- Anal stenosis (HP:0002025, a Human Phenotype Ontology term): Abnormal narrowing of the anal opening. Evidence: IEA. (OMIM:305450)
- Epicanthus (HP:0000286, a Human Phenotype Ontology term): A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus. Evidence: IEA. (OMIM:305450)
- Anal atresia (HP:0002023, a Human Phenotype Ontology term): Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract. Evidence: PCS. Frequency: 4/5. (PMID:17334363)
- Prominent fingertip pads (HP:0001212, a Human Phenotype Ontology term): A soft tissue prominence of the ventral aspects of the fingertips. The term "persistent fetal fingertip pads" is often used as a synonym, but should better not be used because it implies knowledge of history of the patient which often does not exist. Evidence: IEA. (OMIM:305450)
- Strabismus (HP:0000486, a Human Phenotype Ontology term): A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error. Evidence: IEA. (OMIM:305450)
- Short stature (HP:0004322, a Human Phenotype Ontology term): 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: 2/9. Onset: Infantile onset (HP:0003593, a Human Phenotype Ontology term). (PMID:17334363)
- Pyloric stenosis (HP:0002021, a Human Phenotype Ontology term): Pyloric stenosis, also known as infantile hypertrophic pyloric stenosis, is an uncommon condition in infants characterized by abnormal thickening of the pylorus muscles in the stomach leading to gastric outlet obstruction. Clinically infants are well at birth. Then, at 3 to 6 weeks of age, the infants present with projectile vomiting, potentially leading to dehydration and weight loss. Evidence: IEA. (OMIM:305450)
- Seizure (HP:0001250, a Human Phenotype Ontology term): 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: 4/7. (PMID:17334363)
- Skin tags (HP:0010609, a Human Phenotype Ontology term): Cutaneous skin tags also known as acrochorda or fibroepithelial polyps are small benign tumors that may either form secondarily over time primarily in areas where the skin forms creases, such as the neck, armpit or groin or may also be present at birth, in which case they usually occur in the periauricular region. Evidence: IEA. (OMIM:305450)
- Hypotonia (HP:0001252, a Human Phenotype Ontology term): 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: 9/10. (PMID:17334363)
- Relative macrocephaly (HP:0004482, a Human Phenotype Ontology term): A relatively mild degree of macrocephaly in which the head circumference is not above two standard deviations from the mean, but appears dysproportionately large when other factors such as body stature are taken into account. Evidence: PCS. Frequency: 7/9. (PMID:17334363)
- Split hand (HP:0001171, a Human Phenotype Ontology term): 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: IEA. (OMIM:305450)
- Postnatal macrocephaly (HP:0005490, a Human Phenotype Ontology term): The postnatal development of an abnormally large skull (macrocephaly). Evidence: IEA. (OMIM:305450)
- Microtia, first degree (HP:0011266, a Human Phenotype Ontology term): Presence of all the normal ear components and the median longitudinal length more than two standard deviations below the mean. Evidence: PCS. Frequency: 7/7. (PMID:17334363)
- Broad hallux (HP:0010055, a Human Phenotype Ontology term): Visible increase in width of the hallux without an increase in the dorso-ventral dimension. Evidence: PCS. Frequency: 7/7. (PMID:17334363)
- Prominent forehead (HP:0011220, a Human Phenotype Ontology term): Forward prominence of the entire forehead, due to protrusion of the frontal bone. Evidence: PCS. Frequency: 9/10. (PMID:17334363)
- Lumbar hyperlordosis (HP:0002938, a Human Phenotype Ontology term): An abnormal accentuation of the inward curvature of the spine in the lumbar region. Evidence: IEA. (OMIM:305450)
- Hypertelorism (HP:0000316, a Human Phenotype Ontology term): Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes). Evidence: PCS. Frequency: 4/6. (PMID:17334363)
- Single transverse palmar crease (HP:0000954, a Human Phenotype Ontology term): The distal and proximal transverse palmar creases are merged into a single transverse palmar crease. Evidence: IEA. (OMIM:305450)
- Dental crowding (HP:0000678, a Human Phenotype Ontology term): Changes in alignment of teeth in the dental arch. Evidence: IEA. (OMIM:305450)
- Hydrocephalus (HP:0000238, a Human Phenotype Ontology term): 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: IEA. (OMIM:305450)
- Radial deviation of finger (HP:0009466, a Human Phenotype Ontology term): Bending or curvature of a finger toward the radial side (i.e., towards the thumb). The deviation is at the metacarpal-phalangeal joint, and this finding is distinct from clinodactyly. Evidence: IEA. (OMIM:305450)
- Constipation (HP:0002019, a Human Phenotype Ontology term): Infrequent or difficult evacuation of feces. Evidence: PCS. Frequency: 5/8. (PMID:17334363)
- Intellectual disability (HP:0001249, a Human Phenotype Ontology term): 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: 9/9. (PMID:17334363)
- Simple ear (HP:0020206, a Human Phenotype Ontology term): The pinna has fewer folds and grooves than usual. Evidence: PCS. Frequency: 7/7. (PMID:17334363)
- Cleft palate (HP:0000175, a Human Phenotype Ontology term): Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate). Evidence: IEA. (OMIM:305450)
- Downslanted palpebral fissures (HP:0000494, a Human Phenotype Ontology term): The palpebral fissure inclination is more than two standard deviations below the mean. Evidence: PCS. Frequency: 4/5. (PMID:17334363)
- Choanal atresia (HP:0000453, a Human Phenotype Ontology term): Absence or abnormal closure of the choana (the posterior nasal aperture). Most embryologists believe that posterior choanal atresia results from a failure of rupture between the 35th and 38th day of fetal life of the partition which separates the bucconasal or buccopharyngeal membranes. The resultant choanal atresia may be unilateral or bilateral, bony or membranous, complete or incomplete. In over 90 per cent of cases the obstruction is bony, while in the remainder it is membranous. The bony type of atresia is commonly located 1-2 mm. anterior to the posterior edge of the hard palate, and the osseous septum varies in thickness from 1 to 10 mm. In the membranous form of choanal atresia the obstruction usually occurs further posteriorly. In approximately one third of cases the atresia is bilateral. Evidence: IEA. (OMIM:305450)
- Global developmental delay (HP:0001263, a Human Phenotype Ontology term): 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. (OMIM:305450)
- Camptodactyly (HP:0012385, a Human Phenotype Ontology term): The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers or toes cannot be extended to 180 degrees by either active or passive extension. Evidence: TAS. (OMIM:305450)
- Sensorineural hearing impairment (HP:0000407, a Human Phenotype Ontology term): A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve. Evidence: IEA. (OMIM:305450)
- X-linked recessive inheritance (HP:0001419, a Human Phenotype Ontology term): A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele. Evidence: PCS. (PMID:17334363)
- Multiple joint contractures (HP:0002828, a Human Phenotype Ontology term). Evidence: IEA. (OMIM:305450)
- Prominent nose (HP:0000448, a Human Phenotype Ontology term): Distance between subnasale and pronasale more than two standard deviations above the mean, or alternatively, an apparently increased anterior protrusion of the nasal tip. Evidence: IEA. (OMIM:305450)
- Umbilical hernia (HP:0001537, a Human Phenotype Ontology term): Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect. Evidence: IEA. (OMIM:305450)
- Partial agenesis of the corpus callosum (HP:0001338, a Human Phenotype Ontology term): A partial failure of the development of the corpus callosum. Evidence: IEA. (OMIM:305450)
- Hypospadias (HP:0000047, a Human Phenotype Ontology term): Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum. Evidence: PCS. Frequency: 0/8. (PMID:17334363)
- Sacral dimple (HP:0000960, a Human Phenotype Ontology term): A cutaneous indentation resulting from tethering of the skin to underlying structures (bone) of the intergluteal cleft. Evidence: IEA. (OMIM:305450)
- Spasticity (HP:0001257, a Human Phenotype Ontology term): A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes. Evidence: PCS. Frequency: 2/4. (PMID:17334363)
- Cleft upper lip (HP:0000204, a Human Phenotype Ontology term): A gap or groove in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development. Evidence: IEA. (OMIM:305450)
- Delayed closure of the anterior fontanelle (HP:0001476, a Human Phenotype Ontology term): A delay in closure (ossification) of the anterior fontanelle, which generally undergoes closure around the 18th month of life. Evidence: IEA. (OMIM:305450)
- Long philtrum (HP:0000343, a Human Phenotype Ontology term): 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: IEA. (OMIM:305450)
- Narrow palate (HP:0000189, a Human Phenotype Ontology term): Width of the palate more than 2 SD below the mean (objective) or apparently decreased palatal width (subjective). Evidence: IEA. (OMIM:305450)
- Inguinal hernia (HP:0000023, a Human Phenotype Ontology term): Protrusion of the contents of the abdominal cavity through the inguinal canal. Evidence: PCS. Frequency: 3/10. (PMID:17334363)
- Wide anterior fontanel (HP:0000260, a Human Phenotype Ontology term): Enlargement of the anterior fontanelle with respect to age-dependent norms. Evidence: IEA. (OMIM:305450)
- Gray matter heterotopia (HP:0002282, a Human Phenotype Ontology term): 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: IEA. (OMIM:305450)
- Motor delay (HP:0001270, a Human Phenotype Ontology term): A type of Developmental delay characterized by a delay in acquiring motor skills. Evidence: IEA. (OMIM:305450)
- Sparse hair (HP:0008070, a Human Phenotype Ontology term): Reduced density of hairs. Evidence: IEA. (OMIM:305450)
- Facial wrinkling (HP:0009762, a Human Phenotype Ontology term): Excessive wrinkling of the skin of the face. Evidence: IEA. (OMIM:305450)
- Abnormal heart morphology (HP:0001627, a Human Phenotype Ontology term): Any structural anomaly of the heart. Evidence: IEA. (OMIM:305450)
- Clinodactyly (HP:0030084, a Human Phenotype Ontology term): An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe). Evidence: TAS. (OMIM:305450)
- Abnormally high-pitched voice (HP:0001620, a Human Phenotype Ontology term): A persistent (minutes to hours) abnormal increase in the pitch (frequency) of the voice for the context or social situation or significantly different from baseline of the individual. Evidence: IEA. (OMIM:305450)
- Thick lower lip vermilion (HP:0000179, a Human Phenotype Ontology term): Increased thickness of the lower lip, leading to a prominent appearance of the lower lip. The height of the vermilion of the lower lip in the midline is more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the lower lip in the frontal view (subjective). Evidence: IEA. (OMIM:305450)
- Frontal upsweep of hair (HP:0002236, a Human Phenotype Ontology term): Upward and/or sideward growth of anterior hair. Evidence: PCS. Frequency: 3/3. (PMID:17334363)
- Anteriorly placed anus (HP:0001545, a Human Phenotype Ontology term): Anterior malposition of the anus. Evidence: IEA. (OMIM:305450)
- Wide mouth (HP:0000154, a Human Phenotype Ontology term): Distance between the oral commissures more than 2 SD above the mean. Alternatively, an apparently increased width of the oral aperture (subjective). Evidence: IEA. (OMIM:305450)
- Fine hair (HP:0002213, a Human Phenotype Ontology term): Hair that is fine or thin to the touch. Evidence: IEA. (OMIM:305450)
- Short neck (HP:0000470, a Human Phenotype Ontology term): Diminished length of the neck. Evidence: IEA. (OMIM:305450)
- Broad thumb (HP:0011304, a Human Phenotype Ontology term): Increased thumb width without increased dorso-ventral dimension. Evidence: PCS. Frequency: 7/7. (PMID:17334363)
- Joint contracture of the hand (HP:0009473, a Human Phenotype Ontology term): Contractures of one ore more joints of the hands meaning chronic loss of joint motion due to structural changes in non-bony tissue. Evidence: IEA. (OMIM:305450)
- Neonatal hypotonia (HP:0001319, a Human Phenotype Ontology term): Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period. Evidence: IEA. (OMIM:305450)
- Frontal bossing (HP:0002007, a Human Phenotype Ontology term): Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline. Evidence: IEA. (OMIM:305450)
- Plagiocephaly (HP:0001357, a Human Phenotype Ontology term): Asymmetric head shape, which is usually a combination of unilateral occipital flattening with ipsilateral frontal prominence, leading to rhomboid cranial shape. Evidence: IEA. (OMIM:305450)
- Syndactyly (HP:0001159, a Human Phenotype Ontology term): Webbing or fusion of the fingers or 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 fingers or toes in a proximo-distal axis are referred to as "symphalangism". Evidence: IEA. (OMIM:305450)
- Attention deficit hyperactivity disorder (HP:0007018, a Human Phenotype Ontology term): Attention deficit hyperactivity disorder (ADHD) manifests at age 2-3 years or by first grade at the latest. The main symptoms are distractibility, impulsivity, hyperactivity, and often trouble organizing tasks and projects, difficulty going to sleep, and social problems from being aggressive, loud, or impatient. Evidence: IEA. (OMIM:305450)
- Cryptorchidism (HP:0000028, a Human Phenotype Ontology term): Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum. Evidence: PCS. Frequency: 4/8. (PMID:17334363)
- Intestinal malrotation (HP:0002566, a Human Phenotype Ontology term): An abnormality of the intestinal rotation and fixation that normally occurs during the development of the gut. This can lead to volvulus, or twisting of the intestine that causes obstruction and necrosis. Evidence: IEA. (OMIM:305450)
- Micrognathia (HP:0000347, a Human Phenotype Ontology term): Developmental hypoplasia of the mandible. Evidence: IEA. (OMIM:305450)
These phenotypes are associated with the disease FG syndrome 1 (OMIM:305450, an entry in Online Mendelian Inheritance in Man).