 1/29. (PMID:28191891)
- Radioulnar synostosis (HP:0002974): An abnormal osseous union (fusion) between the radius and the ulna. Evidence: PCS. Frequency: 1/29. (PMID:28191891)
- Simplified gyral pattern (HP:0009879): An abnormality of the cerebral cortex with fewer gyri but with normal cortical thickness. This pattern is usually often associated with congenital microcephaly. Evidence: PCS. Frequency: 1/29. (PMID:28191891)
These phenotypes are associated with the disease microcephaly, short stature, and limb abnormalities (OMIM:617604).