Hyperreflexia, and Platyspondyly

Diseases related with Hyperreflexia and Platyspondyly

In the following list you will find some of the most common rare diseases related to Hyperreflexia and Platyspondyly that can help you solving undiagnosed cases.

Top matches:

GM1 gangliosidosis type 3 is a mild, chronic, adult form of GM1 gangliosidosis (see this term) characterized by onset generally during childhood or adolescence and by cerebellar dysfunction.

GM1 GANGLIOSIDOSIS TYPE 3 Is also known as gangliosidosis, generalized gm1, type iii|gangliosidosis, generalized gm1, type 3|adult-onset gm1 gangliosidosis|gangliosidosis, generalized gm1, adult type|gangliosidosis, generalized gm1, chronic type

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about GM1 GANGLIOSIDOSIS TYPE 3

GM1 gangliosidosis type 2 is a clinically variable, infancy or childhood-onset form of GM1 gangliosidosis (see this term) characterized by normal early development and psychomotor regression between seven months and three years of age.

GM1 GANGLIOSIDOSIS TYPE 2 Is also known as late-infantile gm1 gangliosidosis|gangliosidosis, generalized gm1, type ii|juvenile gm1 gangliosidosis|gangliosidosis, generalized gm1, type 2|gangliosidosis, generalized gm1, juvenile type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Ataxia
  • Muscle weakness
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MENDELIAN

More info about GM1 GANGLIOSIDOSIS TYPE 2

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MENDELIAN

More info about IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES; ISDNA

Other less relevant matches:

Atelosteogenesis is the name given by Maroteaux et al. (1982) to a lethal chondrodysplasia characterized by distal hypoplasia of the humeri and femurs, hypoplasia of the midthoracic spine, occasionally complete lack of ossification of single hand bones, and the finding in cartilage of multiple degenerated chondrocytes encapsulated in fibrous tissue. Rimoin et al. (1980) termed it 'giant cell chondrodysplasia.' Patients with AO1 exhibit severe short-limbed dwarfism and dislocated elbows, hips, and knees (Jeon et al., 2014). Genetic Heterogeneity of AtelosteogenesisAtelosteogenesis type II (AO2 ) is caused by mutation in the SLC26A2 gene (OMIM ) on chromosome 5q32. AO3 (OMIM ) is also caused by mutation in the FLNB gene (OMIM ).

ATELOSTEOGENESIS, TYPE I; AO1 Is also known as giant cell chondrodysplasia|spondylohumerofemoral hypoplasia|aoi

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: MESH OMIM MENDELIAN

More info about ATELOSTEOGENESIS, TYPE I; AO1

Mucopolysaccharidosis type VII is an autosomal recessive lysosomal storage disease characterized by the inability to degrade glucuronic acid-containing glycosaminoglycans. The phenotype is highly variable, ranging from severe lethal hydrops fetalis to mild forms with survival into adulthood. Most patients with the intermediate phenotype show hepatomegaly, skeletal anomalies, coarse facies, and variable degrees of mental impairment (Shipley et al., 1993). MPS VII was the first autosomal mucopolysaccharidosis for which chromosomal assignment was achieved.

MUCOPOLYSACCHARIDOSIS, TYPE VII; MPS7 Is also known as beta-glucuronidase deficiency|mps vii|sly syndrome|gusb deficiency

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE VII; MPS7

Aspartylglucosaminuria is a severe autosomal recessive lysosomal storage disorder that involves the central nervous system and causes skeletal abnormalities as well as connective tissue lesions. The most characteristic feature is progressive mental retardation. The disorder is caused by deficient activity of the lysosomal enzyme glycosylasparaginase, which results in body fluid and tissue accumulation of a series of glycoasparagines, i.e., glycoconjugates with an aspartylglucosamine moiety at the reducing end. AGU belongs to the group of disorders commonly referred to as the Finnish disease heritage (summary by Mononen et al., 1993 and Arvio and Arvio, 2002).

ASPARTYLGLUCOSAMINURIA; AGU Is also known as glycoasparaginase|aga deficiency|aspartylglucosaminidase deficiency|aspartylglycosaminuria|glycosylasparaginase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MENDELIAN

More info about ASPARTYLGLUCOSAMINURIA; AGU

Alpha-mannosidosis is an autosomal recessive lysosomal storage disease characterized by mental retardation, coarse facial features, skeletal abnormalities, hearing impairment, neurologic motor problems, and immune deficiency. Expression of the disease varies considerably, and there is a wide spectrum of clinical findings and severity. Affected children are often normal at birth and during early development. They present in early childhood with delayed psychomotor development, delayed speech, and hearing loss. Additional features include large head with prominent forehead, rounded eyebrows, flattened nasal bridge, macroglossia, widely spaced teeth, dysostosis multiplex, and motor impairment (summary by Malm and Nilssen, 2008). Classification SystemsTwo classification systems have been used to describe the clinical presentation of alpha-mannosidosis. The earlier system delineated a more severe 'type I,' which shows infantile onset, rapid mental deterioration, hypotonia, splenomegaly, severe dysostosis multiplex, and severe recurrent infections, often resulting in death by age 8 years. Individuals with the less severe 'type II' show normal early development with later childhood development of mental retardation, hearing loss, coarse facies, neurologic deterioration, and survival well into adulthood (summary by Desnick et al., 1976 and Gotoda et al., 1998). A later classification system delineated 3 clinical types. Type 1 is the mildest form, with onset after age 10 years, without skeletal abnormalities and very slow progression. Type 2 is a moderate form, with onset before age 10 years, presence of skeletal abnormalities, and slow progression with development of ataxia by age 20 to 30 years. Type 3 is the severe form, with onset in early infancy, skeletal abnormalities, and obvious progression leading to early death from primary central nervous system involvement or myopathy. Most patients belong to clinical type 2 (summary by Malm and Nilssen, 2008). Despite the clinical heterogeneity of the disorder, there are no apparent genotype/phenotype correlations (Berg et al., 1999; Riise Stensland et al., 2012).

MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA Is also known as alpha-mannosidosis|lysosomal alpha-d-mannosidase deficiency|alpha-mannosidase b deficiency

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA

Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, postnatal growth retardation and renal tubular dysfunction with chronic renal failure.

OCULOCEREBRORENAL SYNDROME OF LOWE Is also known as oculocerebrorenal dystrophy|phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency|oculo-cerebro-renal dystrophy|oculo-cerebro-renal syndrome|lowe disease|ocrl1|ocrl|ocr|lowe syndrome|phosphatidylinositol 4,5-bisphosphate 5-phosphatase deficiency|l

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about OCULOCEREBRORENAL SYNDROME OF LOWE

Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1; see this term) between the two extremes Hurler syndrome and Scheie syndrome (see these terms); it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development.

HURLER-SCHEIE SYNDROME Is also known as mucopolysaccharidosis type 1h/s|mucopolysaccharidosis type ih/s|mpsih/s|mps1-hs|mps1h/s

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Scoliosis


SOURCES: ORPHANET MENDELIAN

More info about HURLER-SCHEIE SYNDROME

SCHWARTZ-JAMPEL SYNDROME, TYPE 1; SJS1 Is also known as sja syndrome|schwartz-jampel-aberfeld syndrome|sjs|myotonic myopathy, dwarfism, chondrodystrophy, and ocular and facial abnormalities|schwartz-jampel syndrome|chondrodystrophic myotonia

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about SCHWARTZ-JAMPEL SYNDROME, TYPE 1; SJS1

Top 5 symptoms//phenotypes associated to Hyperreflexia and Platyspondyly

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Kyphosis Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Hyperreflexia and Platyspondyly. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Motor delay

Uncommon Symptoms - Between 30% and 50% cases

Generalized hypotonia

Common Symptoms - More than 50% cases

Abnormal facial shape

Uncommon Symptoms - Between 30% and 50% cases

Depressed nasal bridge

Common Symptoms - More than 50% cases

Skeletal dysplasia

Uncommon Symptoms - Between 30% and 50% cases

Inguinal hernia

Common Symptoms - More than 50% cases

Seizures

Uncommon Symptoms - Between 30% and 50% cases

Short neck

Common Symptoms - More than 50% cases

Spasticity

Uncommon Symptoms - Between 30% and 50% cases

Cognitive impairment Kyphoscoliosis Hepatosplenomegaly Coarse facial features Hypertelorism Recurrent respiratory infections Umbilical hernia Recurrent infections Abnormality of the skeletal system Gait disturbance Coxa valga Cataract Ventriculomegaly Pain Severe short stature Nystagmus Micrognathia Dysostosis multiplex Lumbar hyperlordosis Widely spaced teeth Macroglossia Genu valgum Corneal opacity Talipes equinovarus Hernia Macrocephaly Splenomegaly Hepatomegaly Hearing impairment Growth delay Pectus carinatum Mandibular prognathia Delayed speech and language development Neurodegeneration Intellectual disability, mild Ataxia Behavioral abnormality Skeletal muscle atrophy Muscle weakness Delayed skeletal maturation Frontal bossing Proptosis Mental deterioration Flexion contracture Vacuolated lymphocytes Otitis media Chronic otitis media Cardiomyopathy Flat occiput Loss of speech Hyperactive deep tendon reflexes Opacification of the corneal stroma Muscular hypotonia Microcephaly Generalized myoclonic seizures Full cheeks Respiratory tract infection Anteverted nares Abnormality of the dentition Feeding difficulties Osteopenia Hip dysplasia Epicanthus Gingival overgrowth Malar flattening Visceromegaly Blindness Oligosacchariduria Cerebral atrophy Anxiety Constipation Depressivity Midface retrusion Rigidity

Rare Symptoms - Less than 30% cases

Edema Intellectual disability, moderate Abnormality of the ribs Joint contracture of the hand Visual impairment Hydrocephalus Glaucoma Respiratory insufficiency Talipes Polyhydramnios Macrotia Gastroesophageal reflux Deeply set eye Hyperlordosis Poor speech Joint stiffness Coronal cleft vertebrae Carious teeth Abnormality of dental enamel Recurrent fractures Aspiration Hyporeflexia Spondyloepiphyseal dysplasia Abnormality of the gingiva Myopathy Thick eyebrow Pathologic fracture Long philtrum Bowing of the long bones Gait ataxia Nyctalopia Wide nose Gliosis Psychosis Progressive neurologic deterioration Retinal degeneration Intellectual disability, severe Thickened calvaria Spondylolisthesis Spondylolysis Hypermetropia Strabismus Sensorineural hearing impairment Myopia Arthritis Areflexia Diarrhea Amblyopia Hirsutism Spinal cord compression Ascites Abnormal cornea morphology Hypertrichosis Hydrops fetalis Generalized hirsutism Hydrocele testis Elbow flexion contracture Abnormal heart valve morphology Patellar dislocation Decreased pulmonary function Open bite Heart murmur Broad ribs Thoracolumbar kyphosis Increased intracranial pressure Narrow palate J-shaped sella turcica Heparan sulfate excretion in urine Dermatan sulfate excretion in urine Congenital hip dislocation Camptodactyly of finger Neurodevelopmental delay Immunodeficiency Renal insufficiency Optic atrophy Failure to thrive Hypertension Decreased beta-galactosidase activity Anterior beaking of lumbar vertebrae Angiokeratoma Brachydactyly Cervical instability Abnormality of the face Myoclonus Abnormality of the nervous system Muscular hypotonia of the trunk Narrow greater sacrosciatic notches Flared iliac wings Craniosynostosis Abnormality of femoral epiphysis Decreased antibody level in blood Limb undergrowth Progressive spasticity Babinski sign Fever Respiratory distress Short nose Prominent forehead Low-set ears Developmental regression Cryptorchidism Hypertonia Brachycephaly Pes cavus Tetraplegia Abdominal pain Spastic tetraplegia Dysarthria Bicarbonaturia Renal tubular dysfunction Elevated maternal serum alpha-fetoprotein Generalized hypopigmentation Atelectasis Taurodontia Abnormality of dentin Periodontitis Hyperaldosteronism Gingivitis Atypical scarring of skin Multiple renal cysts Joint swelling Renal tubular acidosis Blepharospasm Osteomalacia Odontogenic neoplasm Myotonia Hyperphosphaturia Abnormality of the renal tubule Abnormality of calcium-phosphate metabolism Chorioretinal dysplasia Vitamin D deficiency Proximal renal tubular acidosis Urogenital fistula Renal Fanconi syndrome Keloids Benign neoplasm of the central nervous system Cheilitis Glomerulopathy Malignant hyperthermia Periventricular cysts Elevated amniotic fluid alpha-fetoprotein Skeletal muscle hypertrophy High pitched voice Hip contracture Finger swelling Lacrimation abnormality Abnormal pupil morphology Elevated serum acid phosphatase Buphthalmos Constrictive median neuropathy Abnormality of mucopolysaccharide metabolism Abnormal joint morphology Generalized muscle hypertrophy Stereotypy Nephrolithiasis Dental crowding Hypoplasia of dental enamel Subcutaneous nodule Abnormality of the metaphysis Open mouth Osteoarthritis Sparse scalp hair Fine hair Shoulder flexion contracture Dehydration Aciduria Increased serum lactate Clonus Abnormal bleeding Smooth tongue Delayed eruption of teeth Metabolic acidosis Everted lower lip vermilion Hematuria Joint hypermobility Long face Joint hyperflexibility Delayed puberty Long eyelashes in irregular rows Malabsorption Congenital cataract Abnormality of epiphysis morphology Skin ulcer Hyperparathyroidism Rickets Congenital glaucoma Hypoplasia of the musculature Dysphasia Hypophosphatemia Wrist flexion contracture Wrist swelling Weak voice Diabetes insipidus Spinal deformities Obsessive-compulsive behavior Hyponatremia Self-injurious behavior Glomerulonephritis Abnormality of the voice Pursed lips Hypokalemia Flexion contracture of toe Hypercalciuria Deep philtrum Reduced number of teeth Hypercholesterolemia Neoplasm of the skin Azoospermia Temperature instability Talipes valgus Aminoaciduria Nephrocalcinosis Percussion myotonia Lentiglobus Retrognathia Hypoammonemia Hip dislocation Dilation of lateral ventricles Sparse pubic hair Sparse axillary hair Communicating hydrocephalus Tracheal stenosis Abnormality of the ulna Hypoplastic iliac wing Diastasis recti Chronic sinusitis Obstructive sleep apnea Papilledema Blepharitis Protuberant abdomen Cor pulmonale Rhinitis Spinal canal stenosis Arthropathy Exertional dyspnea Restrictive ventilatory defect Abnormality of lysosomal metabolism Posterior scalloping of vertebral bodies Abnormality of the skull base Abnormality of the sella turcica Abnormal metaphyseal trabeculation Multiple joint contractures Toe walking Anterior scalloping of vertebral bodies Short tubular bones of the hand Sagittal craniosynostosis Back pain Mitral valve calcification Abnormality of the tonsils Exercise-induced muscle stiffness Dilated third ventricle Abnormality of the acetabulum Thickened ribs Progressive flexion contractures Abnormality of the breast Optic nerve compression Frontal hirsutism Urinary glycosaminoglycan excretion Delayed menarche Hernia of the abdominal wall Hip subluxation Shield chest Abnormality of the optic disc Aortic valve calcification Small abnormally formed scapulae Abnormality of the radius Corneal crystals Peripheral edema Abnormal nerve conduction velocity Wide cranial sutures Platybasia Carpal bone hypoplasia Abnormal diaphysis morphology Myelopathy Nasal obstruction Abnormality of dental morphology Abnormality of cranial sutures Overfolded helix Limb muscle weakness Asthma Sleep disturbance Camptodactyly Blepharophimosis Thick vermilion border Astigmatism Flat face Microcornea Decreased testicular size Abnormal autonomic nervous system physiology EMG abnormality Lower limb muscle weakness Coxa vara Pes planus Synophrys Narrow palpebral fissure Dolichocephaly Abnormal pyramidal sign Conductive hearing impairment Arthralgia Limited shoulder movement Sleep apnea Hyperkeratosis Metaphyseal widening Headache Congestive heart failure Dense posterior cortical cataract Apnea Limitation of joint mobility Coarse hair Ptosis Abnormality of the glenoid fossa Abnormality of the lumbar spine Abnormality of glycosaminoglycan metabolism Easy fatigability Arnold-Chiari malformation Widely patent coronal suture Increased size of nasopharyngeal adenoids Contractures of the joints of the upper limbs Abnormality of the styloid process of ulna Abnormality of the metacarpal bones Abnormality of the humeral epiphysis Knee flexion contracture Dysphagia Progressive visual loss Hyperhidrosis Osteoporosis Short ribs Aortic valve stenosis Abnormal vertebral morphology Abnormality of retinal pigmentation Thickened skin Lower limb spasticity Narrow mouth Abnormal form of the vertebral bodies Recurrent otitis media Cardiomegaly Microdontia Peripheral visual field loss Cerebellar atrophy Attention deficit hyperactivity disorder Rhizomelia Elbow dislocation Short metatarsal Hyperkinesis Disproportionate short-limb short stature Drooling Abnormality of the outer ear Joint dislocation Absence seizures Recurrent pneumonia Muscle stiffness Meningitis Sinusitis Recurrent urinary tract infections Clubbing Encephalocele Short metacarpal Premature birth Abdominal distention Inability to walk Nausea Narrow chest Generalized tonic-clonic seizures Autistic behavior Autism Weight loss Respiratory failure Oral-pharyngeal dysphagia Tibial bowing Hypospadias Thoracic platyspondyly Broad-based gait Webbed neck Vertigo Facial asymmetry Postnatal growth retardation Hypertrophic cardiomyopathy Dyspnea Arrhythmia Dilatation Distal tapering femur Multinucleated giant chondrocytes in epiphyseal cartilage Club-shaped proximal femur Multiple joint dislocation Atonic seizures Laryngeal stenosis Aplasia/Hypoplasia of the ulna Long clavicles Fibular aplasia Intestinal pseudo-obstruction Lethal skeletal dysplasia Fused cervical vertebrae 11 pairs of ribs Short femur Radial bowing Bell-shaped thorax Short humerus Pneumonia Vomiting Recurrent upper respiratory tract infections Generalized dystonia Brisk reflexes Spastic paraparesis Paraparesis Clumsiness Generalized muscle weakness Abnormality of the liver Posteriorly rotated ears Hypoplastic acetabulae Stuttering Facial grimacing Foam cells Diffuse cerebral atrophy Abnormality of blood and blood-forming tissues Abnormality of the spleen Generalized amyotrophy Athetosis Slurred speech Spastic tetraparesis Tetraparesis Intention tremor Abnormality of extrapyramidal motor function Urinary incontinence Chorea Parkinsonism Dystonia Tremor Developmental stagnation Psychomotor deterioration Cleft palate Eosinophilia Severe platyspondyly Hypoplasia of the capital femoral epiphysis Delayed ossification of carpal bones Hepatic cysts Severe combined immunodeficiency Dislocated radial head Metaphyseal dysplasia Disproportionate short stature Opisthotonus Combined immunodeficiency Erythroderma Epiphyseal dysplasia Lymphopenia Loss of ability to walk Progressive microcephaly Inflammatory abnormality of the skin Generalized-onset seizure Prominent nose Broad nasal tip Single transverse palmar crease Anal atresia Pectus excavatum Sea-blue histiocytosis Lumbar kyphosis Progressive psychomotor deterioration Decerebrate rigidity Cardiac arrest Pterygium Protruding ear Bronchitis Cranial hyperostosis Abnormal echocardiogram Synovitis Abnormality of the rib cage Craniofacial hyperostosis Abnormality of the helix Reduced ejection fraction Impaired smooth pursuit Delusions Severe sensorineural hearing impairment Aseptic necrosis Limb dystonia Abnormality of the sternum Retinal thinning Femoral bowing Bowel incontinence Bowing of the legs Prominent supraorbital ridges Recurrent bacterial infections Low anterior hairline Spastic gait Hallucinations Limb ataxia Tall stature Depressed nasal ridge Pancytopenia Long ear Cerebral dysmyelination Optic disc pallor Microphthalmia Irritability Feeding difficulties in infancy Low-set, posteriorly rotated ears Aggressive behavior Proteinuria Neonatal hypotonia EEG abnormality Thin upper lip vermilion Acidosis Reduced visual acuity Upslanted palpebral fissure Thrombocytopenia Anemia Synostosis of joints Spinocerebellar tract disease in lower limbs Flattened moderately deformed vertebrae Synovial hypertrophy Progressive joint destruction Abnormality of dental structure Antineutrophil antibody positivity Abnormality of joint mobility Abnormality of the ilium Hypoplastic inferior ilia Generalized abnormality of skin Increased hepatic glycogen content Increased vertebral height Type II diabetes mellitus Peripheral demyelination Pleural effusion Proximal tapering of metacarpals Overgrowth Neuronal loss in central nervous system Neutropenia Wide mouth Erythema Joint laxity Hydronephrosis High forehead Hyperactivity Visual loss Abnormality of metabolism/homeostasis Anterior beaking of lower thoracic vertebrae Pseudoarthrosis Mitral regurgitation Snoring Thoracic kyphoscoliosis Prominent sternum Acetabular dysplasia Pulmonary insufficiency Recurrent ear infections Nonimmune hydrops fetalis Thoracolumbar scoliosis Thoracic kyphosis Hypoplasia of the odontoid process Mild short stature Metatarsus adductus Thick lower lip vermilion Involuntary movements Dental malocclusion Methemoglobinemia Delayed myelination Progressive cerebellar ataxia Highly arched eyebrow Confusion Dysmetria Abnormality of the foot Abnormality of the cerebral white matter Neurological speech impairment Broad forehead Aspartylglucosaminuria Angiofibromas Angiokeratoma corporis diffusum Cranial asymmetry Chronic diarrhea Hypoplastic frontal sinuses Adenoma sebaceum Facial edema Abnormality of the ovary Broad face Macroorchidism Beaking of vertebral bodies Palpebral edema Muscle fibrillation Emotional lability Acne Intellectual disability, progressive Hoarse voice Anterior bowing of long bones


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