Phenotypes associated with the disease Distal deletion 12q syndrome (ORPHA:96149):
- 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:96149)
- Flat face (HP:0012368): Absence of concavity or convexity of the face when viewed in profile. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:96149)
- 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:96149)
- Aplasia/Hypoplasia of the middle phalanx of the 3rd finger (HP:0009437). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:96149)
- Unilateral cryptorchidism (HP:0012741): Absence of a testis from the scrotum on one side owing to failure of the testis or testes to descend through the inguinal canal to the scrotum. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:96149)
- Maturity-onset diabetes of the young (HP:0004904): The term Maturity-onset diabetes of the young (MODY) was initially used for patients diagnosed with fasting hyperglycemia that could be treated without insulin for more than two years, where the initial diagnosis was made at a young age (under 25 years). Thus, MODY combines characteristics of type 1 diabetes (young age at diagnosis) and type 2 diabetes (less insulin dependence than type 1 diabetes). The term MODY is now most often used to refer to a group of monogenic diseases with these characteristics. Here, the term is used to describe hyperglycemia diagnosed at a young age with no or minor insulin dependency, no evidence of insulin resistance, and lack of evidence of autoimmune destruction of the beta cells. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:96149)
- Polycystic kidney dysplasia (HP:0000113): The presence of multiple cysts in both kidneys. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:96149)
- Hypernasal speech (HP:0001611): A type of speech characterized by the presence of an abnormally increased nasal airflow during speech associated with structural abnormality of the nasal passages. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:96149)
- Abnormal facial shape (HP:0001999): An abnormal morphology (form) of the face or its components. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:96149)
- Obesity (HP:0001513): Accumulation of substantial excess body fat. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:96149)
- 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:96149)
- Prominent ear helix (HP:0009904): Abnormally prominent ear helix. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:96149)
- High, narrow palate (HP:0002705): The presence of a high and narrow palate. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:96149)
- Smooth philtrum (HP:0000319): Flat skin surface, with no ridge formation in the central region of the upper lip between the nasal base and upper vermilion border. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:96149)
- Small nail (HP:0001792): A nail that is diminished in length and width, i.e., underdeveloped nail. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:96149)
- Coarse facial features (HP:0000280): Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:96149)
- Microglossia (HP:0000171): Decreased length and width of the tongue. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:96149)
- Large hands (HP:0001176). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:96149)
- Long foot (HP:0001833): Increased back to front length of the foot. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:96149)
- Proportionate tall stature (HP:0011407). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:96149)
- Microcephaly (HP:0000252): Head circumference below 2 standard deviations below the mean for age and gender. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:96149)
- Generalized tonic seizure (HP:0010818): A generalized tonic seizure is a type of generalized motor seizure characterized by bilateral limb stiffening or elevation, often with neck stiffening without a subsequent clonic phase. The tonic activity can be a sustained abnormal posture, either in extension or flexion, sometimes accompanied by tremor of the extremities. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:96149)
- 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:96149)
- Diabetes mellitus (HP:0000819): A group of abnormalities characterized by hyperglycemia and glucose intolerance. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:96149)
- 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:96149)
- Hyperactivity (HP:0000752): Hyperactivity is a condition characterized by constant and unusually high levels of activity, even in situations where it is deemed inappropriate. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:96149)
- Impaired pain sensation (HP:0007328): Reduced ability to perceive painful stimuli. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:96149)
- Obsessive-compulsive trait (HP:0008770): The presence of one or more obsessive-compulsive personality traits. Obsessions refer to persistent intrusive thoughts, and compulsions to intrusive behaviors, which the affected person experiences as involuntary, senseless, or repugnant. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:96149)
- Self-mutilation (HP:0000742): Deliberate harm to one's body resulting in tissue damage, without a conscious intent to die. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:96149)
- Ectopic kidney (HP:0000086): A developmental defect in which a kidney is located in an abnormal anatomic position. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:96149)
- Pituitary adenoma (HP:0002893): A benign epithelial tumor derived from intrinsic cells of the adenohypophysis (anterior pituitary). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:96149)
- Micrognathia (HP:0000347): Developmental hypoplasia of the mandible. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:96149)
- Microtia (HP:0008551): Underdevelopment of the external ear. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:96149)
- Elbow flexion contracture (HP:0002987): An elbow contracture that limits the ability of the elbow joint to be extended (straightened), meaning that the elbow is fixed in an flexed (bent) position. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:96149)
- Kyphoscoliosis (HP:0002751): An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:96149)
- 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:96149)
- 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: Occasional (HP:0040283). (ORPHA:96149)
- Growth delay (HP:0001510): A deficiency or slowing down of growth pre- and postnatally. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:96149)
- Wide anterior fontanel (HP:0000260): Enlargement of the anterior fontanelle with respect to age-dependent norms. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:96149)
- 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:96149)
- 2-3 toe syndactyly (HP:0004691): Syndactyly with fusion of toes two and three. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:96149)
- 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:96149)
- 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:96149)
- Congenital hypertrophy of left ventricle (HP:0005129). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:96149)
- High hypermetropia (HP:0008499): A severe form of hypermetropia with over +5.00 diopters. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:96149)
- Late onset atopic dermatitis (HP:0007573): A form of atopic dermatitis with onset in adulthood characterized by atopic red face, chronic lichenified eczema on the trunk, subacute or psoriasiform dermatitis. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:96149)
- Bilateral conductive hearing impairment (HP:0008513): A bilateral type of conductive hearing impairment. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:96149)
- Failure to thrive in infancy (HP:0001531). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:96149)
- 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: Occasional (HP:0040283). (ORPHA:96149)
- Underdeveloped supraorbital ridges (HP:0009891): Flatness of the supraorbital portion of the frontal bones. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:96149)
- Long philtrum (HP:0000343): 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:96149)
- Median cleft upper lip (HP:0000161): A type of cleft lip presenting as a midline (median) gap in the upper lip. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:96149)
- Supernumerary tooth (HP:0011069): The presence of one or more teeth additional to the normal number. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:96149)
- Macrocephaly (HP:0000256): 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:96149)
- Downslanted palpebral fissures (HP:0000494): The palpebral fissure inclination is more than two standard deviations below the mean. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:96149)
- Pyloric stenosis (HP:0002021): 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:96149)
- Bulbous nose (HP:0000414): Increased volume and globular shape of the anteroinferior aspect of the nose. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:96149)
- 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:96149)
- Fine hair (HP:0002213): Hair that is fine or thin to the touch. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:96149)
- Clinodactyly of the 5th finger (HP:0004209): Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:96149)
- Pes valgus (HP:0008081): An outward (valgus) deviation of the calcaneus relative to the longitudinal axis of the lower leg at the talocalcaneal (subtalar) joint, such that the heel is everted. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:96149)
- Esophageal atresia (HP:0002032): A developmental defect resulting in complete obliteration of the lumen of the esophagus such that the esophagus ends in a blind pouch rather than connecting to the stomach. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:96149)
- Duodenal atresia (HP:0002247): A developmental defect resulting in complete obliteration of the duodenal lumen, that is, an abnormal closure of the duodenum. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:96149)
- Annular pancreas (HP:0001734): 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:96149)
- Biliary atresia (HP:0005912): Atresia of the biliary tree. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:96149)
- Frontal bossing (HP:0002007): Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:96149)
- Short middle phalanx of finger (HP:0005819): Short (hypoplastic) middle phalanx of finger, affecting one or more fingers. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:96149)
- Overlapping toe (HP:0001845): Describes a foot digit resting on the dorsal surface of an adjacent digit when the foot is at rest. Initially clawing may be dynamic and only noticeable on walking. Over time the plantar plate tears, subluxation occurs at the metatarsophalangeal joint (MTPJ), and the deformity becomes permanent. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:96149)
- Hydronephrosis (HP:0000126): Severe distention of the kidney with dilation of the renal pelvis and calices. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:96149)
- Vesicoureteral reflux (HP:0000076): 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:96149)
- Bronchodysplasia (HP:0006533). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:96149)
- Global developmental delay (HP:0001263): 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. Frequency: Occasional (HP:0040283). (ORPHA:96149)
- Generalized hypotonia (HP:0001290): Generalized muscular hypotonia (abnormally low muscle tone). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:96149)
- Large forehead (HP:0002003). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:96149)
- Short neck (HP:0000470): Diminished length of the neck. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:96149)
- Broad hallux (HP:0010055): Visible increase in width of the hallux without an increase in the dorso-ventral dimension. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:96149)