Phenotypes associated with the disease neurodevelopmental disorder with or without anomalies of the brain, eye, or heart (OMIM:616975, an entry in Online Mendelian Inheritance in Man):
- 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: PCS. Frequency: 2/10. (PMID:27087320)
- Astigmatism (HP:0000483, a Human Phenotype Ontology term): A type of refraction error associated with abnormal curvatures on the anterior and/or posterior surface of the cornea. Evidence: PCS. Frequency: 1/1. (PMID:27087320)
- Delayed CNS myelination (HP:0002188, a Human Phenotype Ontology term): Delayed myelination in the central nervous system. Evidence: PCS. Frequency: 2/8. (PMID:27087320)
- 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: 1/10. (PMID:27087320)
- Renal hypoplasia (HP:0000089, a Human Phenotype Ontology term): Hypoplasia of the kidney. Evidence: PCS. Frequency: 1/1. (PMID:27087320)
- 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: 3/9. (PMID:27087320)
- Focal impaired awareness seizure (HP:0002384, a Human Phenotype Ontology term): Focal impaired awareness seizure (or focal seizure with impaired or lost awareness) is a type of focal-onset seizure characterized by some degree (which may be partial) of impairment of the person's awareness of themselves or their surroundings at any point during the seizure. Evidence: PCS. Frequency: 1/1. (PMID:27087320)
- 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: 2/10. (PMID:27087320)
- 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: 4/10. (PMID:27087320)
- 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: 1/1. (PMID:27087320)
- Gastroesophageal reflux (HP:0002020, a Human Phenotype Ontology term): A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter. Evidence: PCS. Frequency: 3/10. (PMID:27087320)
- Infantile onset (HP:0003593, a Human Phenotype Ontology term): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. (PMID:27087320)
- Cleft lip (HP:0410030, a Human Phenotype Ontology term): A gap in the lip or lips. Evidence: PCS. Frequency: 1/10. (PMID:27087320)
- Thin corpus callosum (HP:0033725, a Human Phenotype Ontology term): An abnormally thin corpus callous, due to atrophy, hypoplasia or agenesis. This term is intended to be used in situations where it is not known if thinning of the corpus callosum (for instance, as visualized by magnetic resonance tomography) is due to abnormal development (e.g. a leukodystrophy) or atrophy following normal development (e.g. neurodegeneration). Evidence: PCS. Frequency: 6/8. (PMID:27087320)
- Hypoplasia of the pons (HP:0012110, a Human Phenotype Ontology term): Underdevelopment of the pons. Evidence: PCS. Frequency: 1/8. (PMID:27087320)
- Smooth philtrum (HP:0000319, a Human Phenotype Ontology term): 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: 1/10. (PMID:27087320)
- Lumbar hyperlordosis (HP:0002938, a Human Phenotype Ontology term): An abnormal accentuation of the inward curvature of the spine in the lumbar region. Evidence: PCS. Frequency: 1/10. (PMID:27087320)
- 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: 1/10. (PMID:27087320)
- 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: PCS. Frequency: 2/2. (PMID:27087320)
- Multiple cafe-au-lait spots (HP:0007565, a Human Phenotype Ontology term): The presence of six or more cafe-au-lait spots. Evidence: PCS. Frequency: 1/10. (PMID:27087320)
- Patent ductus arteriosus (HP:0001643, a Human Phenotype Ontology term): 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: 1/10. (PMID:27087320)
- Posteriorly rotated ears (HP:0000358, a Human Phenotype Ontology term): A type of abnormal location of the ears in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front). Evidence: PCS. Frequency: 1/10. (PMID:27087320)
- Simple ear (HP:0020206, a Human Phenotype Ontology term): The pinna has fewer folds and grooves than usual. Evidence: PCS. Frequency: 1/10. (PMID:27087320)
- Neonatal onset (HP:0003623, a Human Phenotype Ontology term): Onset of signs or symptoms of disease within the first 28 days of life. Evidence: PCS. Frequency: 2/8. (PMID:27087320)
- 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: 2/10. (PMID:27087320)
- Hip dysplasia (HP:0001385, a Human Phenotype Ontology term): The presence of developmental dysplasia of the hip. Evidence: PCS. Frequency: 1/10. (PMID:27087320)
- Hypoplastic anterior commissure (HP:0030303, a Human Phenotype Ontology term): Underdevelopment of the anterior commissure. Evidence: IEA. Frequency: 1/8. (PMID:27087320)
- Microcephaly (HP:0000252, a Human Phenotype Ontology term): Head circumference below 2 standard deviations below the mean for age and gender. Evidence: PCS. Frequency: 2/9. (PMID:27087320)
- Tall stature (HP:0000098, a Human Phenotype Ontology term): A height above that which is expected according to age and gender norms. Evidence: PCS. Frequency: 2/9. (PMID:27087320)
- 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: PCS. Frequency: 1/10. (PMID:27087320)
- Hypoplasia of the corpus callosum (HP:0002079, a Human Phenotype Ontology term): Underdevelopment of the corpus callosum. Evidence: PCS. Frequency: 6/8. (PMID:27087320)
- 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: 5/10. (PMID:27087320)
- Deeply set eye (HP:0000490, a Human Phenotype Ontology term): An eye that is more deeply recessed into the plane of the face than is typical. Evidence: PCS. Frequency: 3/20. (PMID:27087320)
- Dysarthria (HP:0001260, a Human Phenotype Ontology term): Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed. Evidence: PCS. Frequency: 1/10. (PMID:27087320)
- Poor suck (HP:0002033, a Human Phenotype Ontology term): An inadequate sucking reflex, resulting in the difficult of newborns to be breast-fed. Evidence: PCS. Frequency: 2/2. (PMID:27087320)
- 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: 10/10. (PMID:27087320)
- Optic nerve hypoplasia (HP:0000609, a Human Phenotype Ontology term): Underdevelopment of the optic nerve. Evidence: PCS. Frequency: 1/1. (PMID:27087320)
- 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: PCS. Frequency: 1/10. (PMID:27087320)
- Autistic behavior (HP:0000729, a Human Phenotype Ontology term): Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior. Evidence: PCS. Frequency: 10/10. (PMID:27087320)
- Annular pancreas (HP:0001734, a Human Phenotype Ontology term): A congenital anomaly in which the pancreas completely (or sometimes incompletely) encircles the second portion of duodenum and occasionally obstructs the more proximal duodenum. Evidence: PCS. Frequency: 1/10. (PMID:27087320)
- Hypotelorism (HP:0000601, a Human Phenotype Ontology term): Interpupillary distance less than 2 SD below the mean (alternatively, the appearance of an decreased interpupillary distance or closely spaced eyes). Evidence: PCS. Frequency: 1/10. (PMID:27087320)
- Microphthalmia (HP:0000568, a Human Phenotype Ontology term): A developmental anomaly characterized by abnormal smallness of one or both eyes. Evidence: PCS. Frequency: 2/10. (PMID:27087320)
- Optic atrophy (HP:0000648, a Human Phenotype Ontology term): Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy. Evidence: PCS. Frequency: 2/10. (PMID:27087320)
- 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: 2/10. (PMID:27087320)
- 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: 1/7. (PMID:27087320)
- 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:27087320)
- Low-set ears (HP:0000369, a Human Phenotype Ontology term): 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: 1/10. (PMID:27087320)
- Triangular face (HP:0000325, a Human Phenotype Ontology term): Facial contour, as viewed from the front, triangular in shape, with breadth at the temples and tapering to a narrow chin. Evidence: PCS. Frequency: 1/10. (PMID:27087320)
- Patent foramen ovale (HP:0001655, a Human Phenotype Ontology term): Failure of the foramen ovale to seal postnatally, leaving a potential conduit between the left and right cardiac atria. Evidence: PCS. Frequency: 1/10. (PMID:27087320)
- Broad alveolar ridges (HP:0000187, a Human Phenotype Ontology term). Evidence: PCS. Frequency: 1/10. (PMID:27087320)
- Congenital onset (HP:0003577, a Human Phenotype Ontology term): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 6/8. (PMID:27087320)
- Preauricular pit (HP:0004467, a Human Phenotype Ontology term): Small indentation anterior to the insertion of the ear. Evidence: PCS. Frequency: 1/10. (PMID:27087320)
- Small nail (HP:0001792, a Human Phenotype Ontology term): A nail that is diminished in length and width, i.e., underdeveloped nail. Evidence: PCS. Frequency: 1/10. (PMID:27087320)
- Upslanted palpebral fissure (HP:0000582, a Human Phenotype Ontology term): 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: 1/10. (PMID:27087320)
- 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: 1/10. (PMID:27087320)
- Furrowed tongue (HP:0000221, a Human Phenotype Ontology term): Accentuation of the grooves on the dorsal surface of the tongue. Evidence: PCS. Frequency: 1/10. (PMID:27087320)
- Blepharophimosis (HP:0000581, a Human Phenotype Ontology term): A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures. Evidence: PCS. Frequency: 1/10. (PMID:27087320)
- Anisometropia (HP:0012803, a Human Phenotype Ontology term): Inequality of refractive power of the two eyes. Evidence: PCS. Frequency: 1/1. (PMID:27087320)
- Prominent stem of antihelix (HP:0011240, a Human Phenotype Ontology term): Increased protrusion of the antihelical ridge, proximal to its bifurcation, relative to the prominence of the helix. Evidence: PCS. Frequency: 1/10. (PMID:27087320)
- Ventricular septal defect (HP:0001629, a Human Phenotype Ontology term): 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: 4/10. (PMID:27087320)
- 3-4 finger osseus syndactyly (HP:0006097, a Human Phenotype Ontology term): Fusion of the third (middle) and fourth (ring) finger, involving soft parts and including fusion of individual finger bones. Evidence: PCS. Frequency: 1/10. (PMID:27087320)
- Cerebral visual impairment (HP:0100704, a Human Phenotype Ontology term): A form of loss of vision caused by damage to the visual cortex rather than a defect in the eye. Evidence: PCS. Frequency: 1/1. (PMID:27087320)
- Bulbous nose (HP:0000414, a Human Phenotype Ontology term): Increased volume and globular shape of the anteroinferior aspect of the nose. Evidence: PCS. Frequency: 1/10. (PMID:27087320)
- Peters anomaly (HP:0000659, a Human Phenotype Ontology term): A form of anterior segment dysgenesis in which abnormal cleavage of the anterior chamber occurs. Peters anomaly is characterized by central, paracentral, or complete corneal opacity. Evidence: PCS. Frequency: 1/10. (PMID:27087320)
- Ventriculomegaly (HP:0002119, a Human Phenotype Ontology term): An increase in size of the ventricular system of the brain. Evidence: PCS. Frequency: 3/8. (PMID:27087320)
- High palate (HP:0000218, a Human Phenotype Ontology term): 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: 1/10. (PMID:27087320)
- 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: 2/9. (PMID:27087320)
- Cerebellar vermis hypoplasia (HP:0001320, a Human Phenotype Ontology term): Underdevelopment of the vermis of cerebellum. Evidence: PCS. Frequency: 4/8. (PMID:27087320)
- Polyhydramnios (HP:0001561, a Human Phenotype Ontology term): The presence of excess amniotic fluid in the uterus during pregnancy. Evidence: PCS. Frequency: 1/1. (PMID:27087320)
- Vesicoureteral reflux (HP:0000076, a Human Phenotype Ontology term): Abnormal (retrograde) movement of urine from the bladder into ureters or kidneys related to inadequacy of the valvular mechanism at the ureterovesicular junction or other causes. Evidence: PCS. Frequency: 3/10. (PMID:27087320)
- Scoliosis (HP:0002650, a Human Phenotype Ontology term): The presence of an abnormal lateral curvature of the spine. Evidence: PCS. Frequency: 1/10. (PMID:27087320)
- Anterior creases of earlobe (HP:0009908, a Human Phenotype Ontology term): Sharply demarcated, typically linear and approximately horizontal, indentations in the outer surface of the ear lobe. Evidence: PCS. Frequency: 1/10. (PMID:27087320)
- Spastic tetraparesis (HP:0001285, a Human Phenotype Ontology term): Spastic weakness affecting all four limbs. Evidence: PCS. Frequency: 1/10. (PMID:27087320)
- Inverted nipples (HP:0003186, a Human Phenotype Ontology term): The presence of nipples that instead of pointing outward are retracted inwards. Evidence: PCS. Frequency: 1/10. (PMID:27087320)
- Anomalous pulmonary venous return (HP:0010772, a Human Phenotype Ontology term): A developmental defect characterized by abnormal connection of one or more pulmonary veins to the superior or inferior vena cava, the right atrium, or the coronary sinus, resulting in a left-to-right shunt of oxygenated blood. Evidence: PCS. Frequency: 1/10. (PMID:27087320)
- Broad eyebrow (HP:0011229, a Human Phenotype Ontology term): Regional increase in the width (height) of the eyebrow. Evidence: PCS. Frequency: 2/10. (PMID:27087320)
- Sleep apnea (HP:0010535, a Human Phenotype Ontology term): An intermittent cessation of airflow at the mouth and nose during sleep is known as sleep apnea. Apneas that last at least 10 seconds are considered significant, but individuals with sleep apnea may experience apneas lasting from 20 seconds up to 2 or 3 minutes. Patients may have up to 15 events per hour of sleep. Evidence: PCS. Frequency: 1/10. (PMID:27087320)
- Broad thumb (HP:0011304, a Human Phenotype Ontology term): Increased thumb width without increased dorso-ventral dimension. Evidence: PCS. Frequency: 2/2. (PMID:27087320)
- Head-banging (HP:0012168, a Human Phenotype Ontology term): Habitual striking of one's own head against a surface such as a mattress or wall of a crib. Evidence: PCS. Frequency: 1/10. (PMID:27087320)
- Reduced cerebral white matter volume (HP:0034295, a Human Phenotype Ontology term): An abnormally low volume of the white matter of the brain. Evidence: PCS. Frequency: 6/8. (PMID:27087320)
- Renal cyst (HP:0000107, a Human Phenotype Ontology term): A fluid filled sac in the kidney. Evidence: PCS. Frequency: 1/10. (PMID:27087320)
- Widow's peak (HP:0000349, a Human Phenotype Ontology term): Frontal hairline with bilateral arcs to a low point in the midline of the forehead. Evidence: PCS. Frequency: 1/10. (PMID:27087320)
- Frontal bossing (HP:0002007, a Human Phenotype Ontology term): Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline. Evidence: PCS. Frequency: 2/10. (PMID:27087320)
- Intrauterine growth retardation (HP:0001511, a Human Phenotype Ontology term): An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age. Evidence: PCS. Frequency: 2/10. (PMID:27087320)
- 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: PCS. Frequency: 1/10. (PMID:27087320)
- 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: PCS. Frequency: 2/10. (PMID:27087320)
- Coloboma (HP:0000589, a Human Phenotype Ontology term): A developmental defect characterized by a cleft of some portion of the eye or ocular adnexa. Evidence: PCS. Frequency: 2/10. (PMID:27087320)
- 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: 1/7. (PMID:27087320)
- Duodenal atresia (HP:0002247, a Human Phenotype Ontology term): A developmental defect resulting in complete obliteration of the duodenal lumen, that is, an abnormal closure of the duodenum. Evidence: PCS. Frequency: 1/10. (PMID:27087320)
- Micrognathia (HP:0000347, a Human Phenotype Ontology term): Developmental hypoplasia of the mandible. Evidence: PCS. Frequency: 2/10. (PMID:27087320)