Phenotypes associated with the disease 9q33.3q34.11 microdeletion syndrome (ORPHA:495818):
- Thin vermilion border (HP:0000233): Height of the vermilion of the medial part of the lip more than 2 SD below the mean, or apparently reduced height of the vermilion of the lip in the frontal view. The vermilion is the red part of the lips (and confusingly, the vermilion itself is also often referred to as being equivalent the lips). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:495818)
- Full cheeks (HP:0000293): Increased prominence or roundness of soft tissues between zygomata and mandible. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:495818)
- Round face (HP:0000311): The facial appearance is more circular than usual as viewed from the front. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:495818)
- Bulbous nose (HP:0000414): Increased volume and globular shape of the anteroinferior aspect of the nose. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:495818)
- 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: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:495818)
- 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: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:495818)
- Motor delay (HP:0001270): A type of Developmental delay characterized by a delay in acquiring motor skills. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:495818)
- Large forehead (HP:0002003). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:495818)
- Dysphagia (HP:0002015): Difficulty in swallowing. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:495818)
- Nail dysplasia (HP:0002164): The presence of developmental dysplasia of the nail. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:495818)
- Patellar dislocation (HP:0002999): The kneecap normally is located within the groove termed trochlea on the distal femur and can slide up and down in it. Patellar dislocation occurs if the patella fully dislocates out of the groove. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:495818)
- Axial hypotonia (HP:0008936): Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:495818)
- Severe intellectual disability (HP:0010864): Severe intellectual disability (ID) is defined as a type of ID characterized by severely sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 20-34. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:495818)
- Broad chin (HP:0011822): Increased width of the midpoint of the mandible (mental protuberance) and overlying soft tissue. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:495818)
- Abnormal shape of the palpebral fissure (HP:0200005): The presence of an abnormal shape of the palpebral fissure. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:495818)
- Narrow mouth (HP:0000160): Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:495818)
- Microcephaly (HP:0000252): Head circumference below 2 standard deviations below the mean for age and gender. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:495818)
- Epistaxis (HP:0000421): Epistaxis, or nosebleed, refers to a hemorrhage localized in the nose. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:495818)
- Astigmatism (HP:0000483): A type of refraction error associated with abnormal curvatures on the anterior and/or posterior surface of the cornea. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:495818)
- Strabismus (HP:0000486): 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:495818)
- Telecanthus (HP:0000506): Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:495818)
- Atypical behavior (HP:0000708): Atypical behavior is an abnormality in a person's actions that can be controlled or modulated by the will of the individual. While abnormal behaviors can be difficult to control, they are distinct from other abnormal actions that cannot be affected by the individual's will. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:495818)
- Plagiocephaly (HP:0001357): Asymmetric head shape, which is usually a combination of unilateral occipital flattening with ipsilateral frontal prominence, leading to rhomboid cranial shape. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:495818)
- Talipes equinovarus (HP:0001762): Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:495818)
- Constipation (HP:0002019): Infrequent or difficult evacuation of feces. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:495818)
- Asthma (HP:0002099): Asthma is characterized by increased responsiveness of the tracheobronchial tree to multiple stimuli, leading to narrowing of the air passages with resultant dyspnea, cough, and wheezing. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:495818)
- Inability to walk (HP:0002540): Incapability to ambulate. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:495818)
- Highly arched eyebrow (HP:0002553): Increased height of the central portion of the eyebrow, forming a crescent, semicircular, or inverted U shape. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:495818)
- Patellar hypoplasia (HP:0003065): Underdevelopment of the patella. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:495818)
- Prominent metopic ridge (HP:0005487): Vertical bony ridge positioned in the midline of the forehead. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:495818)
- Fixed elbow flexion (HP:0006471). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:495818)
- Bilateral coxa valga (HP:0010665): The presence of bilateral coxa valga. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:495818)
- Cryptorchidism (HP:0000028): 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:495818)
- Small scrotum (HP:0000046): Apparently small scrotum for age. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:495818)
- Micropenis (HP:0000054): Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:495818)
- Abnormality of the kidney (HP:0000077): An abnormality of the kidney. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:495818)
- Brachycephaly (HP:0000248): 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:495818)
- 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:495818)
- Abnormal pinna morphology (HP:0000377): An abnormality of the pinna, which is also referred to as the auricle or external ear. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:495818)
- 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:495818)
- Webbed neck (HP:0000465): Pterygium colli is a congenital skin fold that runs along the sides of the neck down to the shoulders. It involves an ectopic fibrotic facial band superficial to the trapezius muscle. Excess hair-bearing skin is also present and extends down the cervical region well beyond the normal hairline. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:495818)
- Short neck (HP:0000470): Diminished length of the neck. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:495818)
- Single transverse palmar crease (HP:0000954): The distal and proximal transverse palmar creases are merged into a single transverse palmar crease. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:495818)
- Telangiectasia (HP:0001009): Telangiectasias refer to small dilated blood vessels located near the surface of the skin or mucous membranes, measuring between 0.5 and 1 millimeter in diameter. Telangiectasia are located especially on the tongue, lips, palate, fingers, face, conjunctiva, trunk, nail beds, and fingertips. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:495818)
- Spastic tetraparesis (HP:0001285): Spastic weakness affecting all four limbs. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:495818)
- 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:495818)
- Delayed CNS myelination (HP:0002188): Delayed myelination in the central nervous system. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:495818)
- Abnormal periventricular white matter morphology (HP:0002518): A structural abnormality of the myelinated axons (white matter) located near the cerebral ventricles. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:495818)
- Patellar aplasia (HP:0006443): Absence of the patella. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:495818)
- Cerebellar vermis atrophy (HP:0006855): Wasting (atrophy) of the vermis of cerebellum. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:495818)
- Abnormal hair pattern (HP:0010720): An abnormality of the distribution of hair growth. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:495818)
- Tented philtrum (HP:0011825): Prominence of a triangular soft tissue area of the philtrum with the apex to the columella. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:495818)
- Esophagitis (HP:0100633): Inflammation of the esophagus. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:495818)