Phenotypes associated with the disease Maternal uniparental disomy of chromosome 4 syndrome (ORPHA:96180):
- Rod-cone dystrophy (HP:0000510): An inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. Typical presentation is with nyctalopia (due to rod dysfunction) followed by loss of mid-peripheral field of vision, which gradually extends and leaves many patients with a small central island of vision due to the preservation of macular cones. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:96180)
- Pigmentary retinopathy (HP:0000580): An abnormality of the retina characterized by pigment deposition. It is typically associated with migration and proliferation of macrophages or retinal pigment epithelial cells into the retina; melanin from these cells causes the pigmentary changes. Pigmentary retinopathy is a common final pathway of many retinal conditions and is often associated with visual loss. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:96180)
- Nyctalopia (HP:0000662): Inability to see well at night or in poor light. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:96180)
- Abnormality of the nervous system (HP:0000707): An abnormality of the nervous system. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:96180)
- Depression (HP:0000716): Frequently experiencing feelings of being down, miserable, and/or hopeless; struggling to recover from these moods; having a pessimistic outlook on the future; feeling a pervasive sense of shame; having a low self-worth; experiencing thoughts of suicide and engaging in suicidal behavior. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:96180)
- 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: Frequent (HP:0040282). (ORPHA:96180)
- Visual field defect (HP:0001123). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:96180)
- 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: Frequent (HP:0040282). (ORPHA:96180)
- Ataxia (HP:0001251): Ataxia refers to impaired coordination of voluntary muscle movement. Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:96180)
- Dysmetria (HP:0001310): A type of ataxia characterized by the inability to carry out movements with the correct range and motion across the plane of more than one joint related to incorrect estimation of the distances required for targeted movements. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:96180)
- Abnormal erythrocyte morphology (HP:0001877): Any structural abnormality of erythrocytes (red-blood cells). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:96180)
- Acanthocytosis (HP:0001927): Acanthocytosis is a type of poikilocytosis characterized by the presence of spikes on the cell surface. The cells have an irregular shape resembling many-pointed stars. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:96180)
- Diarrhea (HP:0002014): Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:96180)
- Spastic gait (HP:0002064): Spasticity is manifested by increased stretch reflex which is intensified with movement velocity. This results in excessive and inappropriate muscle activation which can contribute to muscle hypertonia. Spastic gait is characterized by manifestations such as muscle hypertonia, stiff knee, and circumduction of the leg. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:96180)
- Impaired vibratory sensation (HP:0002495): A decrease in the ability to perceive vibration. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to bony prominences such as the malleoli at the ankles or the metacarpal-phalangeal joints. There is a slow decay of vibration from the tuning fork. The degree of vibratory sense loss can be crudely estimated by counting the number of seconds that the examiner can perceive the vibration longer than the patient. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:96180)
- Hyporeflexia of lower limbs (HP:0002600): Reduced intensity of muscle tendon reflexes in the lower limbs. Reflexes are elicited by stretching the tendon of a muscle, e.g., by tapping. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:96180)
- Fat malabsorption (HP:0002630): Abnormality of the absorption of fat from the gastrointestinal tract. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:96180)
- Hypocholesterolemia (HP:0003146): An decreased concentration of cholesterol in the blood. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:96180)
- Elevated circulating creatine kinase activity (HP:0003236): The activity of creatine kinase in the blood circulation is above the upper limit of normal. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:96180)
- Decreased circulating LDL-C concentration (HP:0003563): The concentration of low-density lipoprotein cholesterol in the blood circulation is below the lower limit of normal. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:96180)
- Calf muscle pseudohypertrophy (HP:0003707): Enlargement of the muscles of the calf due to their replacement by connective tissue or fat. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:96180)
- Neck flexor weakness (HP:0003722): Weakness of the muscles involved in neck flexion (sternocleidomastoid, longus capitus, longus colli, and scalenus anterior). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:96180)
- 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: Frequent (HP:0040282). (ORPHA:96180)
- Decreased body weight (HP:0004325): Abnormally low body weight. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:96180)
- Malnutrition (HP:0004395): A deficiency in the intake of energy and nutrients. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:96180)
- Reduced circulating vitamin A concentration (HP:0004905): Concentration of vitamin A below the lower limit of normal in the blood circulation. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:96180)
- Limb-girdle muscular dystrophy (HP:0006785): Muscular dystrophy affecting the muscles of the limb girdle (the hips and shoulders). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:96180)
- Abetalipoproteinemia (HP:0008181): An absence of low-density lipoprotein cholesterol in the blood. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:96180)
- Postnatal growth retardation (HP:0008897): Slow or limited growth after birth. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:96180)
- Impaired proprioception (HP:0010831): A loss or impairment of the sensation of the relative position of parts of the body and joint position. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:96180)
- Chaddock reflex (HP:0010875): A diagnostic reflex elicited by stimulation of the skin over the surface of the lateral malleolus of the foot. The Chaddock refelx is present if there is extension of one or more or all of the toes with or without fanning of them when the external inframalleolar skin is stimulated. The Chaddock sign, similar to the Babinski sign, is taken to be an indication of disease of the spinocortical (pyramidal) tract. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:96180)
- Decreased circulating vitamin K concentration (HP:0011892): The concentration of vitamin K in the blood circulation is below the lower limit of normal. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:96180)
- Hypofibrinogenemia (HP:0011900): Decreased concentration of fibrinogen in the blood. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:96180)
- Decreased circulating vitamin E concentration (HP:0100513): A reduced concentration of vitamin E in the blood circulation. Vitamin E is a lipophilic vitamin that is also known as alpha-tocopherol. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:96180)
- Neurogenic bladder (HP:0000011): A type of bladder dysfunction caused by neurologic damage. Neurogenic bladder can be flaccid or spastic. Common manifestatios of neurogenic bladder are overflow incontinence, frequency, urgency, urge incontinence, and retention. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:96180)
- Sensorineural hearing impairment (HP:0000407): A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:96180)
- Optic atrophy (HP:0000648): 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: TAS. Frequency: Very rare (HP:0040284). (ORPHA:96180)
- Diabetes insipidus (HP:0000873): A state of excessive water intake and hypotonic (dilute) polyuria. Diabetes insipidus may be due to failure of vasopressin (AVP) release (central or neurogenic diabetes insipidus) or to a failure of the kidney to respond to AVP (nephrogenic diabetes insipidus). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:96180)
- Type I diabetes mellitus (HP:0100651): A chronic condition in which the pancreas produces little or no insulin. Type I diabetes mellitus is manifested by the sudden onset of severe hyperglycemia with rapid progression to diabetic ketoacidosis unless treated with insulin. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:96180)