- Abnormality of the kidney (HP:0000077): An abnormality of the kidney. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1860)
- Hydrocephalus (HP:0000238): Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1860)
- Macrocephaly (HP:0000256): Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1860)
- Wide anterior fontanel (HP:0000260): Enlargement of the anterior fontanelle with respect to age-dependent norms. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1860)
- Hearing impairment (HP:0000365): A decreased magnitude of the sensory perception of sound. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1860)
- 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:1860)
- 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: Very frequent (HP:0040281). (ORPHA:1860)
- Platyspondyly (HP:0000926): A flattened vertebral body shape with reduced distance between the vertebral endplates. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1860)
- Abnormal metaphysis morphology (HP:0000944): An abnormality of one or more metaphysis, i.e., of the somewhat wider portion of a long bone that is adjacent to the epiphyseal growth plate and grows during childhood. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1860)
- Hypoplastic ilia (HP:0000946): Underdevelopment of the ilium. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1860)
- Acanthosis nigricans (HP:0000956): A dermatosis characterized by thickened, hyperpigmented plaques, typically on the intertriginous surfaces and neck. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1860)
- 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: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1860)
- Split hand (HP:0001171): A condition in which middle parts of the hand (fingers and metacarpals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic middle fingers over absent middle fingers as far as oligo- or monodactyl hands. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1860)
- Seizure (HP:0001250): A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1860)
- Hypotonia (HP:0001252): Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1860)
- Joint stiffness (HP:0001387): Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1860)
- Polyhydramnios (HP:0001561): The presence of excess amniotic fluid in the uterus during pregnancy. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1860)
- Redundant skin (HP:0001582): Loose and sagging skin often associated with loss of skin elasticity. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1860)
- 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1860)
- 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1860)
- Frontal bossing (HP:0002007): Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1860)
- Respiratory insufficiency (HP:0002093). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1860)
- Ventriculomegaly (HP:0002119): An increase in size of the ventricular system of the brain. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1860)
- Profound intellectual disability (HP:0002187): Profound intellectual disability (ID) is defined as a type of ID characterized by profoundly sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) below 20. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1860)
- Gray matter heterotopia (HP:0002282): Heterotopia or neuronal heterotopia are macroscopic clusters of misplaced neurons (gray matter), most often situated along the ventricular walls or within the subcortical white matter. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1860)
- Skeletal dysplasia (HP:0002652): A general term describing features characterized by abnormal development of bones and connective tissues. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1860)
- Cloverleaf skull (HP:0002676): Trilobar skull configuration when viewed from the front or behind. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1860)
- Kyphosis (HP:0002808): Exaggerated anterior convexity of the thoracic vertebral column. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1860)
- Femoral bowing (HP:0002980): Bowing (abnormal curvature) of the femur. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1860)
- Micromelia (HP:0002983): The presence of abnormally small extremities. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1860)
- Short femur (HP:0003097): An abnormal shortening of the femur. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1860)
- Short greater sciatic notch (HP:0003185): The sacroiliac joint in the bony pelvis connects the sacrum and the ilium of the pelvis, which are joined by strong ligaments. The notch is located directly superior to the joint. This term refers to a reduction in the height of the notch. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1860)
- Depressed nasal bridge (HP:0005280): Posterior positioning of the nasal root in relation to the overall facial profile for age. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1860)
- Bowing of the long bones (HP:0006487): A bending or abnormal curvature of a long bone. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1860)
- Aplasia/Hypoplasia of the lungs (HP:0006703). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1860)
- Excessive wrinkled skin (HP:0007392). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1860)
- Lethal short-limbed short stature (HP:0008909). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1860)
- Increased nuchal translucency (HP:0010880): Nuchal translucency is the sonographic appearance of subcutaneous accumulation of liquid in the back of the fetal neck in the first trimester of pregnancy (11-14 gestational weeks of pregnancy). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1860)
- Flat face (HP:0012368): Absence of concavity or convexity of the face when viewed in profile. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1860)
- Abnormal sacroiliac joint morphology (HP:0100781): An anomaly of the sacroiliac joint, which connects the base of the spine (sacrum) to the ilium (a hip bone). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1860)
These phenotypes are associated with the disease Thanatophoric dysplasia type 1 (ORPHA:1860).