- Toe syndactyly (HP:0001770): Webbing or fusion of the toes, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the toes in a proximo-distal axis are referred to as "Symphalangism". Evidence: PCS. Frequency: 5/7. (PMID:34587386)
- 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: 6/9. (PMID:34587386)
- 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: 1/10. (PMID:34587386)
- 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: PCS. Frequency: 2/8. (PMID:34587386)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 8/10. (PMID:34587386)
- Spastic gait (HP:0002064): Spasticity is manifested by increased stretch reflex which is intensified with movement velocity. This results in excessive and inappropriate muscle activation which can contribute to muscle hypertonia. Spastic gait is characterized by manifestations such as muscle hypertonia, stiff knee, and circumduction of the leg. Evidence: PCS. Frequency: 1/10. (PMID:34587386)
- Sparse eyebrow (HP:0045075): Decreased density/number of eyebrow hairs. Evidence: PCS. Frequency: 3/8. (PMID:34587386)
- Median pseudocleft lip (HP:0034185): A type of mild median cleft lip in which the central tubercle of the upper lip is replaced by a mucosal cleft in the midline. Evidence: PCS. Frequency: 3/8. (PMID:34587386)
- Hypoplastic toenails (HP:0001800): Underdevelopment of the toenail. Evidence: PCS. Frequency: 2/8. (PMID:34587386)
- Long fingers (HP:0100807): The middle finger is more than 2 SD above the mean for newborns 27 to 41 weeks EGA or above the 97th centile for children from birth to 16 years of age AND the five digits retain their normal length proportions relative to each other (i.e., it is not the case that the middle finger is the only lengthened digit), or, Fingers that appear disproportionately long compared to the palm of the hand. Evidence: PCS. Frequency: 3/8. (PMID:34587386)
- 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: PCS. Frequency: 1/8. (PMID:34587386)
- Intellectual disability (HP:0001249): The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence. Evidence: PCS. Frequency: 8/10. (PMID:34587386)
- Microcephaly (HP:0000252): Head circumference below 2 standard deviations below the mean for age and gender. Evidence: PCS. Frequency: 9/9. (PMID:34587386)
- Hypoplasia of the corpus callosum (HP:0002079): Underdevelopment of the corpus callosum. Evidence: PCS. Frequency: 3/5. (PMID:34587386)
- Dilated fourth ventricle (HP:0002198): An abnormal dilatation of the fourth cerebral ventricle. Evidence: PCS. Frequency: 2/5. (PMID:34587386)
- 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: PCS. Frequency: 6/10. (PMID:34587386)
- Ectrodactyly (HP:0100257): A condition in which middle parts of the hands and/or feet (digits and meta-carpals and -tarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe/fingers over absent 2nd or 3rd toes/fingers as far as oligo- or monodactyl hands and/or feet. Evidence: PCS. Frequency: 1/10. (PMID:34587386)
- 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:34587386)
- Sacral dimple (HP:0000960): A cutaneous indentation resulting from tethering of the skin to underlying structures (bone) of the intergluteal cleft. Evidence: PCS. Frequency: 1/9. (PMID:34587386)
- Short philtrum (HP:0000322): Distance between nasal base and midline upper lip vermilion border more than 2 SD below the mean. Alternatively, an apparently decreased distance between nasal base and midline upper lip vermilion border. Evidence: PCS. Frequency: 8/8. (PMID:34587386)
- Hydronephrosis (HP:0000126): Severe distention of the kidney with dilation of the renal pelvis and calices. Evidence: PCS. Frequency: 1/9. (PMID:34587386)
- Patent foramen ovale (HP:0001655): Failure of the foramen ovale to seal postnatally, leaving a potential conduit between the left and right cardiac atria. Evidence: PCS. Frequency: 2/8. (PMID:34587386)
- Sparse lateral eyebrow (HP:0005338): Decreased density/number and/or decreased diameter of lateral eyebrow hairs. Evidence: PCS. Frequency: 3/8. (PMID:34587386)
- Wide nose (HP:0000445): Interalar distance more than two standard deviations above the mean for age, i.e., an apparently increased width of the nasal base and alae. Evidence: PCS. Frequency: 8/8. (PMID:34587386)
- Hypertonia (HP:0001276): A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move. Evidence: PCS. Frequency: 1/8. (PMID:34587386)
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 2/10. (PMID:34587386)
- Preauricular skin tag (HP:0000384): A rudimentary tag of skin often containing ear tissue including a core of cartilage and located just anterior to the auricle (outer part of the ear). Evidence: PCS. Frequency: 1/8. (PMID:34587386)
- 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: 3/8. (PMID:34587386)
- 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: PCS. Frequency: 3/8. (PMID:34587386)
- Delayed fine motor development (HP:0010862): A type of motor delay characterized by a delay in acquiring the ability to control the fingers and hands. Evidence: PCS. Frequency: 3/10. (PMID:34587386)
- Hypoplasia of the phalanges of the toes (HP:0010746). Evidence: PCS. Frequency: 2/8. (PMID:34587386)
- Intraventricular arachnoid cyst (HP:0012488): An arachnoid cyst located within the ventricular system. Evidence: PCS. Frequency: 1/5. (PMID:34587386)
- Unsteady gait (HP:0002317). Evidence: PCS. Frequency: 1/10. (PMID:34587386)
- High palate (HP:0000218): Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective). Evidence: PCS. Frequency: 8/8. (PMID:34587386)
- Cupped ear (HP:0000378): Laterally protruding ear that lacks antihelical folding (including absence of inferior and superior crura). Evidence: PCS. Frequency: 8/8. (PMID:34587386)
- Wide intermamillary distance (HP:0006610): A larger than usual distance between the left and right nipple. Evidence: PCS. Frequency: 4/8. (PMID:34587386)
- Congenital diaphragmatic hernia (HP:0000776): The presence of a hernia of the diaphragm present at birth. Evidence: PCS. Frequency: 1/9. (PMID:34587386)
- Hyperextensible skin (HP:0000974): A condition in which the skin can be stretched beyond normal, and then returns to its initial position. Evidence: PCS. Frequency: 2/8. (PMID:34587386)
- Hyperreflexia (HP:0001347): Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles. Evidence: PCS. Frequency: 1/8. (PMID:34587386)
- Cerebellar vermis hypoplasia (HP:0001320): Underdevelopment of the vermis of cerebellum. Evidence: PCS. Frequency: 3/5. (PMID:34587386)
- Wide mouth (HP:0000154): Distance between the oral commissures more than 2 SD above the mean. Alternatively, an apparently increased width of the oral aperture (subjective). Evidence: PCS. Frequency: 8/8. (PMID:34587386)
- Delayed speech and language development (HP:0000750): A degree of language development that is significantly below the norm for a child of a specified age. Evidence: PCS. Frequency: 2/10. (PMID:34587386)
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: PCS. Frequency: 2/9. (PMID:34587386)
- Wide nasal bridge (HP:0000431): Increased breadth of the nasal bridge (and with it, the nasal root). Evidence: PCS. Frequency: 6/8. (PMID:34587386)
- Developmental regression (HP:0002376): Loss of developmental skills, as manifested by loss of developmental milestones. Evidence: PCS. Frequency: 1/10. (PMID:34587386)
- Poor appetite (HP:0004396): A reduced desire to eat. Evidence: PCS. Frequency: 3/9. (PMID:34587386)
- Delayed early-childhood social milestone development (HP:0012434): A failure to meet one or more age-related milestones of social behavior. Evidence: PCS. Frequency: 2/10. (PMID:34587386)
- Sparse scalp hair (HP:0002209): Decreased number of hairs per unit area of skin of the scalp. Evidence: PCS. Frequency: 8/8. (PMID:34587386)
- High forehead (HP:0000348): An abnormally increased height of the forehead. Evidence: PCS. Frequency: 3/8. (PMID:34587386)
- Broad distal phalanx of finger (HP:0009836): Abnormally wide (broad) distal phalanx of finger. Evidence: PCS. Frequency: 4/9. (PMID:34587386)
- Micrognathia (HP:0000347): Developmental hypoplasia of the mandible. Evidence: PCS. Frequency: 6/9. (PMID:34587386)
- Renal agenesis (HP:0000104): Agenesis, that is, failure of the kidney to develop during embryogenesis and development. Evidence: PCS. Frequency: 1/9. (PMID:34587386)
These phenotypes are associated with the disease Zaki syndrome (OMIM:619648).