- Shallow orbits (HP:0000586): Reduced depth of the orbits associated with prominent-appearing ocular globes. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:73230)
- Abnormal thorax morphology (HP:0000765): Any abnormality of the thorax (the region of the body formed by the sternum, the thoracic vertebrae and the ribs). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:73230)
- Thin ribs (HP:0000883): Ribs with a reduced diameter. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:73230)
- Absent speech (HP:0001344): Complete lack of development of speech and language abilities. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:73230)
- Dysphagia (HP:0002015): Difficulty in swallowing. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:73230)
- 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:73230)
- Recurrent aspiration pneumonia (HP:0002100): Increased susceptibility to aspiration pneumonia, defined as pneumonia due to breathing in foreign material, as manifested by a medical history of repeated episodes of aspiration pneumonia. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:73230)
- Ventriculomegaly (HP:0002119): An increase in size of the ventricular system of the brain. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:73230)
- Delayed gross motor development (HP:0002194): A type of motor delay characterized by a delay in acquiring the ability to control the large muscles of the body for walking, running, sitting, and crawling. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:73230)
- Slender long bone (HP:0003100): Reduced diameter of a long bone. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:73230)
- Decreased muscle mass (HP:0003199). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:73230)
- Penile hypospadias (HP:0003244): Location of the urethral opening on the inferior aspect of the penis. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:73230)
- Abnormal vertebral body morphology (HP:0003312): Abnormal form of vertebral body, which is the central cylindrical portion of the vertebra that together with other structures such as the vertebral arch, pedicles, laminae, spinous process, transverse processes, and articular facets makes up a vertebra. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:73230)
- Postnatal growth retardation (HP:0008897): Slow or limited growth after birth. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:73230)
- Short 5th finger (HP:0009237): Hypoplasia (congenital reduction in size) of the fifth finger, also known as the little finger. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:73230)
- Triangular shaped distal phalanges of the hand (HP:0009875). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:73230)
- Short distal phalanx of finger (HP:0009882): Short distance from the end of the finger to the most distal interphalangeal crease or the distal interphalangeal joint flexion point. That is, hypoplasia of one or more of the distal phalanx of finger. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:73230)
- Hepatic hemangioma (HP:0031207): A congenital vascular malformation in the liver composed of masses of blood vessels that are atypical or irregular in arrangement and size. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:73230)
- Clubbing of fingers (HP:0100759): Terminal broadening of the fingers (distal phalanges of the fingers). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:73230)
- 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:73230)
- Abnormal diaphysis morphology (HP:0000940): An abnormality of the structure or form of the diaphysis, i.e., of the main or mid-section (shaft) of a long bone. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:73230)
- 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:73230)
- Generalized hypotonia (HP:0001290): Generalized muscular hypotonia (abnormally low muscle tone). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:73230)
- Hepatomegaly (HP:0002240): Abnormally increased size of the liver. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:73230)
- Elevated circulating hepatic transaminase concentration (HP:0002910): Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:73230)
- Metaphyseal widening (HP:0003016): Abnormal widening of the metaphyseal regions of long bones. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:73230)
- Generalized bone demineralization (HP:0006462): A generalized decrease in bone mineral density. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:73230)
- Abnormal bone ossification (HP:0011849): Any anomaly in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:73230)
- Hyperostosis (HP:0100774): Excessive growth or abnormal thickening of bone tissue. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:73230)
- Large fontanelles (HP:0000239): In newborns, the two frontal bones, two parietal bones, and one occipital bone are joined by fibrous sutures, which form a small posterior fontanelle, and a larger, diamond-shaped anterior fontanelle. These regions allow for the skull to pass the birth canal and for later growth. The fontanelles gradually ossify, whereby the posterior fontanelle usually closes by eight weeks and the anterior fontanelle by the 9th to 16th month of age. Large fontanelles are diagnosed if the fontanelles are larger than age-dependent norms. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:73230)
- Triangular face (HP:0000325): Facial contour, as viewed from the front, triangular in shape, with breadth at the temples and tapering to a narrow chin. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:73230)
- 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:73230)
- 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:73230)
- Micrognathia (HP:0000347): Developmental hypoplasia of the mandible. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:73230)
- High forehead (HP:0000348): An abnormally increased height of the forehead. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:73230)
- Proptosis (HP:0000520): An eye that is protruding anterior to the plane of the face to a greater extent than is typical. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:73230)
These phenotypes are associated with the disease Ossification anomalies-psychomotor developmental delay syndrome (ORPHA:73230).