Phenotypes associated with the disease congenital disorder of deglycosylation 1 (OMIM:615273):
- Decreased body weight (HP:0004325): Abnormally low body weight. Evidence: PCS. (PMID:27388694)
- Corneal opacity (HP:0007957): A reduction of corneal clarity. Evidence: PCS. Frequency: 2/2. (PMID:25220016)
- Action tremor (HP:0002345): A tremor present when the limbs are active, either when outstretched in a certain position or throughout a voluntary movement. Evidence: PCS. (PMID:27388694)
- 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: PCS. Frequency: 5/10. (PMID:25220016;PMID:31957011;PMID:27388694)
- Short foot (HP:0001773): A measured foot length that is more than 2 SD below the mean for a newborn of 27 - 41 weeks gestation, or foot that is less than the 3rd centile for individuals from birth to 16 years of age (objective). Alternatively, a foot that appears disproportionately short (subjective). Evidence: PCS. Frequency: 13/13. (PMID:27388694;PMID:22581936)
- Delayed CNS myelination (HP:0002188): Delayed myelination in the central nervous system. Evidence: PCS. Frequency: 1/1. (PMID:22581936)
- Sunken cheeks (HP:0009938): Lack or loss of the soft tissues between the zygomata and mandible. Evidence: PCS. (PMID:27388694)
- High myoinositol in brain by MRS (HP:0025460): An elevated level of myoinositol in the brain identified by magnetic resonance spectroscopy (MRS). Evidence: PCS. Frequency: 22/22. (PMID:27388694)
- 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: PCS. Frequency: 12/21. (PMID:27388694;PMID:22581936;PMID:24651605)
- Elevated brain choline level by MRS (HP:0012706): An increase in the level of choline-containing compounds in the brain identified by magnetic resonance spectroscopy (MRS). Evidence: PCS. Frequency: 12/12. (PMID:27388694)
- Hypotonia (HP:0001252): 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: 13/13. (PMID:31957011;PMID:22581936;PMID:24651605)
- Reduced brain N-acetyl aspartate level by MRS (HP:0012708): A decrease in the level of N-acetyl aspartate in the brain identified by magnetic resonance spectroscopy (MRS). Evidence: PCS. Frequency: 12/12. (PMID:27388694)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 12/12. (PMID:27388694)
- Myoclonic seizure (HP:0032794): A myoclonic seizure is a type of motor seizure characterized by sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus. Evidence: PCS. Frequency: 3/4. (PMID:31957011)
- Impaired oral bolus formation (HP:0031146): An abnormality of swallowing characterized by reduced tongue coordination to form bolus after chewing. Food material spreads over the oral cavity instead of being concentrated into a bolus that is easily swallowed. Evidence: PCS. Frequency: 10/11. (PMID:27388694)
- Decreased CSF/serum albumin ratio (HP:0030978): A reduction below normal limits of the ratio of the cerebrospinal fluid (CSF) albumin concentration to serum albumin concentration. Evidence: PCS. Frequency: 7/9. (PMID:27388694)
- Single transverse palmar crease (HP:0000954): The distal and proximal transverse palmar creases are merged into a single transverse palmar crease. Evidence: PCS. Frequency: 1/2. (PMID:25220016)
- Hypertelorism (HP:0000316): Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes). Evidence: PCS. Frequency: 1/2. (PMID:25220016)
- Restlessness (HP:0000711): A state of unease is characterized by diffuse motor activity or motion, which is subject to limited control, nonproductive, or disorganized behavior. Evidence: PCS. Frequency: 2/2. (PMID:25220016)
- Chondroitin sulfate excretion in urine (HP:0012070): An increased concentration of chondroitin sulfate (CHEBI:37397) in the urine. Evidence: PCS. Frequency: 1/1. (PMID:22581936)
- Decreased CSF albumin concentration (HP:0025458): CSF albumin level is below the lower limit of normal. Evidence: PCS. (PMID:27388694)
- 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: PCS. Frequency: 4/4. (PMID:31957011)
- Hyperalaninemia (HP:0003348): An increased concentration of alanine in the blood. Evidence: PCS. Frequency: 1/4. (PMID:31957011)
- Hyporeflexia (HP:0001265): Reduction of neurologic reflexes such as the knee-jerk reaction. Evidence: PCS. Frequency: 6/8. (PMID:24651605)
- Facial hypotonia (HP:0000297): Reduced muscle tone of a muscle that is innervated by the facial nerve (the seventh cranial nerve). Evidence: PCS. Frequency: 12/12. (PMID:27388694)
- Microcephaly (HP:0000252): Head circumference below 2 standard deviations below the mean for age and gender. Evidence: PCS. Frequency: 6/8. (PMID:24651605)
- Anhidrosis (HP:0000970): Inability to sweat. Evidence: PCS. Frequency: 1/2. (PMID:25220016)
- Decreased CSF 5-hydroxyindolacetic acid concentration (HP:0025455): 5-HIAA (5-hydroxyindolacetic acid) concentration in the cerebrospinal fluid (CSF) is below the lower limit of normal. Evidence: PCS. (PMID:27388694)
- Reduced brain glutamine level by MRS (HP:0030980): An decrease in the level of glutamine in the brain identified by magnetic resonance spectroscopy (MRS). Evidence: PCS. Frequency: 12/12. (PMID:27388694)
- Increased circulating lactate concentration (HP:0002151): Abnormally increased level of blood lactate (2-hydroxypropanoic acid). Lactate is produced from pyruvate by lactate dehydrogenase during normal metabolism. The terms lactate and lactic acid are often used interchangeably but lactate (the component measured in blood) is strictly a weak base whereas lactic acid is the corresponding acid. Lactic acidosis is often used clinically to describe elevated lactate but should be reserved for cases where there is a corresponding acidosis (pH below 7.35). Evidence: PCS. Frequency: 2/4. (PMID:31957011)
- 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: PCS. Frequency: 21/21. (PMID:27388694;PMID:22581936;PMID:24651605)
- Suck reflex (HP:0030906): A type of primitive reflex that is elicited by lightly touching or tapping on the lips with an object such as a tongue blade, reflex hammer, or the examiner's finger. At times the reflex is obtained merely by approaching the lips with an object. A positive suck reflex consists of sucking movements by the lips when they are stroked or touched. Evidence: PCS. Frequency: 10/11. (PMID:27388694)
- Chorea (HP:0002072): Chorea (Greek for 'dance') refers to widespread arrhythmic involuntary movements of a forcible, jerky and restless fashion. It is a random-appearing sequence of one or more discrete involuntary movements or movement fragments. Movements appear random because of variability in timing, duration or location. Each movement may have a distinct start and end. However, movements may be strung together and thus may appear to flow randomly from one muscle group to another. Chorea can involve the trunk, neck, face, tongue, and extremities. Evidence: PCS. (PMID:27388694)
- Midface retrusion (HP:0011800): Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle. Evidence: PCS. Frequency: 1/4. (PMID:27388694)
- Abnormality of movement (HP:0100022): An abnormality of movement with a neurological basis characterized by changes in coordination and speed of voluntary movements. Evidence: PCS. Frequency: 2/2. (PMID:25220016)
- Keratan sulfate excretion in urine (HP:0012069): An increased concentration of keratan sulfate in the urine. Evidence: PCS. Frequency: 1/1. (PMID:22581936)
- Impaired oropharyngeal swallow response (HP:0031162): Delay or absence of the swallow response, reflexes triggered by the contact the food bolus makes with the anterior faucial pillars. Evidence: IEA. Frequency: 11/11. (PMID:27388694)
- Autosomal recessive inheritance (HP:0000007): 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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:24651605)
- Athetosis (HP:0002305): A slow, continuous, involuntary writhing movement that prevents maintenance of a stable posture. Athetosis involves continuous smooth movements that appear random and are not composed of recognizable sub-movements or movement fragments. In contrast to chorea, in athetosis, the same regions of the body are repeatedly involved. Athetosis may worsen with attempts at movement of posture, but athetosis can also occur at rest. Evidence: IEA. (PMID:27388694)
- 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: PCS. Frequency: 1/4. (PMID:27388694)
- 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: PCS. (PMID:27388694)
- Myoclonus (HP:0001336): Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements. Evidence: PCS. Frequency: 1/4. (PMID:27388694)
- Alacrima (HP:0000522): Absence of tear secretion. Evidence: PCS. Frequency: 12/15. (PMID:31957011;PMID:22581936;PMID:24651605)
- Hyperkinetic movements (HP:0002487): Motor hyperactivity with excessive movement of muscles of the body as a whole. Evidence: PCS. Frequency: 1/2. (PMID:25220016)
- 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: PCS. (PMID:27388694)
- 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: PCS. (PMID:27388694)
- Corneal ulceration (HP:0012804): Disruption of the epithelial layer of the cornea with involvement of the underlying stroma. Evidence: PCS. Frequency: 1/4. (PMID:31957011)
- Polyneuropathy (HP:0001271): A generalized disorder of peripheral nerves. Evidence: PCS. Frequency: 14/14. (PMID:25220016;PMID:31957011)
- Hepatic fibrosis (HP:0001395): The presence of excessive fibrous connective tissue in the liver. Fibrosis is a reparative or reactive process. Evidence: PCS. Frequency: 1/4. (PMID:31957011)
- Hepatomegaly (HP:0002240): Abnormally increased size of the liver. Evidence: PCS. Frequency: 1/2. (PMID:25220016)
- Delayed myelination (HP:0012448): Delayed myelination. Evidence: TAS. Frequency: 1/2. (PMID:24651605)
- Osteoporosis (HP:0000939): Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD). Evidence: PCS. Frequency: 1/2. (PMID:25220016)
- Pain (HP:0012531): An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage. Evidence: PCS. (PMID:25220016)
- Pain insensitivity (HP:0007021): Inability to perceive painful stimuli. Evidence: PCS. Frequency: 2/2. (PMID:25220016)
- Elevated circulating alpha-fetoprotein concentration (HP:0006254): The concentration of alpha-fetoprotein in the blood circulation is above the upper limit of normal. Evidence: PCS. Frequency: 3/5. (PMID:24651605)
- Hyperhidrosis (HP:0000975): Abnormal excessive perspiration (sweating) despite the lack of appropriate stimuli like hot and humid weather. Evidence: PCS. Frequency: 1/2. (PMID:25220016)
- Fever (HP:0001945): Body temperature elevated above the normal range. Evidence: PCS. (PMID:25220016)
- Intrinsic hand muscle atrophy (HP:0008954): Atrophy of the intrinsic muscle groups of the hand, comprising the thenar and hypothenar muscles; the interossei muscles; and the lumbrical muscles. Evidence: PCS. Frequency: 1/2. (PMID:25220016)
- Decreased sensory nerve conduction velocity (HP:0003448): Reduced speed of conduction of the action potential along a sensory nerve. Evidence: PCS. Frequency: 2/2. (PMID:25220016)
- Elevated circulating hepatic transaminase concentration (HP:0002910): Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage. Evidence: PCS. Frequency: 8/11. (PMID:31957011;PMID:24651605)
- Heparan sulfate excretion in urine (HP:0002159): An increased concentration of heparan sulfates in the urine. Evidence: PCS. Frequency: 1/1. (PMID:22581936)
- Narrow face (HP:0000275): Bizygomatic (upper face) and bigonial (lower face) width are both more than 2 standard deviations below the mean (objective); or, an apparent reduction in the width of the upper and lower face (subjective). Evidence: PCS. (PMID:27388694)
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: PCS. Frequency: 1/2. (PMID:25220016)
- Respiratory distress (HP:0002098): Respiratory distress is objectively observable as the physical or emotional consequences from the experience of dyspnea. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea. Evidence: PCS. Frequency: 1/2. (PMID:25220016)
- Open mouth (HP:0000194): A facial appearance characterized by a permanently or nearly permanently opened mouth. Evidence: PCS. Frequency: 1/4. (PMID:27388694)
- Small forehead (HP:0000350): The presence of a forehead that is abnormally small. Evidence: PCS. Frequency: 1/4. (PMID:27388694)
- Gliosis (HP:0002171): Gliosis is the focal proliferation of glial cells in the central nervous system. Evidence: PCS. Frequency: 1/1. (PMID:22581936)
- Central sleep apnea (HP:0010536): Sleep apnea results from a temporary loss of the central drive to the muscles responsible for breathing. Evidence: PCS. Frequency: 1/11. (PMID:27388694)
- Dilation of Virchow-Robin spaces (HP:0012520): Increased dimensions of the Virchow-Robin spaces (also known as perivascular spaces), which surround the walls of vessels as they course from the subarachnoid space through the brain parenchyma. Perivascular spaces are commonly microscopic, and not visible on conventional neuroimaging. This term refers to an increase of size of these spaces such that they are visible on neuroimaging (usually magnetic resonance imaging). The dilatations are regular cavities that always contain a patent artery. Evidence: PCS. Frequency: 1/1. (PMID:22581936)
- Motor regression (HP:0033044): Loss of previously achieved motor skills, as manifested by loss of developmental motor milestones. Evidence: PCS. Frequency: 1/1. (PMID:22581936)
- Ptosis (HP:0000508): 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: 2/6. (PMID:25220016;PMID:27388694)
- Peripheral neuropathy (HP:0009830): Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course. Evidence: PCS. Frequency: 2/3. (PMID:22581936;PMID:24651605)
- Oral-pharyngeal dysphagia (HP:0200136). Evidence: PCS. Frequency: 2/2. (PMID:25220016)
- Pointed chin (HP:0000307): A marked tapering of the lower face to the chin. Evidence: PCS. Frequency: 1/4. (PMID:27388694)
- Small hand (HP:0200055): Disproportionately small hand. Evidence: PCS. Frequency: 4/5. (PMID:31957011;PMID:22581936)
- Recurrent respiratory infections (HP:0002205): An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections. Evidence: PCS. Frequency: 1/2. (PMID:25220016)
- Involuntary movements (HP:0004305): Involuntary contractions of muscle leading to involuntary movements of extremities, neck, trunk, or face. Evidence: PCS. Frequency: 6/7. (PMID:31957011;PMID:22581936;PMID:24651605)
- 3-Methylglutaconic aciduria (HP:0003535): An increased amount of 3-methylglutaconic acid in the urine. Evidence: PCS. Frequency: 2/4. (PMID:31957011)