- Bitemporal hollowing (HP:0025386): Depression of profile in both temporal regions. Evidence: PCS. Frequency: 1/3. (PMID:32639540)
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 2/3. (PMID:32639540)
- Sloping forehead (HP:0000340): Inclination of the anterior surface of the forehead from the vertical more than two standard deviations above the mean (objective); or apparently excessive posterior sloping of the forehead in a lateral view. Evidence: PCS. Frequency: 2/3. (PMID:32639540)
- 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: 2/3. (PMID:32639540)
- Long philtrum (HP:0000343): Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border. Evidence: PCS. Frequency: 1/3. (PMID:32639540)
- Hypoplasia of the brainstem (HP:0002365): Underdevelopment of the brainstem. Evidence: PCS. Frequency: 1/3. (PMID:32639540)
- Flexion contracture (HP:0001371): A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints. Evidence: PCS. Frequency: 2/3. (PMID:32639540)
- 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: PCS. Frequency: 1/3. (PMID:32639540)
- Exaggerated cupid's bow (HP:0002263): More pronounced paramedian peaks and median notch of the Cupid's bow. Evidence: PCS. Frequency: 1/3. (PMID:32639540)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 1/3. (PMID:32639540)
- Fusion of the left and right thalami (HP:0010664): A developmental defect characterized by fusion of the left and right halves of the thalamus. Evidence: PCS. Frequency: 1/3. (PMID:32639540)
- Dry skin (HP:0000958): Skin characterized by the lack of natural or normal moisture. Evidence: PCS. Frequency: 1/3. (PMID:32639540)
- Ventricular septal defect (HP:0001629): A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum. Evidence: PCS. Frequency: 1/3. (PMID:32639540)
- Smooth philtrum (HP:0000319): Flat skin surface, with no ridge formation in the central region of the upper lip between the nasal base and upper vermilion border. Evidence: PCS. Frequency: 1/3. (PMID:32639540)
- Depressed nasal tip (HP:0000437): Decreased distance from the nasal tip to the nasal base. Evidence: PCS. Frequency: 2/3. (PMID:32639540)
- 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: PCS. Frequency: 2/3. (PMID:32639540)
- Molar tooth sign on MRI (HP:0002419): An abnormal appearance of the midbrain in axial magnetic resonance imaging in which the elongated superior cerebellar peduncles give the midbrain an appearance reminiscent of a molar or wisdom tooth. Evidence: PCS. Frequency: 1/3. (PMID:32639540)
- Thin upper lip vermilion (HP:0000219): Height of the vermilion of the upper lip in the midline more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the upper lip in the frontal view (subjective). Evidence: PCS. Frequency: 2/3. (PMID:32639540)
- CNS hypomyelination (HP:0003429): Reduced amount of myelin in the central nervous system resulting from defective myelinogenesis. Evidence: PCS. Frequency: 1/3. (PMID:32639540)
- Accessory spleen (HP:0001747): An accessory spleen is a round, iso-echogenic, homogenic and smooth structure and is seen as a normal variant mostly on the medial contour of the spleen, near the hilus or around the lower pole. This has no pathogenic relevance. Evidence: PCS. Frequency: 1/3. (PMID:32639540)
- Wide intermamillary distance (HP:0006610): A larger than usual distance between the left and right nipple. Evidence: PCS. Frequency: 1/3. (PMID:32639540)
- Optic disc hypoplasia (HP:0007766): Underdevelopment of the optic disc, that is of the optic nerve head, where ganglion cell axons exit the eye to form the optic nerve. Evidence: PCS. Frequency: 1/3. (PMID:32639540)
- Simple ear (HP:0020206): The pinna has fewer folds and grooves than usual. Evidence: PCS. Frequency: 1/3. (PMID:32639540)
- Cerebellar vermis hypoplasia (HP:0001320): Underdevelopment of the vermis of cerebellum. Evidence: PCS. Frequency: 3/6. (PMID:32639540)
- Spastic tetraplegia (HP:0002510): Spastic paralysis affecting all four limbs. Evidence: PCS. Frequency: 2/3. (PMID:32639540)
- Wide nasal bridge (HP:0000431): Increased breadth of the nasal bridge (and with it, the nasal root). Evidence: PCS. Frequency: 1/3. (PMID:32639540)
- Rhombencephalosynapsis (HP:0031913): Rhombencephalosynapsis is a rare brain malformation defined by midline fusion of the cerebellar hemispheres with partial or complete loss of the intervening vermis. Evidence: PCS. Frequency: 1/3. (PMID:32639540)
- Obstructive sleep apnea (HP:0002870): Obstructive Sleep Apnea is a condition characterized by the obstruction of the airway and pauses in breathing during sleep, which occur multiple times throughout the night. It is related to the relaxation of muscle tone that typically happens during sleep, leading to a partial collapse of the soft tissues in the airway and causing airflow obstruction. Evidence: PCS. Frequency: 1/3. (PMID:32639540)
- Hypoplasia of the corpus callosum (HP:0002079): Underdevelopment of the corpus callosum. Evidence: PCS. Frequency: 1/3. (PMID:32639540)
- Cerebellar hypoplasia (HP:0001321): Cerebellar hypoplasia is a descriptive term implying a cerebellum with a reduced volume, but a normal shape and is stable over time. Evidence: PCS. Frequency: 1/3. (PMID:32639540)
- Dilated fourth ventricle (HP:0002198): An abnormal dilatation of the fourth cerebral ventricle. Evidence: PCS. Frequency: 1/3. (PMID:32639540)
- Secondary microcephaly (HP:0005484): Head circumference which falls below 2 standard deviations below the mean for age and gender because of insufficient head growth after birth. Evidence: PCS. Frequency: 2/3. (PMID:32639540)
- Severe global developmental delay (HP:0011344): A severe delay in the achievement of motor or mental milestones in the domains of development of a child. Evidence: PCS. Frequency: 2/3. (PMID:32639540)
- Central nervous system cyst (HP:0030724): A fluid-filled sac (cyst) located within the central nervous system. Evidence: PCS. Frequency: 1/3. (PMID:32639540)
- 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:32639540)
- Oval face (HP:0000300): A face with a rounded and slightly elongated outline. Evidence: PCS. Frequency: 1/3. (PMID:32639540)
- 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: 1/3. (PMID:32639540)
These phenotypes are associated with the disease neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia (OMIM:619306).