name: Progressive pulmonary function impairment


Pulmonary lymphangiectasia

category: biolink:PhenotypicFeature biolink:DiseaseOrPhenotypicFeature biolink:BiologicalEntity biolink:ThingWithTaxon biolink:NamedThing

description: Abnormal dilatation of the pulmonary lymphatic vessels. Lymphatic fluid in the lung is derived from normal leakage of fluid out of the blood capillaries in the lung. In pulmonary lymphangiectasia, the pulmonary lymphatics are not properly connected and become dilated with fluid.


Chronic lung disease

description: According to the definitions of the American and British Thoracic Societies, including pulmonary functional tests, X-rays, and CT scans for items such as fibrosis, bronchiectasis, bullae, emphysema, nodular or lymphomatous abnormalities.


Abnormal pulmonary lymphatics

description: An abnormality of the pulmonary lymphatic chain.


Recurrent intrapulmonary hemorrhage

description: A recurrent hemorrhage occurring within the lung.


Recurrent bronchopulmonary infections

description: An increased susceptibility to bronchopulmonary infections as manifested by a history of recurrent bronchopulmonary infections.


Cardiorespiratory arrest

description: Cessation of breathing and/or cardiac function.


Extrapulmonary lobar sequestration

description: A type of pulmonary sequestration that is completely enclosed in its own pleural sac, occurring above, within, or below the diaphragm, and without communication with the tracheobronchial tree.


Pulmonary arteriovenous malformation

description: Pulmonary arteriovenous malformation, a condition most commonly associated with hereditary hemorrhagic telangiectasia, is an abnormal communication between the pulmonary artery and pulmonary vein without an intervening capillary communication. HRCT images usually show a coarse spidery appearance of the peripheral vascular markings in the lungs. More specific findings are obtained in the pulmonary angiogram where the normally invisible capillary phase is replaced by irregular vascular channels bridging the peripheral branches of pulmonary arteries and veins.


Diffuse hepatic steatosis

description: A diffuse form of hepatic steatosis.


name: Decreased mitochondrial complex III activity in liver tissue

description: Decreased activity of complex III of the mitochondrion in the liver.


Hepatic calcification

description: The presence of abnormal calcium deposition in the liver.


Biliary hyperplasia

description: Hyperplasia of the biliary tree, as manifested by increased size of bile ducts, dilated lumen, and histologically by an increased number of epithelial cells or hyperplasia.


name: Malformation of the hepatic ductal plate


Fluctuating hepatomegaly

description: Intermittently increased size of the liver.


Increased hepatocellular lipid droplets

description: An abnormal increase in the amount of intracellular lipid droplets in hepatocytes.


Increased hepatic glycogen content

description: An increase in the amount of glycogen stored in hepatocytes compared to normal.


name: Reduced number of intrahepatic bile ducts

description: The presence of reduced numbers of intrahepatic bile duct than normal.


Acute hepatic steatosis

description: An acute form of hepatic steatosis.


Hepatic arteriovenous malformation

description: A benign vascular lesion characterized by the presence of a complex network of communicating arterial and venous vascular structures in the liver.


name: Intrahepatic cholestasis with episodic jaundice


Macronodular cirrhosis

description: A type of cirrhosis characterized by the presence of large regenerative nodules.


Prolonged neonatal jaundice

description: Neonatal jaundice refers to a yellowing of the skin and other tissues of a newborn infant as a result of increased concentrations of bilirubin in the blood. Neonatal jaundice affects over half of all newborns to some extent in the first week of life. Prolonged neonatal jaundice is said to be present if the jaundice persists for longer than 14 days in term infants and 21 days in preterm infants.


Portal fibrosis

description: Fibroblast proliferation and fiber expansion from the portal areas to the lobule.


Depletion of mitochondrial DNA in liver

description: An abnormal reduction in the number of mitochondria in hepatocytes.


Reye syndrome-like episodes

description: Repeated occurrences of acute noninflammatory encephalopathy and fatty degenerative liver failure.


Straight clavicles

description: An abnormally straight configuration of the clavicle, a tubular bone which normally is doubly curved .


Premature sternal synostosis

description: Prematurely closed sternal sutures.


Absent glenoid fossa

description: Lack of development of the glenoid fossa, also known as the glenoid cavity, which is the articular surface of the scapula that articulates with the head of the humerus.


Scapulohumeral synostosis

description: Bony fusion between the humerus and scapula, leading to an impairment in mobility of the affected shoulder joint.


Diaphragmatic paralysis

description: The presence of a paralyzed diaphragm.


name: Irregular ossification at anterior rib ends


name: Progressive calcification of costochondral cartilage


Irregular chondrocostal junctions

description: Irregular surface of the normally relatively smooth border between the distal part of the ribs and the costal cartilages, which are bars of hyaline cartilage that connect the ribs to the sternum.


Precocious costochondral ossification

description: Early ossification of the costochondral junction, which is the joint between the ribs and costal cartilage in the front of the rib cage.


Midclavicular hypoplasia

description: Underdevelopment of the middle portion of the clavicle.


Wide intermamillary distance

description: A larger than usual distance between the left and right nipple.


name: Decreased number of sternal ossification centers

description: A less than normal number of sternal ossification centers. The sternum is initially formed from bilateral sternal plates that chondrify and begin to fuse with ribs at 10 weeks gestational age. Ossification starts in the manubrium and upper part of the sternal body at the 6th month, in the middle of the sternal body at the 7th month, in the lower part of the body during the 1st postnatal year and in the xiphoid process between years 5 and 18. The number of ossification centers vary up to six, and it is the ossification centers that are visualized by prenatal ultrasound. This term describes a reduction in the number of ossification centers compared with age-related norms.


Absent in utero rib ossification

description: Lack of formation and mineralization of the ribs in utero.


Anterior rib punctate calcifications

description: Deposition of calcium salts in point-like foci within the anterior portion of one or more ribs.


Costochondral joint sclerosis

description: Abnormal increase in density of the tissue at the costochondral junctions.


Multifocal breast carcinoma

description: Breast carcinoma that is bilateral or otherwise multifocal.


Absent sternal ossification

description: Lack of formation of mineralized bony tissue of the sternum.


Glenoid fossa hypoplasia

description: Underdevelopment of the glenoid fossa, which is the cavity in the lateral part of the scapula which articulates with the head of the humerus.


Osteosclerosis of ribs

description: Osteosclerosis of ribs (increased density related to increased bone mass).


Midclavicular aplasia

description: Developmental defect resulting in congenital absence of the middle portion of the clavicle.


Multiple rib fractures

description: More than one fracture of the ribs. Callus formation around multiple rib fractures can produce a row of multiple rounded expansions (beadlike prominences) giving the appearance of beaded ribs. Note that rachitic rosary would have one bead per rib (a swelling at the costochondral junction), while beaded ribs in the context of multiple rib fractures have multiple beads (fractures) along the same rib.


Thin clavicles

description: Abnormally reduced diameter (cross section) of the clavicles.


Costal cartilage calcification

description: Calcification of the costal cartilages, which are bars of hyaline cartilage found at the anterior ends of the ribs which serve to prolong the ribs forward and contribute to the elasticity of the walls of the thorax.


Costochondral pain

description: Chest wall pain in the area of the costochondral junctions.


name: Thickening of the lateral border of the scapula


Aplastic clavicle

description: Absence of the clavicles as a developmental defect.


Coat hanger sign of ribs

description: An abnormal morphology of the ribs consisting of shorted, abnormally curved ribs. On posteroanterior chest radiography, the ribs show a curvature resembling that of a coat hanger (clothes hanger).


Paroxysmal atrial tachycardia

description: A disorder characterized by an electrocardiographic finding of episodic atrial tachycardia with abrupt onset and termination.


Prolonged QRS complex

description: Increased time for the complex comprised of the Q wave, R wave, and S wave as measured by the electrocardiogram (EKG).. In adults, normal values are 0.06 - 0.10 sec.


Granulomatous coronary arteritis

description: Inflammation of the coronary arteries involving a granulomatous response, i.e., a non-specific inflammatory response involving granulomas, defined as a compact organized collection of mature mononuclear phagocytes including epithelioid and giant cells.


Premature ventricular contraction

description: Premature ventricular contractions (PVC) or ventricular extrasystoles are premature contractions of the heart that arise in response to an impulse in the ventricles rather than the normal impulse from the sinoatrial (SA) node.


Abnormal ventricular filling

description: An abnormality of filling of a ventricle with blood during diastole.


name: Ventricular preexcitation with multiple accessory pathways

description: A form of ventricular preexcitation due to the presence of multiple accessory pathways for cardiac conduction.


Aortic tortuosity

description: Abnormal tortuous (i.e., twisted) form of the aorta.


Paroxysmal tachycardia

description: An electrocardiographic finding of episodic tachycardia with abrupt onset and termination.


Myocardial calcification

description: Calcium deposition in the myocardium.


Pulmonic valve myxoma

description: A benign tumor of connective tissue containing mucous or gelatinous material (myxoma) localized in the pumonic valve.


name: Short chordae tendineae of the tricuspid valve

description: Abnormally short chordae tendineae of the tricuspid valve.


Myocardial steatosis

description: Steatosis in the myocardium.


name: Early progressive calcific cardiac valvular disease


name: Polymorphic and polytopic ventricular extrasystoles


Dilatation of the ventricular cavity

description: A localized outpouching of ventricular cavity that is generally associated with dyskinesia and paradoxical expansion during systole.


Premature atrial contractions

description: A type of cardiac arrhythmia with premature atrial contractions or beats caused by signals originating from ectopic atrial sites.


name: Abnormal atrioventricular valve morphology

description: An abnormality of an atrioventricular valve.


Abnormality of the hepatic vasculature

description: An abnormality of the hepatic vasculature.


Aplasia/Hypoplasia of the clavicles

description: Absence or underdevelopment of the clavicles (collar bones).


name: Aplasia/Hypoplasia involving bones of the thorax


name: Hereditary nonpolyposis colorectal carcinoma


Peripheral neuroepithelioma

description: A neuroblastoma arising from the peripheral nervous system.


Retroperitoneal paraganglioma

description: A paraganglioma (previously refered to as chemodectoma) located in the retroperitoneal space. Paragangliomas (also known as extra-adrenal pheochromocytomas) are rare tumors that arise from extra-adrenal chromaffin cells. Paragangliomas are characterized by secretions of excessive catecholamines, including epinephrine, norepinephrine and dopamine, which may lead to clinical symptoms, including episodic hypertension, tachycardia and diaphoresis. However, between 40 and 50% of paragangliomas are non-functional.


Papillary renal cell carcinoma type 2

description: A type of papillary renal cell carcinoma in which the papillae are covered by large eosinophilic cells with pleomorphic nuclei, prominent nucleoli, and nuclear pseudostratification.


Renal cortical adenoma

description: The presence of an adenoma in the cortex of the kidney.


Paraspinal neurofibroma

description: A neurofibroma (benign peripheral nerve sheath tumor) localized adjacent to the spine.


Malignant genitourinary tract tumor

description: The presence of a malignant neoplasm of the genital system.


Renal pelvic carcinoma

description: The presence of a carcinoma in the renal pelvis.


Ovarian papillary adenocarcinoma

description: The presence of a papillary adenocarcinoma of the ovary.


Benign genitourinary tract neoplasm

description: A non-malignant neoplasm of the genitourinary system.


Paranasal sinus hypoplasia

description: Underdevelopment of the paranasal sinuses.


Vivid hallucination

description: Perceptual experiences that are vivid, intense, and sensory in nature occur in the absence of corresponding stimuli from the external environment.


Cerebral hypomyelination

description: Reduced amount of myelin in the nervous system resulting from defective myelinogenesis in the white matter of the central nervous system.


name: White mater abnormalities in the posterior periventricular region


Focal hemiclonic seizure

description: A type of focal clonic seizure characterized by sustained rhythmic jerking rapidly involves one side of the body at seizure onset.


name: Aplasia/Hypoplasia of the cerebellar vermis

description: Absence or underdevelopment of the vermis of cerebellum.


Frontal polymicrogyria

description: A type of polymicrogyria with a gradient of severity (anterior more severe than posterior) extending from frontal poles posteriorly to precentral gyrus and inferiorly to frontal operculum.


name: Pallor of dorsal columns of the spinal cord

description: An abnormally pale appearance of the dorsal portion of the gray substance of the spinal cord. This finding can be observed by histological examination.


Severe muscular hypotonia

description: A severe degree of muscular hypotonia characterized by markedly reduced muscle tone.


name: Developmental stagnation at onset of seizures

description: A cessation of the development of a child in the areas of motor skills, speech and language, cognitive skills, and social and/or emotional skills, following the onset of epilepsy.


Absent patellar reflexes

description: Absence of the knee jerk reflex, which can normally be elicited by tapping the patellar tendon with a reflex hammer just below the patella.


Acute encephalopathy

description: A life-threatening disorder characterized by delirium, seizures, and neuromuscular changes.


Hypodysplasia of the corpus callosum

description: Developmental defect characterized by a small and malformed corpus callosum.


Hypoplasia of the ventral pons

description: Underdevelopment of the ventral portion of the pons.


name: Symmetric spinal nerve root neurofibromas

description: Multiple neurofibromas of the spinal nerve roots with a symmetric distribution.


Episodic generalized hypotonia

description: The occurrence of repeated episodes of generalized muscular hypotonia.


Cerebellar vermis atrophy

description: Wasting (atrophy) of the vermis of cerebellum.


Impaired distal proprioception

description: A loss or impairment of the sensation of the relative position of parts of the body and joint position occuring at distal joints.


Severe expressive language delay

description: A severe delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts.


name: Sensorimotor polyneuropathy affecting arms more than legs


Cerebral hypoplasia

description: Underdevelopment of the cerebrum.


name: Symmetrical progressive peripheral demyelination

description: A symmetric and progressive loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system.


Pontocerebellar atrophy

description: Atrophy affecting the pons and the cerebellum.


Diffuse peripheral demyelination

description: A diffuse loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system.


Impaired distal vibration sensation

description: A decrease in the ability to perceive vibration in the distal portions of the limbs.


Intellectual disability, progressive

description: The term progressive intellectual disability should be used if intelligence decreases/deteriorates over time.


Intellectual disability, borderline

description: Borderline intellectual disability is defined as an intelligence quotient (IQ) in the range of 70-85.


Frontotemporal cerebral atrophy

description: Atrophy (wasting, decrease in size of cells or tissue) affecting the frontotemporal cerebrum.


Hypnopompic hallucination

description: Brief hallucinations that occur as you wake up in the morning, in a state that falls somewhere between dreaming and being fully awake.


Congenital intracerebral calcification

description: The presence of calcium deposition within brain structures that is present already at the time of birth.


Frontal cortical atrophy

description: Atrophy of the frontal cortex.


name: Inability to walk by childhood/adolescence


name: Intraaxonal accumulation of curvilinear autofluorescent lipopigment storage material

description: Curvilinear intracellular accumulation of autofluorescent lipopigment storage material within axons.


name: Abnormal aggressive, impulsive or violent behavior


Axial muscle stiffness

description: Stiffness (a condition in which muscles cannot be moved quickly without accompanying pain or spasm) of the axial musculature.


Hypoglycemic encephalopathy

description: Brain damage related to a lowering of blood glucose below a critical level (around 30 mg/dl), which may lead to confusion, lethargy and delirium followed by seizures and coma. Prolonged hypoglycemia may lead to irreversible brain damage.


Frontoparietal cortical dysplasia

description: The presence of developmental dysplasia of the cortex of frontal lobe and the cortex of parietal lobe.


Transient psychotic episodes

description: Relatively short-lived periods of psychosis are characterized by the sudden onset of severe disturbances in perception, thinking, and behavior. These episodes typically last for a brief duration, generally ranging from a few days to a few weeks, and are often triggered by a significant stressor or traumatic event.


Impaired distal tactile sensation

description: A reduced sense of touch (tactile sensation) on the skin of the distal limbs. This is usually tested with a wisp of cotton or a fine camel's hair brush, by asking patients to say 'now' each time they feel the stimulus.


Impaired vibration sensation at ankles

description: A decrease in the ability to perceive vibration at the ankles. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to the malleoli of the ankles.


Abolished vibration sense

description: A complete loss of the ability to perceive vibration.


Recurrent meningitis

description: An increased susceptibility to meningitis as manifested by a medical history of recurrent episodes of meningitis.


Olivopontocerebellar hypoplasia

description: Hypoplasia of the cerebellum, pontine nuclei, and inferior olivary nucleus.


Abnormal auditory evoked potentials

description: An abnormality of the auditory evoked potentials, which are used to trace the signal generated by a sound, from the cochlear nerve, through the lateral lemniscus, to the medial geniculate nucleus, and to the cortex.


Choroid plexus calcification

description: The presence of calcium deposition in the choroid plexus.


Necrotizing encephalopathy

description: A type of encephalopathy (brain disease, damage, or malfunction accompanied by an altered mental state) that is characterized by evidence of necrosis of brain tissue.


Deficit in grammar

description: Deficit in grammar, including syntax and morphology.


Progressive leukoencephalopathy

description: Leukoencephalopathy that gets more severe with time.


Dysplastic corpus callosum

description: Dysplasia and dysgenesis of the corpus callosum are nonspecific descriptions that imply defective development of the corpus callosum. The term dysplasia is applied when the morphology of the corpus callosum is altered as a congenital trait. For instance, the corpus callosum may be hump-shaped, kinked, or a striped corpus callosum that lacks an anatomically distinct genu and splenium.


Myelin-dependent gliosis

description: A type of gliosis that occurs in the vicinity of injured neurons.


Basal ganglia gliosis

description: Focal proliferation of glial cells in the basal ganglia.


name: Loss of Purkinje cells in the cerebellar vermis


Motor axonal neuropathy

description: Progressive impairment of function of motor axons with muscle weakness, atrophy, and cramps. The deficits are length-dependent, meaning that muscles innervated by the longest nerves are affected first, so that for instance the arms are affected at a later age than the onset of deficits involving the lower leg.


Cavitation of the basal ganglia

description: The formation of small cavities in the tissue of the basal ganglia.


Poor fine motor coordination

description: An abnormality of the ability (skills) to perform a precise movement of small muscles with the intent to perform a specific act. Fine motor skills are required to mediate movements of the wrists, hands, fingers, feet, and toes.


Poor gross motor coordination

description: An abnormality of the ability (skills) to perform a precise movement of large muscles with the intent to perform a specific act. Gross motor skills are required to mediate movements of the arms, legs, and other large body parts.


Pain insensitivity

description: Inability to perceive painful stimuli.


Antenatal intracerebral hemorrhage

description: Cerebral hemorrhage that occurs before birth.


Poorly formed metencephalon

description: A morphological abnormality of the metencephalon.


Cerebral berry aneurysm

description: A small, sac-like aneurysm (outpouching) of a cerebral blood vessel.


Cerebellar dysplasia

description: Cerebellar dysplasia (abnormal growth or development) is defined by abnormal cerebellar foliation, white matter arborization, and gray-white matter junction. Cerebellar dysplasia is a neuroimaging finding that describes abnormalities of both the cerebellar cortex and white matter and is associated with variable neurodevelopmental outcome. Dysplasia may globally involve the cerebellum or affect only one cerebellar hemisphere. In addition, cerebellar dysplasia may be associated with cortical/subcortical cysts.


Chronic lymphocytic meningitis

description: Meningitis that persists for more than 4 weeks, and lymphocytes are present in the cerebrospinal fluid (CSF).


Atrophy of the dentate nucleus

description: Partial or complete wasting (loss) of dentate nucleus.


Large basal ganglia

description: Increased size of the basal ganglia.


name: Multifocal cerebral white matter abnormalities


Proximal hyperreflexia

description: Hyperactive stretch reflexes of muscles that move proximal joints (elbow, knee).


Generalized cerebral atrophy/hypoplasia

description: Generalized atrophy or hypoplasia of the cerebrum.


name: Aplasia of the inferior half of the cerebellar vermis


Progressive language deterioration

description: Progressive loss of previously present language abilities.


name: Disorganization of the anterior cerebellar vermis


Proximal limb muscle stiffness

description: Stiffness of the limbs (a condition in which muscles cannot be moved quickly without accompanying pain or spasm) occurring in the proximal limb muscle.


Distal peripheral sensory neuropathy

description: Peripheral sensory neuropathy affecting primarily distal sensation.


Inferior cerebellar vermis hypoplasia

description: Underdevelopment of the inferior portion of the vermis of cerebellum.


Thick corpus callosum

description: Increased vertical dimension of the corpus callosum. This feature can be visualized by sagittal sections on magnetic resonance tomography imaging of the brain.


Extrapyramidal muscular rigidity

description: Muscular rigidity (continuous contraction of muscles with constant resistance to passive movement).


name: Decreased amplitude of sensory action potentials

description: A reduction in the amplitude of sensory nerve action potential. This feature is measured by nerve conduction studies.


Dilated third ventricle

description: An increase in size of the third ventricle.


Facial-lingual fasciculations

description: Fasciculations affecting the tongue muscle and the musculature of the face.


name: Hypointensity of cerebral white matter on MRI

description: A darker than expected signal on magnetic resonance imaging emanating from the cerebral white matter.


name: Prolonged somatosensory evoked potentials


Infantile encephalopathy

description: Encephalopathy with onset in the infantile period.


Segmental peripheral demyelination

description: A loss of myelin from the internode regions along myelinated nerve fibers from segments of the peripheral nervous system.


Temporal cortical atrophy

description: Atrophy of the temporal cortex.


Subcortical dementia

description: A particular type of dementia characterized by a pattern of mental defects consisting prominently of forgetfulness, slowness of thought processes, and personality or mood change.


Proximal amyotrophy

description: Amyotrophy (muscular atrophy) affecting the proximal musculature.


Acute demyelinating polyneuropathy

description: Acute progressive areflexic weakness and mild sensory changes resulting from myelin breakdown and axonal degeneration.


Pallidal degeneration

description: Neurodegeneration involving the globus pallidus,a part of the basal ganglia that is involved in the regulation of voluntary movement.


Distal upper limb amyotrophy

description: Muscular atrophy of distal arm muscles.


name: Progressive extrapyramidal movement disorder


Asymmetric limb muscle stiffness

description: Stiffness of the limbs (a condition in which muscles cannot be moved quickly without accompanying pain or spasm) occurring in an asymmetric pattern.


name: Progressive extrapyramidal muscular rigidity

description: A progressive degree of muscular rigidity (continuous contraction of muscles with constant resistance to passive movement).


Fluctuations in consciousness

description: Changes in one's level of awareness and responsiveness to their environment.


name: Diffuse demyelination of the cerebral white matter

description: A diffuse loss of myelin from nerve fibers in the central nervous system.


Periventricular heterotopia

description: A form of gray matter heterotopia were the mislocalized gray matter is typically located periventricularly, also sometimes called subependymal heterotopia. Periventricular means beside the ventricles. This is by far the most common location for heterotopia. Subependymal heterotopia present in a wide array of variations. There can be a small single node or a large number of nodes, can exist on either or both sides of the brain at any point along the higher ventricle margins, can be small or large, single or multiple, and can form a small node or a large wavy or curved mass.


Paroxysmal dyskinesia

description: Episodic bouts of involuntary movements with dystonic, choreic, ballistic movements, or a combination thereof. There is no loss of consciousness during the attacks.


Absent smooth pursuit

description: A complete lack of the ability to track objects with the ocular smooth pursuit system, a class of rather slow eye movements that minimizes retinal target motion.


Interosseus muscle atrophy

description: Atrophy of the interosseus muscles (including the palmar interossei that lie on the anterior aspect of the metacarpals, the dorsal interosseus muscles of the hand, which lie between the intercarpals, the plantar interosseus muscles, which lie underneath the metatarsal bones, and the dorsal interossei, which are located between the metatarsal bones.


Peripheral hypomyelination

description: Reduced amount of myelin in the nervous system resulting from defective myelinogenesis in the peripheral nervous system.


name: Focal T2 hyperintense basal ganglia lesion

description: A lighter than expected T2 signal on magnetic resonance imaging (MRI) of the basal ganglia. This term refers to a localized hyperintensity affecting a particular region of the basal ganglia.


Loss of consciousness

description: Loss of alertness and orientation to place and time.


Focal lissencephaly

description: A congenital absence of the convolutions of the cerebral cortex and a poorly formed sylvian fissure that affects a particular part of the cortex.


Congenital facial diplegia

description: Facial diplegia (that is, bilateral facial palsy) with congenital onset.


name: Bilateral tonic-clonic seizure on awakening

description: Bilateral tonic-clonic seizure of either generalized or focal onset occurring on or soon after wakening (typically within 90 minutes of waking, regardless of the time of day).


Cerebral artery atherosclerosis

description: The formation of the formation of fibrofatty lesions in the wall of an artery located in the brain.


Photosensitive tonic-clonic seizure

description: Generalized-onset tonic-clonic seizures that are provoked by flashing or flickering light.


Irregular myelin loops

description: Presence of irregular redundant loops of focally folded myelin in a peripheral nerve.


Lower limb amyotrophy

description: Muscular atrophy affecting the lower limb.


Demyelinating motor neuropathy

description: Demyelination of peripheral motor nerves.


description: The presence of calcium deposition in the cerebral white matter surrounding the cerebral ventricles.


name: Decreased distal sensory nerve action potential

description: A reduction in the amplitude of sensory nerve action potential in distal nerve segments. This feature is measured by nerve conduction studies.


name: Spinocerebellar tract disease in lower limbs


Clusters of axonal regeneration

description: Groups of small caliber axons in peripheral nerve biospies indicative of axonal regeneration.


Progressive gait ataxia

description: A type of gait ataxia displaying progression of clinical severity.


name: Decreased number of small peripheral myelinated nerve fibers


Recurrent external ophthalmoplegia

description: Alternating and recurrent weakness of the external ocular muscles.


Abnormal pyramidal sign

description: Functional neurological abnormalities related to dysfunction of the pyramidal tract.


name: Severe demyelination of the white matter

description: A severe loss of myelin from nerve fibers in the central nervous system.


Symmetric peripheral demyelination

description: A symmetric loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system.


Absent mesencephalon

description: Agenesis of the midbrain.


Cerebral dysmyelination

description: Defective structure and function of myelin sheaths of the white matter of the brain.


Chronic axonal neuropathy

description: An abnormality characterized by chronic impairment of the normal functioning of the axons.


Atypical absence seizure

description: An atypical absence seizure is a type of generalized non-motor (absence) seizure characterized by interruption of ongoing activities and reduced responsiveness. In comparison to a typical absence seizure, changes in tone may be more pronounced, onset and/or cessation may be less abrupt, and the duration of the ictus and post-ictal recovery may be longer. Although not always available, an EEG often demonstrates slow (<3 Hz), irregular, generalized spike-wave activity.


Recurrent bacterial meningitis

description: An increased susceptibility to bacterial meningitis as manifested by a medical history of recurrent episodes of bacterial meningitis.


Developmental stagnation

description: A cessation of the development of a child in the areas of motor skills, speech and language, cognitive skills, and social and/or emotional skills.


name: Facial palsy secondary to cranial hyperostosis

description: Paralysis of the facial nerves on the basis of overgrowth of the cranial bones causing impingement upon the seventh cranial nerve.


Horizontal jerk nystagmus

description: Nystagmus consisting of horizontal to-and-fro eye movements, in which the movement in one direction is faster than in the other.


Limb fasciculations

description: Fasciculations affecting the musculature of the arms and legs.


Posterior fossa cyst

description: A discrete posterior fossa cerebrospinal fluid (CSF) collection that does not communicate directly with the fourth ventricle.


name: Chaotic rapid conjugate ocular movements


name: Dysfunction of lateral corticospinal tracts


Oromotor apraxia

description: Oral-motor apraxia is the inability to volitionally sequence oral movements of the speech structure for nonspeech tasks in the absence of neuromuscular deficits such as paralysis or muscle weakness. Oral-motor apraxia is diagnosed when, despite intact sensory motor function an individual is unable to use these effector systems under voluntary control.


CNS demyelination

description: A loss of myelin from nerve fibers in the central nervous system.


Deep white matter hypodensities

description: Multiple areas of darker than expected signal on magnetic resonance imaging emanating from the deep cerebral white matter.


name: Mixed demyelinating and axonal polyneuropathy


Impaired pain sensation

description: Reduced ability to perceive painful stimuli.


Focal hemifacial clonic seizure

description: Focal seizure characterized at onset by clonic movements affecting half of the face.


Hypoplasia of the frontal lobes

description: Underdevelopment of the frontal lobe of the cerebrum.


name: Bilateral tonic-clonic seizure with focal onset

description: A bilateral tonic-clonic seizure with focal onset is a focal-onset seizure which progresses into a bilateral tonic-clonic phase.


Recurrent encephalopathy

description: Recurrent episodes of brain dysfunction that may be triggered by factors such as metabolic disturbances or infections.


Hypermetric saccades

description: A saccade that overshoots the target with the dynamic saccade.


Lower limb muscle weakness

description: Weakness of the muscles of the legs.


name: Diffuse swelling of cerebral white matter


name: Abnormal morphology of the limbic system

description: Any structural anomaly of the limbic system, a set of midline structures surrounding the brainstem of the mammalian brain, originally described anatomically, e.g., hippocampal formation, amygdala, hypothalamus, cingulate cortex. Although the original designation was anatomical, the limbic system has come to be associated with the system in the brain subserving emotional functions. As such, it is very poorly defined and doesn't correspond closely to the anatomical meaning any longer. [BirnLex].


name: Atrophy/Degeneration involving the spinal cord


Upper limb postural tremor

description: A type of tremors that is triggered by holding an arm in a fixed position.


Focal-onset seizure

description: A focal-onset seizure is a type of seizure originating within networks limited to one hemisphere. They may be discretely localized or more widely distributed, and may originate in subcortical structures.


Abnormal pons morphology

description: A structural abnormality of the pons.


name: Aplasia/Hypoplasia of the pyramidal tract


name: Aplasia/Hypoplasia involving the corticospinal tracts


name: Atrophy/Degeneration affecting the brainstem


name: Atrophy/Degeneration affecting the central nervous system


name: Atrophy/Degeneration affecting the cerebrum

description: The presence of atrophy (wasting) of the cerebrum, also known as the telencephalon, the largest and most highly developed part of the human brain.


name: Aplasia/Hypoplasia of the corpus callosum

description: Absence or underdevelopment of the corpus callosum.


Corpus callosum atrophy

description: The presence of atrophy (wasting) of the corpus callosum.


name: Atrophy/Degeneration involving the corticospinal tracts


Motor neuron atrophy

description: Wasting involving the motor neuron.


name: Atrophy/Degeneration involving the caudate nucleus


Abnormal septum pellucidum morphology

description: An abnormality of the septum pellucidum, which is a thin, triangular, vertical membrane separating the lateral ventricles of the brain.


Abnormal choroid plexus morphology

description: An abnormality of the choroid plexus, which is the area in the cerebral ventricles in which cerebrospinal fluid is produced by modified ependymal cells.


name: Abnormality of somatosensory evoked potentials

description: An abnormality of somatosensory evoked potentials (SSEP), i.e., of the electrical signals of sensation going from the body to the brain in response to a defined stimulus. Recording electrodes are placed over the scalp, spine, and peripheral nerves proximal to the stimulation site. Clinical studies generally use electrical stimulation of peripheral nerves to elicit potentials. SSEP testing determines whether peripheral sensory nerves are able to transmit sensory information like pain, temperature, and touch to the brain. Abnormal SSEPs can result from dysfunction at the level of the peripheral nerve, plexus, spinal root, spinal cord, brain stem, thalamocortical projections, or primary somatosensory cortex.


Neoplasm of the genitourinary tract

description: A tumor (abnormal growth of tissue) of the genitourinary system.


Facial telangiectasia

description: Telangiectases (small dilated blood vessels) located near the surface of the skin of the face.


Aplasia cutis congenita of scalp

description: A developmental defect resulting in the congenital absence of skin on the scalp.


Hypoplastic sweat glands

description: Underdevelopment of the sweat glands.


description: A type of ichthyosiform erythroderma with postnatal onset.


Early cutaneous photosensitivity

description: Photosensitivity of the skin occurring early in life.


Axillary apocrine gland hypoplasia

description: Developmental hypoplasia of the apocrine sweat glands in the region of the axilla.


name: Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines


name: Excessive skin wrinkling on dorsum of hands and fingers


Nevus flammeus of the forehead

description: Naevus flammeus localized in the skin of the forehead.


name: Neonatal wrinkled skin of hands and feet


Spontaneous hematomas

description: Spontaneous development of hematomas (hematoma) or bruises without significant trauma.


Telangiectases of the cheeks

description: Telangiectases (small dilated blood vessels) located near the surface of the skin of the cheeks.


Telangiectasia of the oral mucosa

description: Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the oral mucosa.


Few cafe-au-lait spots

description: The presence of two to five cafe-au-lait macules.


Generalized edema

description: Generalized abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body.


Congenital ichthyosiform erythroderma

description: An ichthyosiform abnormality of the skin with congenital onset.


name: Intermittent generalized erythematous papular rash


Plaque-like facial hemangioma

description: Hemangioma is a benign tumor of the vascular endothelial cells. This term refers to facial hemangiomas that have a plaque-like morphology.


Multiple cutaneous leiomyomas

description: The presence of multiple leiomyomas of the skin.


name: Mottled pigmentation of the trunk and proximal extremities


Partial albinism

description: Absence of melanin pigment in various areas, which is found at birth and is permanent. The lesions are known as leucoderma and are often found on the face, trunk, or limbs.


Palmoplantar blistering

description: A type of blistering that affects the skin of the palms of the hands and the soles of the feet.


name: Increased groin pigmentation with raindrop depigmentation


Ipsilateral lack of facial sweating

description: Inability to sweat on the same side of the face that is affected by ptosis and miosis. This is a feature of Horner syndrome.


Flexural lichenification

description: Lichenification affecting primarily flexural areas of the skin.


Prominent veins on trunk

description: Prominent thoracic and abdominal veins.


Autoamputation of digits

description: The spontaneous detachment of a digit (finger or toe) from the body due to long standing pathology.


Bitot spots of the conjunctiva

description: Keratinization of the bulbar conjunctiva near the limbus (corneoscleral junction), resulting in a raised spot.


Sparse facial hair

description: Reduced number or density of facial hair.


Honeycomb palmoplantar hyperkeratosis

description: Abnormal thickening of the skin on the palms and soles with an honeycomb pattern.


Perifollicular hyperkeratosis

description: Increased amount of keratin (visible as white scales) surrounding hair follicles.


Palmoplantar cutis gyrata

description: Cutis gyrata of palms and soles.


Periarticular subcutaneous nodules

description: Subcutaneous nodules that are located in the vicinity of joints.


name: Axillary and groin hyperpigmentation and hypopigmentation


Abnormal dermatoglyphics

description: An abnormality of dermatoglyphs (fingerprints), which are present on fingers, palms, toes, and soles.


name: Decreased sweating due to autonomic dysfunction


Absence of subcutaneous fat

description: Lack of subcutaneous adipose tissue.


Diffuse telangiectasia

description: Telangiectases (small dilated blood vessels) with a diffuse localization.


name: Linear arrays of macular hyperkeratoses in flexural areas


name: Discrete 2 to 5-mm hyper- and hypopigmented macules


name: Focal friction-related palmoplantar hyperkeratosis

description: Hyperkeratosis affecting the palm of the hand and the sole of the foot in areas exposed to friction.


Recurrent staphylococcal infections

description: Increased susceptibility to staphylococcal infections, as manifested by recurrent episodes of staphylococcal infections.


Decreased number of sweat glands

description: The presence of fewer than normal sweat glands.


name: Streaks of hyperkeratosis along each finger onto the palm


Follicular hyperkeratosis

description: A skin condition characterized by excessive development of keratin in hair follicles, resulting in rough, cone-shaped, elevated papules resulting from closure of hair follicles with a white plug of sebum.


Punctate palmar hyperkeratosis

description: Tiny bumps of thickened skin (hyperkeratosis) on the palms of the hands.


name: Mottled pigmentation of photoexposed areas


Edema of the dorsum of hands

description: An abnormal accumulation of fluid beneath the skin on the back of the hands.


Redundant skin on fingers

description: Loose and sagging skin of the fingers.


Palmoplantar cutis laxa

description: Loose, wrinkled skin of hands and feet.


name: Yellow subcutaneous tissue covered by thin, scaly skin


Congenital posterior occipital alopecia

description: Loss of hair in the occipital region of the scalp with congenital onset.


name: Aplasia cutis congenita of midline scalp vertex


Severe photosensitivity

description: A severe degree of photosensitivity of the skin.


Frontal cutaneous lipoma

description: Presence of a cutaneous lipoma on the forehead.


name: Absent pigmentation of the ventral chest

description: Lack of skin pigmentation (coloring) of the anterior chest.


Congenital palmoplantar hyperkeratosis

description: Abnormal thickening of the skin on the palms and soles that is present at birth.


name: Abnormal subcutaneous fat tissue distribution


name: Congenital symmetrical palmoplantar keratosis


name: Confetti hypopigmentation pattern of lower leg skin


Plantar hyperkeratosis

description: Hyperkeratosis affecting the sole of the foot.


Generalized seborrheic dermatitis

description: Seborrheic dermatitis that is not localized to any one particular region.


Late onset atopic dermatitis

description: A form of atopic dermatitis with onset in adulthood characterized by atopic red face, chronic lichenified eczema on the trunk, subacute or psoriasiform dermatitis.


Palmar neurofibroma

description: A neurofibroma (benign peripheral nerve sheath tumor) localized in the palm of the hand.


name: Mediosternal, longitudinal streak of hypopigmentation


name: Skin fragility with non-scarring blistering


Reticular hyperpigmentation

description: Increased pigmentation of the skin with a netlike (reticular) pattern.


name: Aplasia cutis congenita on trunk or limbs

description: A developmental defect resulting in the congenital absence of skin on the trunk or the limbs.


name: Aplasia cutis congenita over posterior parietal area


name: Aplasia/Hypoplastia of the eccrine sweat glands

description: Absence or developmental hypoplasia of the eccrine sweat glands.


Painful subcutaneous lipomas

description: The presence of multiple subcutaneous lipoma that cause pain.


name: Bilateral single transverse palmar creases

description: The distal and proximal transverse palmar creases are merged into a single transverse palmar crease on both hands.


name: Generalized reticulate brown pigmentation


Hypoproteinemic edema

description: An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body because of decreased osmotic pressure of plasma (hypoproteinemia).


Nevus flammeus nuchae

description: Naevus flammeus localized in the skin of the neck. This is one of the most common birthmarks and present in approximately 25% of all newborns.


Subcutaneous calcification

description: Deposition of calcium salts in subcutaneous tissue (i.e., the the lowermost layer of the integument).


name: Pigmentation anomalies of sun-exposed skin


Mandibular osteomyelitis

description: Osteomyelitis of the lower jaw.


Bilateral microphthalmos

description: A developmental anomaly characterized by abnormal smallness of both eyes.


Dyschromatopsia

description: A form of colorblindness in which only two of the three fundamental colors can be distinguished due to a lack of one of the retinal cone pigments.


name: Peripheral tractional retinal detachment

description: Tractional retinal detachment at the periphery of the retina.


Absent lower eyelashes

description: Lack of eyelashes on the lower lid.


Congenital extraocular muscle anomaly

description: Congenital abnormality of the extraocular muscles.


Punctate cataract

description: A type of cataract with punctate opacities of the lens.


name: Congenital hypertrophy of retinal pigment epithelium

description: Sharply demarcated, congenital hyperpigmentation of the retinal pigment epithelium.


name: Eversion of lateral third of lower eyelids


Lacrimal gland aplasia

description: A congenital defect of development characterized by absence of the lacrimal gland.


Diffuse nuclear cataract

description: Opacity of the entire lens nucleus.


name: Abnormality of chorioretinal pigmentation


Reduced visual acuity

description: Diminished clarity of vision.


Curly eyelashes

description: Abnormally curly or curved eyelashes.


Peripheral cystoid retinal degeneration

description: Degenerative changes of the peripheral retina consisting of close-packed tiny cystic spaces at the outer plexiform/inner nuclear retinal level. The degeneration is very common in adult eyes and starts adjacent to the ora serrata and extends circumferentially and posteriorly.


name: Impaired pursuit initiation and maintenance


Abnormal vestibulo-ocular reflex

description: An abnormality of the vestibulo-ocular reflex (VOR). The VOR attempts to keep the image stable on the retina. Ideally passive or active head movements in one direction are compensated for by eye movements of equal magnitude.


Hypoplasia of the iris

description: Congenital underdevelopment of the iris.


Lacrimal duct stenosis

description: Narrowing of a tear duct (lacrimal duct).


Unilateral ptosis

description: A unilateral form of ptosis.


name: Undetectable light- and dark-adapted electroretinogram

description: Absence of the combined rod-and-cone response on electroretinogram.


Abnormal pupillary light reflex

description: An abnormality of the reflex that controls the diameter of the pupil, in response to the intensity of light that falls on the retina of the eye.


Hypoplasia of the lower eyelids

description: Underdevelopment of the lower eyelid.


Paroxysmal involuntary eye movements

description: Sudden-onset episode of abnormal, involuntary eye movements.


Chronic irritative conjunctivitis

description: A chronic irritative conjunctivitis, which commonly presents with general irritation and redness of the eyes, with a burning, dry, or foreign-body sensation of the eyes.


Saccular conjunctival dilatations

description: Presence of multiple dilatations (sac-like outpouchings) in the blood vessels of the conjunctiva.


Retinal pigment epithelial atrophy

description: Atrophy (loss or wasting) of the retinal pigment epithelium observed on fundoscopy or fundus imaging.


Opacification of the corneal epithelium

description: Lack of transparency of the corneal epithelium.


Iris hypopigmentation

description: An abnormal reduction in the amount of pigmentation of the iris.


Chorioretinal dysplasia

description: Abnormal development of the choroid and retina.


Lacrimal gland hypoplasia

description: Underdevelopment of the lacrimal gland.


Enlarged lacrimal glands

description: Abnormally big lacrimal glands.


Bone spicule pigmentation of the retina

description: Pigment migration into the retina in a bone-spicule configuration (resembling the nucleated cells within the lacuna of bone).


Hypoplasia of the fovea

description: Underdevelopment of the fovea centralis.


Macular dystrophy

description: Macular dystrophy is a nonspecific term for premature retinal cell aging and cell death, generally confied to the macula in which no clear extrinsic cause is evident.


Opacification of the corneal stroma

description: Reduced transparency of the stroma of cornea.


Pericentral scotoma

description: A scotoma (area of diminished vision within the visual field) that surrounds the central fixation point.


Deep anterior chamber

description: Increased depth of the anterior chamber, i.e., the anteroposterior distance between the cornea and the iris is increased.


Optic disc hypoplasia

description: Underdevelopment of the optic disc, that is of the optic nerve head, where ganglion cell axons exit the eye to form the optic nerve.


name: Central retinal vessel vascular tortuosity

description: The presence of an increased number of twists and turns of retinal blood vessels (arteries, arterioles, veins, venules).


Impaired smooth pursuit

description: An impairment of the ability to track objects with the ocular smooth pursuit system, a class of rather slow eye movements that minimizes retinal target motion.


Hypoplasia of the ciliary body

description: Underdevelopment of the ciliary body.


Chorioretinal scar

description: Fibrous connective tissue resulting from incomplete healing of a wound (i.e., a scar) located in the choroid and retina or the eye.


Posterior retinal neovascularization

description: A type of retinal neovascularization that affects the posterior pole of the retina.


Cortical pulverulent cataract

description: A type of cataract characterized by punctate, dust-like opacities within the cortical region of the lens.


Posterior subcapsular cataract

description: A type of cataract affecting the posterior pole of lens immediately adjacent to ('beneath') the Lens capsule.


name: Patchy atrophy of the retinal pigment epithelium

description: Wasting (atrophy) of the retinal pigment epithelium present in small, isolated areas.


Granular macular appearance

description: Mottled (spotted or blotched with different shades) pigmentary abnormality of the macula lutea.


Anterior cortical cataract

description: A cataract that affects the anterior part of the cortex of the lens.


Conjunctival whitish salt-like deposits

description: The presence of whitish deposits in the conjunctiva resembling salt. May be related to calcinosis.


Increased axial length of the globe

description: Abnormal largeness of the eye with an axial length > 2.5 standard deviations from population mean.


Horizontal pendular nystagmus

description: Nystagmus consisting of horizontal to-and-fro eye movements of equal velocity.


Herpetiform corneal ulceration

description: The presence of one or more dendritic corneal epithelial ulcers characterized by a treelike branching linear pattern with feathery edges and terminal bulbs. Herpetiform corneal ulcers can be identified by fluorescein staining.


Nongranulomatous uveitis

description: A form of uveitis that is not associated with the formation of granulomas.


Retinal pigment epithelial mottling

description: Mottling (spots or blotches with different shades) of the retinal pigment epithelium, i.e., localized or generalized fundal pigment granularity associated with processes at the level of the retinal pigment epithelium.


name: Abnormal distribution of retinal arterioles and venules


Horizontal supranuclear gaze palsy

description: A supranuclear gaze palsy is an inability to look in a horizontal direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal.


Central heterochromia

description: The presence of distinct colors in the central (pupillary) zone of the iris than in the mid-peripheral (ciliary) zone.


Presenile cataracts

description: Presenile cataract is a kind of cataract that occurs in early adulthood, that is, at an age that is younger than usual.


Lacrimal punctal atresia

description: Congenital absence or closure of the opening of the lacrimal punctum.


Adult-onset night blindness

description: Inability to see well at night or in poor light with onset in adulthood.


name: Nonprogressive restrictive external ophthalmoplegia

description: Nonprogressive restriction of movement of the external ocular muscles such that the eyes of affected individuals are partially or completely fixed in a strabismic position. Residual eye movements are significantly limited.


Progressive cataract

description: A kind of cataract that progresses with age.


Progressive ptosis

description: A progressive form of ptosis.


Long upper eyelashes

description: Increased length of the upper eyelashes.


name: Amyloid deposition in the vitreous humor

description: Deposition of hyaline extracellular material (amyloid) into the vitreous humor, which can manifest as vitreous opacities and reduced visual acuity.


Punctate opacification of the cornea

description: Punctate opacification (reduced transparency) of the corneal stroma.


Chorioretinal lacunae

description: Punched out lesions in the pigmented layer of the retina.


Congenital horizontal nystagmus

description: Horizontal nystagmus dating from or present at birth.


Retinal calcification

description: Deposition of calcium salts in the retina.


name: Restrictive partial external ophthalmoplegia

description: Fibrosis of only some of the external ocular muscles such that the eyes of affected individuals are partially or completely fixed in a strabismic position.


Almond-shaped palpebral fissure

description: A shape created by an acute downward arching of the upper eyelid and upward arching of the lower eyelid, toward the medial canthus, which gives the outline of the palpebral fissures the configuration of an almond. Thus, the maximum distance between the fissures is offset from, and medial to, the center point.


Congenital blindness

description: Blindness with onset at birth.


Slowed horizontal saccades

description: An abnormally slow velocity of horizontal saccadic eye movements.


Absent extraocular muscles

description: Congenital absence of the extraocular muscles.


name: Iridescent posterior subcapsular cataract

description: A type of posterior subcapsular cataract characterized by an iridescent color.


Hypoplasia of the lacrimal punctum

description: Underdevelopment of the lacrimal puncta.


Hypopigmentation of the fundus

description: Reduced pigmentation of the fundus, typically generalized. Fundoscopy may reveal a low level pigment in both RPE and choroid with clear visibility of choroidal vessels (pale/albinoid) or low pigment level in the RPE with deep pigment in choroid so that visible choroidal vessels are separated by deeply pigmented zones (tesselated/tigroid).


Retinal nonattachment

description: Failure of attachment of the retina during development.


Vitreous hemorrhage

description: Bleeding within the vitreous compartment of the eye.


Paravenous chorioretinal atrophy

description: Chorioretinal atrophy along the retinal veins.


Ocular hypertension

description: Intraocular pressure that is 2 standard deviations above the population mean.


Reticular retinal dystrophy

description: A type of of patterned retinal dystrophy that shows a reticular pattern of pigmentation.


Tractional retinal detachment

description: A type of retinal detachment arising due to a combination of contracting retinal membranes, abnormal vitreoretinal adhesions, and vitreous changes. It is usually seen in the context of diseases that induce a fibrovascular response, e.g. diabetes.


Lacrimal duct aplasia

description: A congenital defect resulting in absence of the lacrimal duct.


Abnormal flash visual evoked potentials

description: Anomaly of the visual evoked potentials elicited by a flash stimulus, generally a flash of light subtending an angle of at least 20 degrees of the visual field and presented in a dimly lit room.


Peripheral retinal detachment

description: Separation of the inner layers of the retina (neural retina) from the pigment epithelium occuring near the outer limit (periphery) of the retina.


Bilateral congenital mydriasis

description: Congenital abnormal dilation of the pupil on both sides.


Broad lateral eyebrow

description: Regional increase in the width (height) of the lateral eyebrow.


name: Juvenile posterior subcapsular lenticular opacities


Restrictive external ophthalmoplegia

description: Fibrosis of the external ocular muscles such that the eyes of affected individuals are partially or completely fixed in a strabismic position. Residual eye movements are significantly limited.


Reticular pigmentary degeneration

description: A type of retinal reticular pigmentation that forms a polygonal, netlike arrangement of hyperpigmented lines forming geometric patterns in the fundus.


Limited extraocular movements

description: Limited mobility of the eye within its socket.


Internal ophthalmoplegia

description: Paralysis of the iris and ciliary apparatus.


Congenital stapes ankylosis

description: A form of stapes ankylosis with congenital onset.


Unilateral narrow palpebral fissure

description: A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures on one side only.


Dense posterior cortical cataract

description: A type of posterior cortical cataract characterized by dense lenticular opacities.


Peripapillary chorioretinal atrophy

description: Chorioretinal atrophy concentrated around the optic papilla (i.e., the optic nerve head).


Corneal opacity

description: A reduction of corneal clarity.


name: Optic atrophy from cranial nerve compression


Pattern dystrophy of the retina

description: A spectrum of fundoscopic appearances characterized by the development of a variety of patterns of deposits predominantly in the macular area. The deposits are typically bilateral, relatively symmetrical, yellow/white and associated with changes at the level of the retinal pigment epithelium. With time, retinal atrophy may occur. A number of pattern dystrophy subtypes have been described including butterfly-shaped dystrophy, reticular dystrophy (net-like pattern) and fundus pulverulentus (granular, mottled pigmentation).


Retinal dysplasia

description: The presence of developmental dysplasia of the retina.


Hypometric horizontal saccades

description: Saccadic undershoot of horizontal saccadic eye movements, i.e., a horizontal saccadic eye movement that has less than the magnitude that would be required to gain fixation of the object.


Gaze-evoked horizontal nystagmus

description: Horizontal nystagmus made apparent by looking to the right or to the left.


Electronegative electroretinogram

description: A dark-adapted bright flash electroretinogram in which the b-wave that is of markedly lower amplitude than the associated a-wave (source: Holder GE., Inherited Chorioretinal Dystrophies: A Textbook and Atlas; 2014; p.17; ISBN 978-3-540-69466-3).


Retinal arteriolar occlusion

description: Blockage of retinal arteriole, generally associated with interruption of blood flow and oxygen delivery to affected regions of the retina.


Macular hypopigmentation

description: Decreased amount of pigmentation in the macula lutea.


Intraretinal exudate

description: Retinal exudate within the retinal tissue itself.


Hypoplastic iris stroma

description: Underdevelopment of the stroma of iris.


Malformed lacrimal duct

description: Congenital malformation of the lacrimal duct associated with incomplete development of the bony nasolacrimal canal or craniofacial anomalies.


Peripheral visual field loss

description: Loss of peripheral vision with retention of central vision, resulting in a constricted circular tunnel-like field of vision.


Decreased corneal reflex

description: An abnormally reduced response to stimulation of the cornea (by touch, foreign body, blowing air). The corneal reflex (also known as the blink reflex, normally results in an involuntary blinking of the eyelids.


Foveal hyperpigmentation

description: Increased amount of pigmentation in the fovea centralis.


Abnormality of macular pigmentation

description: Abnormality of macular or foveal pigmentation.


Peripheral opacification of the cornea

description: Reduced transparency of the peripheral region of the cornea.


name: Central fundal arteriolar microaneurysms

description: Microscopic aneurysms of the retinal arterioles near the central part of the fundus, visible as small round dark red dots on the retinal surface (not arising from visible vessels) that are by definition less than the diameter of the major optic veins as they cross the optic disc.


Superior lens subluxation

description: Partial dislocation of the lens in a superior direction.


Posterior Y-sutural cataract

description: A type of sutural cataract in which the opacity follows the posterior Y suture.


Abnormal iris pigmentation

description: Abnormal pigmentation of the iris.


Retinitis pigmentosa inversa

description: Retinitis pigmentosa inversa is form of retinal degeneration characterized by areas of retinal/chorioretinal degeneration with pigment migration in the macular area (in contrast to retinitis pigmentosa which, at early disease stages, predominantly affects the retinal periphery).


Absent anterior chamber of the eye

description: Absence of the anterior chamber of the eye owing to a developmental defect.


Aplastic/hypoplastic lacrimal glands

description: Absence or underdevelopment of the lacrimal gland.


Retinal arteriolar constriction

description: Decreased retinal arteriolar diameters, which may decrease blood flow and slow oxygen delivery to regions of the retina.


Abnormal retinal vascular morphology

description: A structural abnormality of retinal vasculature.


name: Abnormality of the vasculature of the eye


Abnormal line of Schwalbe morphology

description: An abnormality of the line of Schwalbe.


Abnormality of the extraocular muscles

description: An abnormality of an extraocular muscle.


Abnormality of the palpebral fissures

description: An anomaly of the space between the medial and lateral canthi of the two open eyelids.


Retinal fold

description: A wrinkle of retinal tissue projecting outward from the surface of the retina and visible as a line on fundoscopy.


Aplasia/Hypoplasia of the iris

description: Absence or underdevelopment of the iris.


name: Abnormal morphology of the conjunctival vasculature

description: Any abnormality of the blood vessels of the conjunctiva.


Aplasia/Hypoplasia affecting the uvea

description: Absence or underdevelopment of the uvea, the pigmented middle layer of the eye consisting of the iris and ciliary body together with the choroid.


Aplasia/Hypoplasia of the fovea

description: Congenital absence or underdevelopment of the fovea centralis.


name: Aplasia/Hypoplasia affecting the anterior segment of the eye

description: Absence or underdevelopment of the anterior segment of the eye.


Aplasia/Hypoplasia of the lens

description: Absence or underdevelopment of the lens.


Abnormal blistering of the skin

description: The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls.


Maternal virilization in pregnancy

description: Virilization (deepening of voice, facial hirsutism and scalp hair loss) with onset during pregnancy (usually towards the end of the first trimester) and regression several months post-partum.


name: Low maternal circulating estriol concentration

description: An abnormally low concentration of serum conjugated estriol as compared to normal values for gestational-age.


Osteoporotic tarsals

description: Reduction in bone mineral density affecting any or all of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones.


Absent fifth metatarsal

description: A developmental abnormality characterized by the absence of the fifth metatarsal bone.


Hallux varus

description: Medial deviation of the great toe owing to a deformity of the great toe joint causing the hallux to deviate medially.


Pes valgus

description: An outward deviation of the foot at the talocalcaneal or subtalar joint.


name: 2nd-5th toe middle phalangeal hypoplasia


Nonossified fifth metatarsal

description: The presence of a fifth metatarsal bone that has not undergone ossification at an age when ossification is usually visible.


name: Abnormality of the fifth metatarsal bone

description: An anomaly of the fifth metatarsal bone.


Widely spaced toes

description: An overall widening of the spaces between the digits.


Osteolysis of talus

description: Osteolysis affecting the talus.


Medially deviated second toe

description: Medial deviation of the second toe.


name: Expanded metatarsals with widened medullary cavities


Delayed tarsal ossification

description: Delayed maturation and calcification of any of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones.


name: Plantar crease between first and second toes

description: The presence of unusually deep creases (ridges/wrinkles) on the skin of sole of foot located between the first and second toe.


Advanced tarsal ossification

description: Precocious (accelerated) maturation and calcification of any of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones.


Plantar flexion contracture

description: A type of contracture in which the plantar flexion muscles are contracted.


name: Metatarsal diaphyseal endosteal sclerosis

description: Osteosclerosis of the endosteal surface of the diaphyses (shafts) of the metatarsal bones.


Clinodactyly of the 3rd toe

description: Bending or curvature of a third toe in the tibial direction (i.e., towards the big toe).


Flexion limitation of toes

description: Limitation of the ability to bend the toes.


Calcaneonavicular fusion

description: Synostosis of the calcaneus with the navicular bone.


Talipes calcaneovarus

description: A congenital deformity characterized by a dorsiflexed, inverted, and adducted foot, i.e., a combination of talipes calcaneus and talipes varus.


Bipartite calcaneus

description: A two-part calcaneus, a finding that probably results from delayed coalescence of two primary calcaneal centers of ossification.


Tarsal stippling

description: The presence of abnormal punctate (speckled, dot-like) calcifications in one or more tarsal bones.


Irregular tarsal ossification

description: Defective ossification in an irregular pattern of the seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones.


Equinus calcaneus

description: Abnormal plantar flexion of the calcaneus relative to the longitudinal axis of the tibia. This results in the angle between the long axis of the tibia and the long axis of the heel bone (calcaneus) being greater than 90 degrees.


Delayed calcaneal ossification

description: Delayed maturation and calcification of the calcaneus.


name: Impaired epinephrine-induced platelet aggregation

description: Abnormal response to epinephrine as manifested by reduced or lacking aggregation of platelets upon addition of epinephrine.


name: Elevated serum transaminases during infections

description: Elevations of the levels of SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) that occur during infections.


Prolonged prothrombin time

description: Increased time to coagulation in the prothrombin time test, which is a measure of the extrinsic pathway of coagulation. The results of the prothrombin time test are often expressed in terms of the International normalized ratio (INR), which is calculated as a ratio of the patient's prothrombin time (PT) to a control PT standardized for the potency of the thromboplastin reagent developed by the World Health Organization (WHO) using the formula: INR is equal to Patient PT divided by Control PT.


Periodic hypokalemic paresis

description: Episodes of muscle weakness associated with reduced levels of potassium in the blood.


Mucopolysacchariduria

description: Excessive amounts of mucopolysaccharide in the urine.


3-hydroxydicarboxylic aciduria

description: The concentration of 2-hydroxydicarboxylic acid in the urine, normalized for urine concentration, is above the upper limit of normal.


Absent leukocyte alkaline phosphatase

description: Alkaline phosphatase levels measured within leukocytes is below detectable levels.


Asymptomatic hyperammonemia

description: An increased concentration of ammonia in the blood not associated with symptoms such as encephalopathy.


Decreased circulating cortisol level

description: Abnormally reduced concentration of cortisol in the blood.


Decreased helper T cell proportion

description: Reduced proportion of helper T cells relative to the total number of T cells.


name: Decreased Arden ratio of electrooculogram

description: An abnormal reduction in the Arden ratio, which is the ratio between the light peak and the dark trough of the smoothed (physiologic) EOG record.


Precocious puberty in males

description: The onset of puberty before the age of 9 years in boys.


Adrenocortical cytomegaly

description: The presence of large polyhedral cells with eosinophilic granular cytoplasm and enlarged nuclei in the adrenal cortex.


name: Absence of secondary sex characteristics

description: No secondary sexual characteristics are present at puberty.


Thyroid dysgenesis

description: A congenital condition characterized by hypoplasia, absence, or ectopic position of the thyroid gland. It is manifested with congenital hypoparathyroidism.


Insulin insensitivity

description: Decreased sensitivity toward insulin.


Thyroid agenesis

description: The congenital absence of the thyroid gland.


Multiple pancreatic beta-cell adenomas

description: The presence of multiple pancreatic islet cell adenomas.


Congenital hypoparathyroidism

description: Deficiency of parathyroid hormone with congenital onset.


name: Precocious puberty with Sertoli cell tumor


name: Insulin-dependent but ketosis-resistant diabetes

description: Ketosis-resistant diabetes is a synonym for type II diabetes. This term thus refers to a form of type II diabetes in which patients are dependent on insulin.


Gonadotropin deficiency

description: A reduced ability to secrete gonadotropins, which are protein hormones secreted by gonadotrope cells of the anterior pituitary gland, including the hormones follitropin (FSH) and luteinizing hormone (LH).


Decreased serum estradiol

description: A reduction below normal concentration of estradiol in the circulation.


Adrenal gland dysgenesis

description: Abnormal development of the adrenal gland.


Adrenal hyperplasia

description: Enlargement of the adrenal gland.


Compensated hypothyroidism

description: Condition associated with a raised serum concentration of thyroid stimulating hormone (TSH) but a normal serum free thyroxine (FT4).


Androgen insufficiency

description: Insufficient amount of androgenic activity.


Pituitary resistance to thyroid hormone

description: A condition in which the pituitary gland is partially resistant to thyroid hormone, so that it continues to secrete thyroid-stimulating hormone (TSH) until the blood level of thyroid hormone rises higher than normal.


Thyroid lymphangiectasia

description: The presence of lymphangiectasis of the thyroid gland.


Macronodular adrenal hyperplasia

description: Adrenal hyperfunction associated with multiple bilateral adrenal nodules, usually more than one centimeter in diameter.


name: Elevated circulating follicle stimulating hormone level

description: An elevated concentration of follicle-stimulating hormone in the blood.


Decreased circulating progesterone

description: An reduced concentration of progesterone in the blood.


Adrenal medullary hypoplasia

description: Developmental hypoplasia of the adrenal medulla.


Euthyroid hyperthyroxinemia

description: Increased levels of thyroxine without evidence of clinical thyroid disease.


Thyroid hyperplasia

description: Hyperplasia of the thyroid gland.


Congenital goiter

description: An enlargement of the thyroid gland with congenital onset.


Adrenocorticotropin receptor defect

description: Adrenal insufficiency secondary to a defect in the ACTH receptor.


Pancreatic islet cell adenoma

description: The presence of an adenoma of the pancreas with origin in a pancreatic B cell.


name: Thyroid defect in oxidation and organification of iodide


Neutrophil inclusion bodies

description: The presence of intracellular inclusion bodies (aggregates of stainable substances, usually proteins) in neutrophils. Cytoplasmic neutrophil inclusions (oval, basophilic) are also known as Doehle bodies.


name: Increased red cell hemolysis by shear stress


Abnormal cartilage collagen

description: Abnormal morphology of collagen fibers in cartilage. In cartilage, collagen II, actually a collagen II:IX:XI heterofibril, is by far the most important type of collagen. A number of abnormalities may be appreciated by electron micrography or biochemical investigations, including sparse collagen fibers in the cartilage matrix.


Abnormal blood zinc concentration

description: An abnormality of zinc ion homeostasis.


Cerebellar cortical atrophy

description: Atrophy (wasting) of the cerebellar cortex.


Acute hyperammonemia

description: An increased concentration of ammonia in the blood with sudden onset.


Unconjugated hyperbilirubinemia

description: An increased amount of unconjugated (indirect) bilurubin in the blood.


Fasting hyperinsulinemia

description: An increased concentration of insulin in the blood in the fasting state, i.e., not as the response to food intake.


Partial complement factor H deficiency

description: A partial reduction in level of the complement component Factor H in circulation.


Long-chain dicarboxylic aciduria

description: An increase in the level of long-chain dicarboxylic acid in the urine.


Transient hyperphenylalaninemia

description: A condition of not having consistently high levels of phenylalanine in the blood but of experiencing temporary hyperphenylalaninemia following ingestion of large quantities of phenylalanine (for instance, following an oral loading test with phenylalanine).


Dermatan sulfate excretion in urine

description: An increased concentration of dermatan sulfate in the urine.


Olivary degeneration

description: Degeneration of the olivary bodies, prominent oval structures in the medulla oblongata.


Exercise-induced myoglobinuria

description: Presence of myoglobin in the urine following exercise.


name: Abnormal iron deposition in mitochondria


Medium chain dicarboxylic aciduria

description: An increase in the level of medium chain dicarboxylic acid in the urine.


name: Spinal cord posterior columns myelin loss


Decreased plasma free carnitine

description: A decreased concentration of free (unbound) carnitine in the blood.


Abnormal mitochondria in muscle tissue

description: An abnormality of the mitochondria in muscle tissue.


Elevated leukocyte alkaline phosphatase

description: Increased alkaline phosphatase measured within leukocytes.


name: Impaired collagen-induced platelet aggregation

description: Abnormal response to collagen or collagen-mimetics as manifested by reduced or lacking aggregation of platelets upon addition collagen or collagen-mimetics.


Abnormal mitochondrial morphology

description: Any structural anomaly of the mitochondria.


name: Abnormal light- and dark-adapted electroretinogram

description: An abnormality of the combined rod-and-cone response on electroretinogram.


Microscopic nephrocalcinosis

description: The presence of microscopic crystalline calcium precipitates in the form of oxalate and/or phosphate in the renal parenchyma.


Reduced von Willebrand factor activity

description: Decreased activity of von Willebrand factor. Von Willebrand factor mediates the adhesion of platelets to the collagen exposed on endothelial cell surfaces.


name: Partial functional complement factor D deficiency

description: A partial reduction in level of the complement component Factor D in circulation.


Diaminoaciduria

description: An increased urine level of any amino acid carrying two amino groups (Asparagine, glutamine and lysine, cystine, ornithine).


name: Elevated circulating branched chain amino acid concentration

description: Concentration of a branched chain amino acid in the blood above the upper limit of normal.


Hypoplasia of the iris dilator muscle

description: Underdevelopment of the dilatator pupillae.


name: Decreased activity of mitochondrial complex IV

description: A reduction in the activity of the mitochondrial respiratory chain complex IV, which is part of the electron transport chain in mitochondria.


Decreased circulating IgG2 level

description: A reduction in immunoglobulin levels of the IgG2 subclass in the blood circulation.


Impaired platelet adhesion

description: An abnormality of adhesion of thrombocytes. Normally, platelets adhere to collagen in the vascular subendothelium within seconds of injury via a receptor made up of glycoprotein Ia and IIa and GPVI and to vWF via receptor GPIb/IX/V. The adherent platelets then release granules that lead to platelet activation and aggregation.


Neutral hyperaminoaciduria

description: The presence of an abnormally increased concentration of neutral amino acids in the urine. The neutral amino acids are tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine.


Factor X activation deficiency

description: Reduced ability to transform factor X into its activated form factor Xa.


Reduced factor XIII activity

description: Decreased activity of coagulation factor XIII (also known as fibrin stabilizing factor). Activated Factor XIII cross-links fibrin polymers solidifying the clot.


Neonatal hypoproteinemia

description: A neonatal decreased concentration of proteins in the blood.


Aplasia/Hypoplasia of the hallux

description: Absence or underdevelopment of the big toe.


Aplasia/Hypoplasia of the tarsal bones

description: Absence or underdevelopment of the tarsal bones.


Abnormality of the calcaneus

description: An abnormality of the calcaneus, also known as the heel bone, one of the or heel bone, one of the components of the tarsus of the foot which make up the heel.


Abnormal talus morphology

description: An abnormality of the talus.


Foot joint contracture

description: Contractures of one or more joints of the feet meaning chronic loss of joint motion due to structural changes in non-bony tissue.


Abnormal tarsal ossification

description: An abnormality of the formation and mineralization of any of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones.


Abnormal metatarsal ossification

description: Any abnormal process of ossification of the metatarsal bones, which normally are each ossified from two centers: one for the body, and one for the head (metatarsal II,III,IV, and V) and one for the body and one for the base (metatarsal I). The ossification process begins in the center of the body about the ninth week, and extends toward either extremity. The center for the base of the first metatarsal appears about the third year, and the centers for the heads of the other bones between the fifth and eighth years. They join the bodies between the eighteenth and twentieth years.


name: Abnormal circulating vitamin A concentration

description: Concentration of vitamin A in the blood circulation outside limits of normal.


Slow-growing nails

description: Nails whose growth is slower than normal.


Aplasia/Hypoplasia of the nails

description: Aplasia or developmental hypoplasia of the nail.


Abnormal toenail morphology

description: An anomaly of the toenail.


name: Recurrent loss of toenails and fingernails

description: Repeated loss, or shedding, of the nails of the fingers and toes.


Dystrophic fingernails

description: The presence of misshapen or partially destroyed nail plates, often with accumulation of soft, yellow keratin between the dystrophic nail plate and nail bed, resulting in elevation of the nail plate.


Subungual hyperkeratosis

description: A thickening of the stratum corneum in the region beneath the nails.


Chronic monilial nail infection

description: Chronic infection of the nails by Candida species.


Hypoplastic fifth fingernail

description: A nail of the fifth finger that is diminished in length and width, i.e., underdeveloped nail of little finger.


Circumungual hyperkeratosis

description: A thickening of the stratum corneum, the outer layer of the skin, in the region surrounding the nails.


Onycholysis of distal fingernails

description: Detachment of the distal fingernails from the nail bed.


Onychogryposis of toenails

description: Thickened toenails.


Ridged fingernail

description: Longitudinal, linear prominences in the fingernail plate.


Vertebral hypoplasia

description: Small, underdeveloped vertebral bodies.


Punctate vertebral calcifications

description: The presence of punctiform calcification of the bone of the vertebral bodies.


Vertebral wedging

description: An abnormal shape of the vertebral bodies whereby the vertebral bodies are thick on one side and taper to a thin edge at the other.


Spinal dysplasia

description: The presence of developmental dysplasia of the vertebral column.


name: Cuboid-shaped thoracolumbar vertebral bodies


Vertebral clefting

description: Schisis (cleft or cleavage) of vertebral bodies.


Anterior beaking of lumbar vertebrae

description: Anterior tongue-like protrusions of the vertebral bodies of the lumbar spine.


Anterior wedging of L1

description: An abnormality of the shape of the lumbar vertebra L1 such that it is wedge-shaped (narrow towards the front).


name: Absent in utero ossification of vertebral bodies


Vertebral arch anomaly

description: A morphological abnormality of the vertebral arch, i.e., of the posterior part of a vertebra.


Lumbar hemivertebrae

description: Absence of one half of the vertebral body in the lumbar spine.


C1-C2 vertebral abnormality

description: Any abnormality of the atlas and the axis.


Herniation of intervertebral nuclei

description: The presence of one or more herniated nucleus pulposus of intervertebral disk.


Vertebral hyperostosis

description: Excessive growth of the bones of the vertebral bodies.


Neuropathic spinal arthropathy

description: A progressive disorder of vertebral joint degeneration that occurs in the setting of any condition characterized by decreased afferent innervation, involving loss of deep pain and proprioceptive sensation in the vertebral column. Patients most commonly present with symptoms of lower back pain, sitting imbalance, progressive spinal deformity (usually kyphosis), and an audible clicking sound on changing postures.


Posterior wedging of vertebral bodies

description: An abnormality of the shape of vertebrae, such that they are wedge-shaped (narrow towards the back).


Cervical spinal canal stenosis

description: An abnormal narrowing of the cervical spinal canal.


name: Progressive cervical vertebral spine fusion


name: Narrow vertebral interpedicular distance

description: A reduction of the distance between vertebral pedicles, which are the two short, thick processes, which project backward, one on either side, from the upper part of the vertebral body, at the junction of its posterior and lateral surfaces.


Lumbar kyphosis

description: Over curvature of the lumbar region.


Dysplastic sacrum

description: A developmental defect of the sacrum characterized by partial or disordered development of the sacrum in which portions of the sacrum, which normally is formed by fusion of five sacral vertebrae S1-S5, fail to form or fail to form normally.


C2-C3 subluxation

description: A partial dislocation of the intervertebral joint between the second and third cervical vertebrae.


Caudal interpedicular narrowing

description: Narrowing (becoming gradually narrower) of the distance between vertebral pedicles that gets progressively more severe towards to caudal (lower) end of the vertebral column. Note that normally, the interpedicular distances get progressively wider as one proceeds down the spine.


Progressive congenital scoliosis

description: A progressive form of scoliosis with congenital onset.


name: Absent spinous processes of lower thoracic and lumbar vertebrae


Absent vertebra

description: A developmental defect characterized by agenesis of one or more vertebral bodies.


Thoracic hemivertebrae

description: Absence of one half of the vertebral body in the thoracic spine.


Abnormal sacral segmentation

description: An abnormality related to a defect of vertebral separation of sacral vertebrae during development.


name: Lower thoracic interpediculate narrowness

description: A reduction of the distance between the lower thoracic vertebral pedicles.


name: Narrow anterio-posterior vertebral body diameter

description: An abnormal reduction of the anterioposterior diameter of the vertebral body.


Poorly ossified cervical vertebrae

description: Decreased ossification of the cervical vertebral bodies, i.e., of the Cervical vertebrae set.


name: Cervical vertebral bodies with decreased anteroposterior diameter


description: A reduction of the distance between thoracolumbar vertebral pedicles.


Lumbar interpedicular narrowing

description: Narrowing (becoming gradually narrower) of the distance between lumbar vertebral pedicles that gets progressively more severe towards to caudal (lower) end of the vertebral column.


Spondylolisthesis at L5-S1

description: Complete bilateral fractures of the pars interarticularis resulting in the anterior slippage of the fifth lumbar vertebral body (L5) onto the sacrum (level S1).


Premature anterior fontanel closure

description: Early closure (ossification) of the anterior fontanelle, which generally undergoes closure around the 18th month of life.


Inferior lens subluxation

description: Partial displacement of the lens in the inferior direction.


name: Moderate sensorineural hearing impairment

description: The presence of a moderate form of sensorineural hearing impairment.


Central posterior corneal opacity

description: Reduced transparency of the central posterior portion of the corneal stroma.


Bilateral conductive hearing impairment

description: A bilateral type of conductive hearing impairment.


name: Abnormality of the vertebral spinous processes


Aplasia/Hypoplasia of the sacrum

description: Aplasia or developmental hypoplasia of the sacral bone.


name: Aplasia/Hypoplasia involving the vertebral column


Abnormal coccyx morphology

description: Any structural abnormality of the coccyx.


Posterior helix pit

description: Permanent indentation on the posteromedial aspect of the helix that may be sharply or indistinctly delineated.


name: Congenital sensorineural hearing impairment

description: A type of hearing impairment caused by an abnormal functionality of the cochlear nerve with congenital onset.


Absence of acoustic reflex

description: Absence of the acoustic reflex, an involuntary contraction of the stapedius muscle that occurs in response to high-intensity sound stimuli.


name: Cleft at the superior portion of the pinna


Low-frequency hearing loss

description: A type of hearing impairment affecting primarily the low frequencies of sound (125 Hz to 1000 Hz).


Abnormally folded helix

description: Any structural anomaly of the border of the helix, which usually forms a rolled rim but is highly variable in shape.


Cochlear malformation

description: The presence of a malformed cochlea.


Absent vestibular function

description: Complete lack of functioning of the vestibular apparatus.


Vestibular areflexia

description: Vestibular areflexia can be measured as the absence of the caloric nystagmus response in electronystagmography.


Microtia, second degree

description: Median longitudinal length of the ear more than two standard deviations below the mean in the presence of some, but not all, parts of the normal ear.


name: Low-frequency sensorineural hearing impairment

description: A form of sensorineural hearing impairment that affects primarily the lower frequencies.


Underfolded helix

description: Underdevelopment of the helix that either affects the entire helix, or is localized.


Underfolded superior helices

description: A condition in which the superior portion of the helix is folded over to a lesser degree than normal.


Hypoplasia of the cochlea

description: Developmental hypoplasia of the cochlea.


Mild neurosensory hearing impairment

description: The presence of a mild form of sensorineural hearing impairment.


name: Slit-like opening of the exterior auditory meatus

description: A type of stenosis of the external auditory meatus in which the opening of the external auditory meatus appears as a vertical slit.


Hypoplastic helices

description: Underdevelopment of the helix, i.e., of the outer rim of the pinna.


name: Congenital conductive hearing impairment

description: A type of conductive deafness with congenital onset.


Prominent antitragus

description: Increased anterosuperior prominence of the area between the bottom of the incisura and the inner margin of the antihelix.


name: Postlingual sensorineural hearing impairment

description: A form of sensorineural hearing impairment with onset after the acquisition of speech.


Mild conductive hearing impairment

description: A mild form of conductive hearing impairment.


Supraauricular pit

description: Benign congenital lesion of the supraauricular soft tissue consisting of a blind-ending narrow tube or pit.


name: Progressive conductive hearing impairment

description: A progressive type of conductive deafness.


Abnormal middle ear morphology

description: An abnormality of the morphology or structure of the middle ear.


name: Infantile sensorineural hearing impairment

description: A form of sensorineural hearing impairment with infantile onset.


name: Adult onset sensorineural hearing impairment

description: The presence of sensorineural deafness with late onset.


name: Bilateral sensorineural hearing impairment

description: A bilateral form of sensorineural hearing impairment.


Severe sensorineural hearing impairment

description: A severe form of sensorineural hearing impairment.


Abnormality of the stapes

description: An abnormality of the stapes, a stirrup-shaped ossicle in the middle ear.


Pulsatile tinnitus

description: Pulsatile tinnitus is generally classified a kind of objective tinnitus, meaning that it is not only audible to the patient but also to the examiner on auscultation of the auditory canal and/or of surrounding structures with use of an auscultation tube or stethoscope. Usually, pulsatile tinnitus is heard as a lower pitched thumping or booming, a rougher blowing sound which is coincidental with respiration, or as a clicking, higher pitched rhythmic sensation.


Ureteral dysgenesis

description: A developmental anomaly of the ureter.


Agonadism

description: Absence of sex glands (gonads are the organs that produce gametes; testis in males and ovary in females).


Urinary bladder wall hypertrophy

description: Increase in thickness of the wall of the urinary bladder. This finding may be seen in conditions such as bladder outlet obstruction and may be accompanied by increased trabeculation of the bladder wall musculature.


Nephroblastomatosis

description: Presence of persistent islands of renal blastema in the postnatal kidney. Nephroblastomatosis represents a complex abnormality of nephrogenesis and has been defined as the persistence of metanephricblastema into infancy and childhood.


name: Pubertal developmental failure in females


name: Uric acid urolithiasis independent of gout


Autonomic erectile dysfunction

description: Impotence (inability to develop or maintain an erection) resulting from abnormal functioning of the autonomic nervous system.


name: Aplasia/Hypoplasia of the fallopian tube

description: Aplasia or developmental hypoplasia of the fallopian tube.


Multiple small medullary renal cysts

description: The presence of many cysts in the medulla of the kidney.


Clitoral hypertrophy

description: Hypertrophy of the clitoris.


name: Impaired histidine renal tubular absorption


Abnormal spermatogenesis

description: Incomplete maturation or aberrant formation of the male gametes.


Calcium oxalate nephrolithiasis

description: The presence of calcium- and oxalate-containing calculi (stones) in the kidneys.


Congenital megaureter

description: A developmental disturbance with extreme ureteral dilatation.


Renal hypoplasia/aplasia

description: Absence or underdevelopment of the kidney.


Enlarged labia minora

description: Increase in size of the folds of skin between the outer labia.


Aplasia/hypoplasia of the uterus

description: Absence or developmental hypoplasia of the uterus.


Bilateral cryptorchidism

description: Absence of both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum.


Solitary bladder diverticulum

description: Presence of a single diverticulum (sac or pouch) in the wall of the urinary bladder.


Renal hamartoma

description: A disordered proliferation of mature tissues that are native to the kidneys.


Hypoplasia of the fallopian tube

description: Developmental hypoplasia of the fallopian tube.


Gonadal calcification

description: Deposition of calcium salts in gonadal tissue.


Absent scrotum

description: Congenital absence of the scrotum.


Urethrovaginal fistula

description: The presence of a fistula between the vagina and the urethra.


Unilateral renal atrophy

description: A unilateral form of atrophy of the kidney.


Unilateral renal dysplasia

description: A unilateral form of developmental dysplasia of the kidney.


Urethral diverticulum

description: The presence of a diverticulum (sac or pouch) in the wall of the urethra.


name: Gonadal dysgenesis with female appearance, male

description: Unusual gonadal development in a person with a 46,XY male karyotype, leading to a more female sex differentiation.


Hypoplasia of the ovary

description: Developmental hypoplasia of the ovary.


Hypoplasia of the vagina

description: Developmental hypoplasia of the vagina.


name: Female external genitalia in individual with 46,XY karyotype

description: The presence of female external genitalia in a person with a male karyotype.


Renal hypophosphatemia

description: Renal hypophosphatemia is defined as reduced serum phosphate (e.g., below 0.70 mmol/l) and an inappropriately high renal phosphate excretion.


Decreased testicular size

description: Reduced volume of the testicle (the male gonad).


Partially duplicated kidney

description: The presence of a partially duplicated kidney.


Longitudinal vaginal septum

description: The presence of a longitudinal vaginal septum, thereby creating a vaginal duplication.


Coronal hypospadias

description: A mild form of hypospadias in which the urethra opens just under the corona glandis.


Abnormal aryepiglottic fold morphology

description: An abnormality of the aryepiglottic fold.


Cartilaginous ossification of larynx

description: Ossification affecting the set of cartilages of larynx.


Laryngeal hypoplasia

description: Underdevelopment of the larynx.


Laryngeal cartilage malformation

description: A malformation of the laryngeal cartilage.


Aplasia of the epiglottis

description: Absence of the epiglottis.


Laryngeal calcification

description: Calcification (abnormal deposits of calcium) in the laryngeal tissues.


Bowing of the vocal cords

description: Bowing (abnormal curvature) of the vocal folds.


Unilateral vocal cord paralysis

description: A loss of the ability to move the vocal fold on one side.


Violent behavior

description: Conduct and/or behavior, both verbal and non-verbal, including but not limited to verbal and/or physical aggression, attacks, threats, harassment, intimidation, and other disruptive behaviors in any form or through any medium, that cause or have the potential to cause a reasonable person to fear physical harm from any individual(s) or group(s) towards any person(s) or property. This is commonly defined as a violent act characterized by the use of physical force, anger, or sudden intense activity.