Hyperreflexia, and Wide nose

Diseases related with Hyperreflexia and Wide nose

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


Top matches:

Medium match NON-PROGRESSIVE CEREBELLAR ATAXIA WITH INTELLECTUAL DISABILITY


Non-progressive cerebellar ataxia with intellectual deficit is a rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by the onset in infancy of cerebellar ataxia, neonatal hypotonia (in some), mild developmental delay and, in later life, intellectual disability. Less common features include dysarthria, dysmetria and dysmorphic facial features (long face, bulbous nose long philtrum, thick lower lip and pointed chin).

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about NON-PROGRESSIVE CEREBELLAR ATAXIA WITH INTELLECTUAL DISABILITY

Medium match SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2; SGBS2


An extremely rare and severe early-lethal form of Simpson-Golabi-Behmel syndrome. The disease is an overgrowth-multiple anomalies syndrome with characteristics of hydrops fetalis, macrocephaly, facial dysmorphism, short neck, redundant skin, skeletal defects (involving upper and lower limbs), hypoplastic nails, gastrointestinal and genitourinary anomalies, hypotonia and neurologic impairment. Severe intellectual disability, obesity and infections (pneumonia, sepsis) have been reported.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism
  • Abnormal facial shape


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2; SGBS2

Medium match MUCOPOLYSACCHARIDOSIS-LIKE SYNDROME WITH CONGENITAL HEART DEFECTS AND HEMATOPOIETIC DISORDERS


MPSPS is an autosomal recessive inborn error of metabolism resulting in a multisystem disorder with features of the mucopolysaccharidosis lysosomal storage diseases (see, e.g., {607016}). Patients present in infancy or early childhood with respiratory difficulties, cardiac problems, anemia, dysostosis multiplex, renal involvement, coarse facies, and delayed psychomotor development. Most patients die of cardiorespiratory failure in the first years of life (summary by Kondo et al., 2017).

MUCOPOLYSACCHARIDOSIS-LIKE SYNDROME WITH CONGENITAL HEART DEFECTS AND HEMATOPOIETIC DISORDERS Is also known as mucopolysaccharidosis-like plus disease

Related symptoms:

  • Global developmental delay
  • Abnormal facial shape
  • Spasticity
  • Anemia
  • Flexion contracture


SOURCES: OMIM ORPHANET MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS-LIKE SYNDROME WITH CONGENITAL HEART DEFECTS AND HEMATOPOIETIC DISORDERS

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Other less relevant matches:

Medium match 2Q32Q33 MICRODELETION SYNDROME


2q32q33 microdeletion syndrome is a recently described syndrome characterized by a variable phenotype involving moderate to severe intellectual deficit, significant speech delay, persistent feeding difficulties, growth retardation and dysmorphic features.

2Q32Q33 MICRODELETION SYNDROME Is also known as monosomy 2q32-q33|2q32-q33 microdeletion syndrome|del(2)(q32q33)|chromosome 2q32-q33 deletion syndrome|monosomy 2q32q33|del(2)(q32)|monosomy 2q32

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about 2Q32Q33 MICRODELETION SYNDROME

Medium match ASPARTYLGLUCOSAMINURIA; AGU


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

Medium match MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME TYPE 2


Multiple congenital anomalies-hypotonia-seizures syndrome type 2 is a rare, genetic, lethal, neurometabolic malformation syndrome characterized by multiple, variable, congenital cardiac (systolic murmur, atrial septal defect), urinary (duplicated collecting system, vesicoureteral reflux) and central nervous system (thin corpus callosum, cerebellar hypoplasia) malformations associated with neonatal hypotonia, early-onset epileptic encephalopathy, and myoclonic seizures. Craniofacial dysmorphism (prominent occiput, enlarged fontanel, fused metopic suture, upslanted palpebral fissures, overfolded helix, depressed nasal bridge, anteverted nose, malar flattening, microstomy with downturned corners, Pierre-Robin sequence, high arched palate, short neck) and other manifestions (joint contractures, hyperreflexia, dysplastic nails, developmental delay) are also observed.

MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME TYPE 2 Is also known as epileptic encephalopathy, early infantile, 20|gpibd4|mcahs type 2|glycosylphosphatidylinositol biosynthesis defect 4|eiee20

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME TYPE 2

Medium match VICI SYNDROME


Vici syndrome is a very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency.

VICI SYNDROME Is also known as immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum|corpus callosum agenesis-cataract-immunodeficiency syndrome|dionisi-vici-sabetta-gambarara syndrome

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about VICI SYNDROME

Medium match HURLER-SCHEIE SYNDROME


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

Medium match PMP22-RAI1 CONTIGUOUS GENE DUPLICATION SYNDROME


Yuan-Harel-Lupski syndrome is a complex neurodevelopmental disorder characterized by global developmental delay and early-onset peripheral neuropathy. The disorder comprises features of both demyelinating Charcot-Marie-Tooth disease type 1A (CMT1A ), which results from duplication of the PMP22 gene on 17p12, and Potocki-Lupski syndrome (PTLS ), which results from duplication of a slightly proximal region on 17p11.2 that includes the RAI1 gene. These 2 loci are about 2.5 Mb apart. The resultant YUHAL phenotype may be more severe in comparison to the individual contributions of each gene, with particularly early onset of peripheral neuropathy and features of both central and peripheral nervous system involvement (summary by Yuan et al., 2015).

PMP22-RAI1 CONTIGUOUS GENE DUPLICATION SYNDROME Is also known as trisomy 17p11.2-p12|dup(17)(p11.2p12)|trisomy 17p11.2p12|yuan-harel-lupski syndrome|17p11.2p12 microduplication syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about PMP22-RAI1 CONTIGUOUS GENE DUPLICATION SYNDROME

Medium match ANDERSEN-TAWIL SYNDROME


Andersen's syndrome (AS) is a rare disorder characterized by periodic muscle paralysis, prolongation of the QT interval with a variety of ventricular arrhythmias (leading to predisposition to sudden cardiac death) and characteristic physical features: short stature, scoliosis, low-set ears, hypertelorism, broad nasal root, micrognathia, clinodactyly, brachydactyly and syndactyly.

ANDERSEN-TAWIL SYNDROME Is also known as andersen syndrome|long qt syndrome type 7|lqt7

Related symptoms:

  • Short stature
  • Scoliosis
  • Hypertelorism
  • Micrognathia
  • Abnormal facial shape


SOURCES: ORPHANET MENDELIAN

More info about ANDERSEN-TAWIL SYNDROME

Top 5 symptoms//phenotypes associated to Hyperreflexia and Wide nose

Symptoms // Phenotype % cases
Abnormal facial shape Very Common - Between 80% and 100% cases
Global developmental delay Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Anteverted nares

Uncommon Symptoms - Between 30% and 50% cases


Long philtrum

Common Symptoms - More than 50% cases


High palate

Uncommon Symptoms - Between 30% and 50% cases


Coarse facial features

Common Symptoms - More than 50% cases


Short stature

Uncommon Symptoms - Between 30% and 50% cases


Micrognathia Spasticity Cleft palate Short neck Low-set ears Macrocephaly Seizures Microcephaly Recurrent respiratory infections Joint laxity Hepatomegaly Depressed nasal bridge Inguinal hernia Thin upper lip vermilion Cardiomyopathy Muscular hypotonia Hearing impairment Delayed speech and language development Scoliosis Flexion contracture Retrognathia Pneumonia Triangular face Sleep disturbance Epicanthus Feeding difficulties Intellectual disability, severe Posteriorly rotated ears Malar flattening Respiratory tract infection Wide mouth Dolichocephaly Cognitive impairment Generalized myoclonic seizures Motor delay Macroglossia Hepatosplenomegaly Nystagmus Strabismus Abnormality of the foot Downslanted palpebral fissures Cerebellar atrophy Thick vermilion border Constipation Cerebellar hypoplasia Hyperactivity Cerebral cortical atrophy Gait ataxia Narrow mouth Dysostosis multiplex Hernia Delayed myelination Broad forehead Splenomegaly Widely spaced teeth Abnormal pyramidal sign Bulbous nose

Rare Symptoms - Less than 30% cases


Clinodactyly of the 5th finger Absent speech Coarse hair Thickened skin Long eyelashes Hirsutism Flared iliac wings Beaking of vertebral bodies Ptosis J-shaped sella turcica Behavioral abnormality Abnormality of the dentition Brachydactyly Sensorineural hearing impairment Growth delay Peripheral neuropathy Febrile seizures Brachycephaly Nyctalopia Diarrhea Kyphosis Cerebral atrophy Recurrent infections Myoclonus Developmental regression Platyspondyly Cataract Neutropenia Aspiration Gliosis Neuronal loss in central nervous system Overgrowth Progressive neurologic deterioration Gait disturbance Upslanted palpebral fissure High forehead Downturned corners of mouth Osteopenia Postnatal growth retardation Poor speech Smooth philtrum Thin vermilion border Short palm Limb muscle weakness Respiratory failure Pectus carinatum Microdontia Sepsis Broad-based gait Oligodontia Abnormality of dental morphology Muscular hypotonia of the trunk Synophrys Failure to thrive Gingival overgrowth Small nail Hyperactive deep tendon reflexes Broad nasal tip Short finger Abnormality of retinal pigmentation Deep philtrum Joint stiffness Intellectual disability, progressive Multicystic kidney dysplasia Thick lower lip vermilion Broad thumb Infantile muscular hypotonia Unsteady gait Dilated cardiomyopathy Micropenis Clinodactyly Obesity Short nose Talipes equinovarus Hypertrophic cardiomyopathy High, narrow palate Palpebral edema Large forehead Abnormal cortical gyration Long face Congenital hip dislocation Atrial septal defect Edema Abnormality of the skeletal system Abnormal heart morphology Intellectual disability, mild Abnormality of the optic disc Optic atrophy Skeletal dysplasia Neonatal hypotonia Congestive heart failure Aggressive behavior Patent ductus arteriosus Wide nasal bridge Anemia Ataxia Respiratory distress Knee flexion contracture Generalized hirsutism Neurodevelopmental delay Elbow flexion contracture Coxa valga Macular atrophy Abnormality of dental enamel Arthropathy Short ribs Aortic valve stenosis Protuberant abdomen Lower limb spasticity Abnormal form of the vertebral bodies Severe failure to thrive Recurrent otitis media Lumbar hyperlordosis Depressed nasal tip Abnormal vertebral morphology Easy fatigability Opacification of the corneal stroma Bronchitis Exertional dyspnea Optic neuropathy Abnormality of immune system physiology Spinal canal stenosis Renal tubular acidosis Restrictive ventilatory defect Rhinitis Hypopigmentation of hair Centrally nucleated skeletal muscle fibers Cardiomegaly Severe sensorineural hearing impairment Abnormality of the metacarpal bones IgG deficiency Aspiration pneumonia Multiple joint contractures Toe walking Heart murmur Chronic otitis media Back pain Abnormal heart valve morphology Increased intracranial pressure Arnold-Chiari malformation Abnormality of the ribs Muscle flaccidity Progressive visual loss Penile hypospadias Headache Respiratory insufficiency Visual impairment Recurrent fungal infections Acute bronchitis Abnormal posturing Granulocytopenia Pontocerebellar atrophy Abnormality of the mandible White matter neuronal heterotopia Severe T-cell immunodeficiency Decreased proportion of CD4-positive T cells Immunoglobulin IgG2 deficiency Hypopigmentation of the fundus Recurrent aspiration pneumonia Ureteral atresia Aplasia/Hypoplasia of the macula Decreased T cell activation Cutaneous anergy Abnormal immunoglobulin level Frontoparietal polymicrogyria Peripheral visual field loss Schizencephaly Abnormality of the thymus Abnormality of the cerebellar vermis Abnormal macular morphology Pes cavus Severe short stature Ocular albinism Carious teeth Hip dysplasia Otitis media Limitation of joint mobility Renal tubular dysfunction Asthma Fair hair Hypoplasia of the pons Retinal degeneration Astigmatism Lower limb muscle weakness Chronic mucocutaneous candidiasis Recurrent viral infections Hypermetropia Abdominal pain Hypoplasia of the thymus Corneal opacity Camptodactyly of finger Craniosynostosis Conductive hearing impairment Umbilical hernia Arthralgia Kyphoscoliosis Proptosis Hyperkeratosis Glaucoma Cellular immunodeficiency Genu valgum Abnormality of the breast Blepharitis Syndactyly Hypoplasia of dental enamel Palpitations Specific learning disability Short metacarpal Syncope Sudden cardiac death Hypoplasia of the maxilla Small hand Toe syndactyly Elevated serum creatine phosphokinase Arrhythmia Depressivity Demyelinating peripheral neuropathy Cardiac arrest Chronic constipation Syringomyelia Delayed ability to walk Onion bulb formation Decreased number of peripheral myelinated nerve fibers Failure to thrive in infancy Decreased nerve conduction velocity Sensory impairment Distal sensory impairment Abnormal cardiac septum morphology Areflexia Abnormality of the humeral epiphysis Abnormality of the styloid process of ulna Short phalanx of finger Bilateral single transverse palmar creases Increased size of nasopharyngeal adenoids Abnormal atrioventricular conduction Prominent frontal sinuses Bidirectional ventricular ectopy Antegonial notching of mandible Muscle fiber tubular inclusions Effort-induced polymorphic ventricular tachycardias Periodic hypokalemic paresis Short mandibular rami Short digit Clinodactyly of the 5th toe First degree atrioventricular block Delayed eruption of permanent teeth Periodic paralysis Abnormal T-wave Torsade de pointes Scapular winging T-wave inversion Left bundle branch block Ventricular extrasystoles Prolonged QT interval Right bundle branch block 2-3 toe syndactyly Myotonia Short metatarsal Growth abnormality Ventricular arrhythmia Reduced tendon reflexes Abnormal palate morphology Ventricular tachycardia Contractures of the joints of the upper limbs Widely patent coronal suture Papilledema Sagittal craniosynostosis Aortic valve calcification Abnormality of the radius Corneal crystals Peripheral edema Abnormal nerve conduction velocity Wide cranial sutures Platybasia Carpal bone hypoplasia Abnormal diaphysis morphology Abnormal cornea morphology Myelopathy Nasal obstruction Shield chest Cor pulmonale Hip subluxation Dilation of lateral ventricles Sparse pubic hair Broad ribs Sparse axillary hair Communicating hydrocephalus Hydrocele testis Tracheal stenosis Abnormality of the ulna Hypoplastic iliac wing Diastasis recti Spinal cord compression Chronic sinusitis Obstructive sleep apnea Abnormality of the gingiva Mitral valve calcification Abnormality of glycosaminoglycan metabolism Dilated third ventricle Abnormality of the lumbar spine Abnormality of the glenoid fossa Abnormality of cranial sutures Anterior scalloping of vertebral bodies Abnormality of femoral epiphysis Abnormal metaphyseal trabeculation Abnormality of the sella turcica Abnormality of the skull base Posterior scalloping of vertebral bodies Abnormality of lysosomal metabolism Short tubular bones of the hand Small abnormally formed scapulae Albinism Exercise-induced muscle stiffness Heparan sulfate excretion in urine Abnormality of the tonsils Limited shoulder movement Abnormality of mucopolysaccharide metabolism Abnormality of the acetabulum Dermatan sulfate excretion in urine Thickened ribs Progressive flexion contractures Optic nerve compression Frontal hirsutism Cervical instability Urinary glycosaminoglycan excretion Delayed menarche Hernia of the abdominal wall Combined immunodeficiency Vesicoureteral reflux Congenital sensorineural hearing impairment Prominent nose Microretrognathia Dental crowding Thin skin Hemiparesis Short palpebral fissure Fine hair Intellectual disability, profound Decreased testicular size Convex nasal ridge Nail dysplasia Dental malocclusion Ectodermal dysplasia Tented upper lip vermilion Thick eyebrow Arachnodactyly Talipes Joint hyperflexibility Facial asymmetry Abnormality of the cerebral white matter Prominent nasal bridge Short philtrum Attention deficit hyperactivity disorder Sparse hair Camptodactyly Anxiety Drooling Relative macrocephaly Hyperhidrosis Generalized osteoporosis Narrow jaw Conspicuously happy disposition Narrow maxilla Incomprehensible speech Dacryocystitis Large beaked nose Median cleft palate Toe clinodactyly Happy demeanor Pes valgus Overbite Excessive salivation Cleft soft palate Dermal atrophy Conical tooth Broad hallux phalanx Short columella Self-mutilation Narrow nose Abnormality of the periventricular white matter Restlessness Abnormality of digit Long nose Myopathic facies Bilateral talipes equinovarus Overlapping toe Autism Osteoporosis Abnormality of metabolism/homeostasis Positive Romberg sign Tapered finger Single transverse palmar crease Segmental myoclonic seizures Hypoplastic hippocampus Hippocampal atrophy Short ear Mesiodens Narrow nasal tip Poor motor coordination Abnormal social behavior Nonprogressive cerebellar ataxia Impaired social interactions Recurrent upper respiratory tract infections Brisk reflexes Pointed chin Depressed nasal ridge Intention tremor Memory impairment Dysmetria Autistic behavior Protruding ear Deeply set eye Gastroesophageal reflux Tremor Dysarthria Wide intermamillary distance Radial deviation of finger Midface retrusion Cerebral calcification Frontal bossing Hypoplastic acetabulae Obstructive lung disease Macrovesicular hepatic steatosis Acetabular dysplasia Tubular atrophy Barrel-shaped chest Focal segmental glomerulosclerosis Glomerulosclerosis Bone marrow hypocellularity Joint contracture of the hand Abnormal lung morphology Brain atrophy Broad palm Hepatic steatosis Hip dislocation Telecanthus Proteinuria Prominent forehead Pectus excavatum Thrombocytopenia Facial capillary hemangioma U-Shaped upper lip vermilion Abnormality of the rib cage Thickened nuchal skin fold Scaphocephaly Blindness Visual loss Poor suck Micronodular cirrhosis Dilatation Immunodeficiency Hypertonia Myopathy Ventriculomegaly Muscle weakness Abnormality of the pons Birth length greater than 97th percentile Olfactory lobe agenesis Alveolar ridge overgrowth Triangular mouth Duplicated collecting system Agenesis of corpus callosum Hemoglobinuria Seborrheic dermatitis Breech presentation Developmental stagnation High anterior hairline Cardiorespiratory arrest Pierre-Robin sequence Epileptic spasms Central hypotonia Absent septum pellucidum Infantile spasms Prominent occiput Hypospadias Rod-cone dystrophy Overfolded helix Cerebellar vermis hypoplasia Adducted thumb Aplasia/Hypoplasia of the corpus callosum Leukopenia Recurrent bacterial infections Increased body weight Lymphopenia Progressive microcephaly Decreased liver function Decreased body weight Left ventricular hypertrophy Heterotopia Open mouth Ventricular hypertrophy Acidosis Hypotelorism Narrow forehead Decreased antibody level in blood Hypopigmentation of the skin Pulmonary hypoplasia Polymicrogyria Cleft upper lip Congenital cataract Severe global developmental delay Feeding difficulties in infancy Cleft lip EEG abnormality Large for gestational age Scaling skin Delayed skeletal maturation Muscle fibrillation Cranial asymmetry Hypoplastic frontal sinuses Adenoma sebaceum Facial edema Vacuolated lymphocytes Visceromegaly Abnormality of the ovary Spondylolisthesis Broad face Macroorchidism Thickened calvaria Pathologic fracture Methemoglobinemia Emotional lability Acne Hoarse voice Hydrops fetalis Chronic diarrhea Involuntary movements Mitral regurgitation Psychosis Ascites Erythema Mental deterioration Hydronephrosis Angiokeratoma Angiokeratoma corporis diffusum Redundant skin Short distal phalanx of finger Elevated alkaline phosphatase Cerebral visual impairment Tall stature Postnatal microcephaly Large fontanelles Inflammatory abnormality of the skin Hypsarrhythmia Generalized-onset seizure Limb undergrowth Epileptic encephalopathy Webbed neck Hemolytic anemia Hepatic failure Spondylolysis Cirrhosis Ichthyosis Abnormality of eye movement Stroke Apnea Abnormality of the eye Polyhydramnios Encephalopathy Hypoplasia of the corpus callosum Aspartylglucosaminuria Angiofibromas Oligosacchariduria Aplasia/Hypoplasia of the maxilla



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