- Delayed CNS myelination (HP:0002188, a Human Phenotype Ontology term): Delayed myelination in the central nervous system. Evidence: PCS. Frequency: 2/3. (PMID:26656649)
- 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: PCS. Frequency: 2/3. (PMID:26656649)
- Tethered cord (HP:0002144, a Human Phenotype Ontology term): During normal embryological development, the spinal cord first occupies the entire length of the vertebral column but goes on to assume a position at the level of L1 due to differential growth of the conus medullaris and the vertebral column. The filum terminale is a slender, threadlike structure that remains after the normal regression of the distal embryonic spinal cord and attaches the spinal cord to the coccyx. A tethered cord results if there is a thickened rope-like filum terminale which anchors the cord at the level of L2 or below, potentially causing neurologic signs owing to abnormal tension on the spinal cord. Evidence: PCS. Frequency: 2/2. (PMID:26656649)
- Anteverted nares (HP:0000463, a Human Phenotype Ontology term): 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: 2/3. (PMID:26656649)
- 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: 2/3. (PMID:26656649)
- Syringomyelia (HP:0003396, a Human Phenotype Ontology term): Dilated, glial-lined cavity in spinal cord. This cavity does not communicate with the central canal, and usually is between the dorsal columns unilaterally or bilaterally along the side of the cord. Evidence: PCS. Frequency: 1/1. (PMID:26656649)
- Chordee (HP:0000041, a Human Phenotype Ontology term): A congenital anomaly of the penis characterized by ventral (i.e., downward), lateral, or ventrolateral curvature of the shaft and glans penis of more than 30 degrees. Evidence: PCS. Frequency: 1/3. (PMID:26656649)
- Generalized hypotonia (HP:0001290, a Human Phenotype Ontology term): Generalized muscular hypotonia (abnormally low muscle tone). Evidence: TAS. (OMIM:616728)
- Motor delay (HP:0001270, a Human Phenotype Ontology term): A type of Developmental delay characterized by a delay in acquiring motor skills. Evidence: TAS. (OMIM:616728)
- Cerebral white matter hypoplasia (HP:0012430, a Human Phenotype Ontology term): Underdevelopment of the cerebral white matter. Evidence: PCS. Frequency: 2/3. (PMID:26656649)
- 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: 3/3. (PMID:26656649)
- Oculomotor apraxia (HP:0000657, a Human Phenotype Ontology term): Ocular motor apraxia is a deficiency in voluntary, horizontal, lateral, fast eye movements (saccades) with retention of slow pursuit movements. The inability to follow objects visually is often compensated by head movements. There may be decreased smooth pursuit, and cancelation of the vestibulo-ocular reflex. Evidence: PCS. Frequency: 1/3. (PMID:26656649)
- Hypoplastic toenails (HP:0001800, a Human Phenotype Ontology term): Underdevelopment of the toenail. Evidence: PCS. Frequency: 2/3. (PMID:26656649)
- Thin upper lip vermilion (HP:0000219, a Human Phenotype Ontology term): 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: 3/3. (PMID:26656649)
- Downturned corners of mouth (HP:0002714, a Human Phenotype Ontology term): A morphological abnormality of the mouth in which the angle of the mouth is downturned. The oral commissures are positioned inferior to the midline labial fissure. Evidence: PCS. Frequency: 2/3. (PMID:26656649)
- Lower limb hypertonia (HP:0006895, a Human Phenotype Ontology term). Evidence: PCS. (PMID:26656649)
- Constipation (HP:0002019, a Human Phenotype Ontology term): Infrequent or difficult evacuation of feces. Evidence: PCS. Frequency: 3/3. (PMID:26656649)
- Macrocephaly (HP:0000256, a Human Phenotype Ontology term): 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: PCS. Frequency: 1/3. (PMID:26656649)
- Supernumerary nipple (HP:0002558, a Human Phenotype Ontology term): Presence of more than two nipples. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (OMIM:616728)
- Abnormal vertebral morphology (HP:0003468, a Human Phenotype Ontology term): An abnormality of one or more of the vertebrae. Evidence: PCS. (PMID:26656649)
- Exotropia (HP:0000577, a Human Phenotype Ontology term): A form of strabismus with one or both eyes deviated outward. Evidence: PCS. Frequency: 2/3. (PMID:26656649)
- Highly arched eyebrow (HP:0002553, a Human Phenotype Ontology term): Increased height of the central portion of the eyebrow, forming a crescent, semicircular, or inverted U shape. Evidence: TAS. (OMIM:616728)
- 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: 3/3. (PMID:26656649)
- Delayed speech and language development (HP:0000750, a Human Phenotype Ontology term): A degree of language development that is significantly below the norm for a child of a specified age. Evidence: PCS. Frequency: 3/3. (PMID:26656649)
- Wide nasal bridge (HP:0000431, a Human Phenotype Ontology term): Increased breadth of the nasal bridge (and with it, the nasal root). Evidence: PCS. Frequency: 3/3. (PMID:26656649)
- Hypoplasia of the corpus callosum (HP:0002079, a Human Phenotype Ontology term): Underdevelopment of the corpus callosum. Evidence: PCS. Frequency: 2/3. (PMID:26656649)
- Feeding difficulties (HP:0011968, a Human Phenotype Ontology term): Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it. Evidence: PCS. Frequency: 1/2. (PMID:26656649)
- Joint hypermobility (HP:0001382, a Human Phenotype Ontology term): The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes. Evidence: PCS. Frequency: 2/3. (PMID:26656649)
- Blue sclerae (HP:0000592, a Human Phenotype Ontology term): An abnormal bluish coloration of the sclera. Evidence: PCS. Frequency: 1/3. (PMID:26656649)
- 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: PCS. Frequency: 3/3. (PMID:26656649)
- Tapered finger (HP:0001182, a Human Phenotype Ontology term): The gradual reduction in girth of the finger from proximal to distal. Evidence: TAS. (OMIM:616728)
- Ptosis (HP:0000508, a Human Phenotype Ontology term): The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective). Evidence: PCS. Frequency: 1/3. (PMID:26656649)
- Clinodactyly of the 5th finger (HP:0004209, a Human Phenotype Ontology term): Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger). Evidence: PCS. Frequency: 2/3. (PMID:26656649)
- Synophrys (HP:0000664, a Human Phenotype Ontology term): Meeting of the medial eyebrows in the midline. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (OMIM:616728)
- Frontal bossing (HP:0002007, a Human Phenotype Ontology term): Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline. Evidence: TAS. (OMIM:616728)
- Short thumb (HP:0009778, a Human Phenotype Ontology term): Hypoplasia (congenital reduction in size) of the thumb. Evidence: TAS. (OMIM:616728)
- Autosomal dominant inheritance (HP:0000006, a Human Phenotype Ontology term): 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:26656649)
- Brachycephaly (HP:0000248, a Human Phenotype Ontology term): An abnormality of skull shape characterized by a decreased anterior-posterior diameter. That is, a cephalic index greater than 81%. Alternatively, an apparently shortened anteroposterior dimension (length) of the head compared to width. Evidence: PCS. Frequency: 2/3. (PMID:26656649)
- 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: 1/3. (PMID:26656649)
- Widely spaced teeth (HP:0000687, a Human Phenotype Ontology term): Increased spaces (diastemata) between most of the teeth in the same dental arch. Evidence: PCS. Frequency: 3/3. (PMID:26656649)
These phenotypes are associated with the disease palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome (OMIM:616728, an entry in Online Mendelian Inheritance in Man).