Cleft palate, and Schizophrenia

Diseases related with Cleft palate and Schizophrenia

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


Top matches:

Medium match X-LINKED INTELLECTUAL DISABILITY WITH MARFANOID HABITUS


The Lujan-Fryns syndrome or X-linked mental retardation (XLMR) with marfanoid habitus syndrome is a syndromic X-linked form of intellectual disability, associated with tall, marfanoid stature, distinct facial dysmorphism and behavioral problems.

X-LINKED INTELLECTUAL DISABILITY WITH MARFANOID HABITUS Is also known as lujan syndrome|mental retardation, x-linked, with marfanoid habitus|lujan-fryns syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY WITH MARFANOID HABITUS

Medium match VELOCARDIOFACIAL SYNDROME


VELOCARDIOFACIAL SYNDROME Is also known as chromosome 22q11.2 deletion syndrome|shprintzen vcf syndrome|vcf syndrome|vcfs

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about VELOCARDIOFACIAL SYNDROME

Medium match DIGEORGE SYNDROME; DGS


DiGeorge syndrome (DGS) comprises hypocalcemia arising from parathyroid hypoplasia, thymic hypoplasia, and outflow tract defects of the heart. Disturbance of cervical neural crest migration into the derivatives of the pharyngeal arches and pouches can account for the phenotype. Most cases result from a deletion of chromosome 22q11.2 (the DiGeorge syndrome chromosome region, or DGCR). Several genes are lost including the putative transcription factor TUPLE1 which is expressed in the appropriate distribution. This deletion may present with a variety of phenotypes: Shprintzen, or velocardiofacial, syndrome (VCFS ); conotruncal anomaly face (or Takao syndrome); and isolated outflow tract defects of the heart including tetralogy of Fallot, truncus arteriosus, and interrupted aortic arch. A collective acronym CATCH22 has been proposed for these differing presentations. A small number of cases of DGS have defects in other chromosomes, notably 10p13 (see {601362}). In the mouse, a transgenic Hox A3 (Hox 1.5) knockout produces a phenotype similar to DGS as do the teratogens retinoic acid and alcohol.

DIGEORGE SYNDROME; DGS Is also known as hypoplasia of thymus and parathyroids|chromosome 22q11.2 deletion syndrome|third and fourth pharyngeal pouch syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about DIGEORGE SYNDROME; DGS

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Other less relevant matches:

Medium match 22Q11.2 DELETION SYNDROME


22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency.

22Q11.2 DELETION SYNDROME Is also known as monosomy 22q11|digeorge sequence|sedlackova syndrome|takao syndrome|velocardiofacial syndrome|shprintzen syndrome|conotruncal anomaly face syndrome|digeorge syndrome|catch 22|cayler cardiofacial syndrome|microdeletion 22q11.2|22q11ds

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about 22Q11.2 DELETION SYNDROME

Medium match INTELLECTUAL DISABILITY-CATARACTS-CALCIFIED PINNAE-MYOPATHY SYNDROME


Intellectual disability-cataracts-calcified pinnae-myopathy syndrome is a rare, genetic intellectual disability syndrome characterized by macrocephaly, hypotonia, dysmorphic facial features (wide forehead, ptosis, downslanting palpebral fissures, enlarged and calcified external ears, large jaw), sparse body hair, tall stature, and intellectual disability. Hearing loss, insulin-resistant diabetes, and progressive distal muscle wasting (leading to joint contractures) have also been reported in adulthood. Rare manifestations include behavioral abnormalities (aggression and restlessness), hypothyroidism, cerebral calcification, ataxia, and peripheral neuropathy.

INTELLECTUAL DISABILITY-CATARACTS-CALCIFIED PINNAE-MYOPATHY SYNDROME Is also known as primrose syndrome|ossified ear cartilages with mental deficiency, muscle wasting, and bony changes

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about INTELLECTUAL DISABILITY-CATARACTS-CALCIFIED PINNAE-MYOPATHY SYNDROME

Medium match WILLIAMS SYNDROME


Williams syndrome is a rare genetic multisystemic neurodevelopmental disorder characterized by a distinct facial appearance, cardiac anomalies (most frequently supravalvular aortic stenosis), cognitive and developmental abnormalities, and connective tissue abnormalities (such as joint laxity)

WILLIAMS SYNDROME Is also known as deletion 7q11.23|williams syndrome|williams-beuren syndrome|chromosome 7q11.23 deletion syndrome, 1.5- to 1.8-mb|wms|monosomy 7q11.23|ws

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about WILLIAMS SYNDROME

Medium match MENTAL RETARDATION, X-LINKED 30; MRX30


MENTAL RETARDATION, X-LINKED 30; MRX30 Is also known as mental retardation, x-linked 47|mrx47

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • High palate


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 30; MRX30

Medium match HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY


Classic homocystinuria is an autosomal recessive metabolic disorder of sulfur metabolism. The clinical features of untreated homocystinuria due to CBS deficiency usually manifest in the first or second decade of life and include myopia, ectopia lentis, mental retardation, skeletal anomalies resembling Marfan syndrome (MFS ), and thromboembolic events. Light skin and hair can also be present. Biochemical features include increased urinary homocystine and methionine. There are 2 main phenotypes of the classic disorder: a milder pyridoxine (vitamin B6)-responsive form, and a more severe pyridoxine-nonresponsive form. Pyridoxine is a cofactor for the CBS enzyme, and can aid in the conversion of homocysteine to cysteine (summary by Reish et al., 1995 and Testai and Gorelick, 2010).Some patients have been reported to have a milder form of homocystinuria, which is characterized by increased plasma homocysteine and increased risk for thrombotic events in young adulthood, but without the other skeletal, ocular, or nervous system manifestations observed in classic homocystinuria (Kelly et al., 2003).

HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY Is also known as cystathionine beta-synthase deficiency|cbs deficiency|homocystinuria with or without response to pyridoxine

Related symptoms:

  • Intellectual disability
  • Seizures
  • Failure to thrive
  • High palate
  • Myopia


SOURCES: OMIM MENDELIAN

More info about HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY

Medium match MITOCHONDRIAL MYOPATHY-CEREBELLAR ATAXIA-PIGMENTARY RETINOPATHY SYNDROME


MITOCHONDRIAL MYOPATHY-CEREBELLAR ATAXIA-PIGMENTARY RETINOPATHY SYNDROME Is also known as mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MITOCHONDRIAL MYOPATHY-CEREBELLAR ATAXIA-PIGMENTARY RETINOPATHY SYNDROME

Medium match 17Q12 MICRODELETION SYNDROME


17q12 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 17 characterized by renal cystic disease, maturity onset diabetes of the young type 5, and neurodevelopmental disorders, such as cognitive impairment, developmental delay (particularly of speech), autistic traits and autism spectrum disorder. Müllerian aplasia in females, macrocephaly, mild facial dysmorphism (high forehead, deep set eyes and chubby cheeks) and transient hypercalcaemia have also been reported.

17Q12 MICRODELETION SYNDROME Is also known as del(17)(q12)|monosomy 17q12

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 17Q12 MICRODELETION SYNDROME

Top 5 symptoms//phenotypes associated to Cleft palate and Schizophrenia

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Seizures Very Common - Between 80% and 100% cases
Behavioral abnormality Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Cleft palate and Schizophrenia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Micrognathia

Uncommon Symptoms - Between 30% and 50% cases


Short stature

Common Symptoms - More than 50% cases


High palate

Uncommon Symptoms - Between 30% and 50% cases


Hearing impairment

Common Symptoms - More than 50% cases


Generalized hypotonia

Uncommon Symptoms - Between 30% and 50% cases


Delayed speech and language development Anxiety Hypothyroidism Inguinal hernia Aggressive behavior Autism Pectus excavatum Intellectual disability, mild Depressivity Atrial septal defect Microcephaly Abnormal facial shape Ventricular septal defect Tetralogy of Fallot Open mouth Umbilical hernia Hydrocephalus Muscular hypotonia Cryptorchidism Cognitive impairment Flexion contracture Attention deficit hyperactivity disorder Protruding ear Obsessive-compulsive behavior Cholelithiasis Malar flattening Unilateral renal agenesis Patent ductus arteriosus Cataract Nasal speech Obesity Ptosis Posterior embryotoxon Immunodeficiency Autoimmunity Blepharophimosis Renal hypoplasia Arthritis Conductive hearing impairment Retrognathia Abnormal heart morphology Abnormality of cardiovascular system morphology Thrombocytopenia Glaucoma Spina bifida Dysmetria Acne Aplasia of the uterus Seborrheic dermatitis Retinal vascular tortuosity Truncus arteriosus Meningocele Hypoparathyroidism Strabismus Bipolar affective disorder Hypertonia Microphthalmia Narrow mouth Arnold-Chiari malformation Bulbous nose Bicuspid aortic valve Purpura Failure to thrive Hypocalcemia Epicanthus Primary amenorrhea Downslanted palpebral fissures Amenorrhea Specific learning disability Renal agenesis Vesicoureteral reflux Intellectual disability, severe Impaired T cell function Hypoplasia of the corpus callosum Diabetes mellitus Prominent nasal bridge Joint hyperflexibility Arachnodactyly Long face Short neck Psychosis Poor coordination Restlessness High forehead Hyperactivity Short philtrum Abnormality of the dentition Macrocephaly Macrotia Kyphoscoliosis Osteoporosis Anemia Feeding difficulties Intrauterine growth retardation Low-set ears Myopathy Growth delay Ataxia

Rare Symptoms - Less than 30% cases


Renal insufficiency Duodenal stenosis Hypoplasia of the thymus Tetany Amblyopia Coarctation of aorta Conotruncal defect Aplasia of the thymus Delayed skeletal maturation Mandibular prognathia Arteria lusoria Craniosynostosis Abnormality of the kidney Cleft lip Telecanthus Hydronephrosis Elevated serum creatine phosphokinase Right aortic arch with mirror image branching Cerebellar hypoplasia Stroke Mitral valve prolapse Recurrent urinary tract infections Sacral meningocele Hypertelorism Neoplasm Small nail Myopia Short nose Kyphosis Developmental regression Osteopenia Gait ataxia Pes cavus Abnormality of dental enamel Midface retrusion Anteverted nares Feeding difficulties in infancy Chronic otitis media Abnormality of the skeletal system Hyperthyroidism Gait disturbance Patellar dislocation Multiple renal cysts Right aortic arch Carious teeth Broad forehead Vascular tortuosity Urethral stenosis Tremor Wide nasal bridge Depressed nasal bridge Abnormal glucose tolerance Generalized osteoporosis Long philtrum Abnormal form of the vertebral bodies Genu valgum Constipation Upslanted palpebral fissure Thick lower lip vermilion Otitis media Distal amyotrophy Gastroesophageal reflux Myalgia Retinal arteriolar tortuosity Myocardial infarction Platybasia Hemolytic anemia Dilatation Rheumatoid arthritis Narrow face Dysdiadochokinesis Fever Hallucinations Multicystic kidney dysplasia Renal dysplasia Low posterior hairline Agenesis of corpus callosum Dental crowding Chorea Bifid uvula Anal atresia Velopharyngeal insufficiency Pulmonic stenosis Congenital cataract Abnormality of the pinna Brachycephaly Thin upper lip vermilion Joint laxity Posteriorly rotated ears Neurological speech impairment Hypoplasia of the maxilla Recurrent infections Broad thumb Hypospadias Absent speech Psoriasiform dermatitis Hernia Myopathic facies Vitiligo Disproportionate tall stature Perimembranous ventricular septal defect Interrupted aortic arch Inflammation of the large intestine Graves disease Abnormality of the voice Autoimmune thrombocytopenia Myelomeningocele Frontal bossing Basal ganglia calcification Autoimmune hemolytic anemia Juvenile rheumatoid arthritis Cystic renal dysplasia Thyroid hypoplasia Increased nuchal translucency Parathyroid hyperplasia Abnormality of upper lip Blue irides Vocal cord paralysis Abnormality of the vasculature Abnormal endocardium morphology Aplasia/Hypoplasia of the iris Ureterocele Down-sloping shoulders Hypoplasia of the zygomatic bone Pulmonary artery stenosis Renal duplication Soft skin Nevus flammeus Arnold-Chiari type I malformation Phonophobia Abnormality of nervous system morphology Chronic constipation Cerebral ischemia Lacrimation abnormality Abnormal renal morphology Subvalvular aortic stenosis Peripheral pulmonary artery stenosis Decreased plasma carnitine Peptic ulcer Periorbital fullness Periorbital edema Abnormality of lipid metabolism Abnormality of refraction Rectal prolapse Dyslexia Hypoplasia of the bladder Villous atrophy Enuresis Abnormality of the cerebral vasculature Aplasia of the vagina Abnormality of the neck Large earlobe Tubulointerstitial nephritis Arterial stenosis Dysgraphia Bladder diverticulum Right ventricular hypertrophy Gait imbalance Hallux valgus Megalocornea Hemivertebrae Reduced bone mineral density Infantile muscular hypotonia Ischemic stroke Sacral dimple Widely spaced teeth Progressive hearing impairment Abnormal dermatoglyphics Cutis laxa Spina bifida occulta Abnormality of the fingernails Nephrocalcinosis Hypogonadotrophic hypogonadism Abnormality of pelvic girdle bone morphology Pointed chin Increased body weight Increased bone mineral density Hoarse voice Aortic valve stenosis Gingival overgrowth Nephrolithiasis Involuntary movements Pancreatic aplasia Mitral regurgitation Recurrent otitis media Hemiparesis Adducted thumb Incoordination Insomnia Polyuria Facial cleft Prematurely aged appearance High hypermetropia Celiac disease Vertebral segmentation defect Premature graying of hair Ureteral atresia Colonic diverticula Pica Open bite Loss of consciousness Glucose intolerance Polycystic ovaries Tracheoesophageal fistula Hypoplastic toenails Abnormality of dental morphology Nephritis Portal hypertension Precocious puberty Radioulnar synostosis Failure to thrive in infancy Hypercalcemia Redundant skin Hypercalciuria Dysphonia Hyperconvex nail Ovarian cyst Abnormality of the ankles Brittle hair Biconcave vertebral bodies Facial asymmetry Cerebral edema Precocious atherosclerosis Peripheral arterial stenosis Stage 5 chronic kidney disease Transient ischemic attack Pulmonary embolism Thromboembolism Cutis marmorata Ectopia lentis Short palm Hypermethioninemia Atherosclerosis Short foot Pancreatitis Aspiration Highly arched eyebrow Tall stature Oligohydramnios Limitation of joint mobility Hypopigmentation of the skin Retinal detachment Hepatic steatosis Pectus carinatum Personality disorder Muscle weakness Edema Falls Limb ataxia Frequent falls Gowers sign Intention tremor Increased variability in muscle fiber diameter Multiple lipomas Pigmentary retinopathy Sensory impairment Small hand Inability to walk Mitochondrial myopathy Distal sensory impairment Prolactin excess Motor delay Thick hair Speech articulation difficulties Enlarged interhemispheric fissure Cerebral atrophy Elevated hepatic transaminase Retinopathy Distal muscle weakness Pallor Difficulty walking Nail dystrophy Hyporeflexia Hypermetropia Bilateral sensorineural hearing impairment Long ear Tubulointerstitial abnormality Upper limb undergrowth Infantile hypercalcemia Large fontanelles Sparse and thin eyebrow Horizontal nystagmus Renal hypoplasia/aplasia Focal impaired awareness seizure Food intolerance Pelvic kidney Language impairment Long fingers Hyperacusis Shawl scrotum Truncal ataxia Renovascular hypertension Maturity-onset diabetes of the young Coronary artery stenosis Long toe Renal artery stenosis Abnormality of the bladder Synostosis of joints Hyperechogenic kidneys Subcortical cerebral atrophy Nocturia Obsessive-compulsive trait Aortic arch aneurysm Overriding aorta Abnormality of the gastric mucosa Abnormal social behavior Short attention span Nystagmus-induced head nodding Agitation Delayed gross motor development Drooling Flat face Atrophy/Degeneration involving the corticospinal tracts Vocal cord dysfunction Descending aorta hypoplasia Functional abnormality of male internal genitalia Stellate iris Dyssynergia Early onset of sexual maturation Overfriendliness Thyroid hemiagenesis Flat cornea Bilateral vocal cord paralysis Elfin facies Medial flaring of the eyebrow Abnormality of the diencephalon Abnormal carotid artery morphology Paroxysmal bursts of laughter Myxomatous mitral valve degeneration Unilateral renal hypoplasia Hypertrichosis Calcification of the aorta Impaired visuospatial constructive cognition Supravalvular aortic stenosis Homocystinuria Osteolysis Ventricular hypertrophy Parathyroid agenesis Hypopigmented skin patches Aganglionic megacolon Choanal atresia Gastrointestinal hemorrhage Intestinal malrotation Asthma Polyhydramnios Splenomegaly Talipes equinovarus Optic atrophy Type I truncus arteriosus Parathyroid hypoplasia Polycystic kidney dysplasia Decreased circulating parathyroid hormone level Accommodative esotropia Esophoria Abnormality of the thymus Abnormality of the middle ear Perisylvian polymicrogyria Alcoholism Femoral hernia Anterior segment developmental abnormality Sclerocornea Exotropia Short palpebral fissure Laryngomalacia Hand polydactyly Iris coloboma Abnormal thrombocyte morphology Abnormality of the tonsils Tricuspid atresia Multiple suture craniosynostosis Abnormal aortic arch morphology Hypertensive crisis Anorectal anomaly Abnormal pulmonary valve morphology Arrhinencephaly Small earlobe Abnormality of the pharynx Abnormal aortic valve morphology Corneal neovascularization Abnormality of the thorax Abnormality of the uterus Chronic obstructive pulmonary disease Atelectasis Varicose veins Abnormal eyelid morphology Abnormality of the skull Turricephaly Abnormal lung lobation Foot polydactyly Bowel incontinence Dysphasia Overfolded helix High, narrow palate Polymicrogyria Peripheral neuropathy Aortic root aneurysm Mental deterioration Dementia Cerebellar atrophy Abnormally folded helix Cat cry Oppositional defiant disorder Low frustration tolerance Ascending tubular aorta aneurysm Impaired social interactions Abnormality of the rib cage Macroorchidism Slender finger Peripheral demyelination Narrow nasal bridge Long nose Emotional lability Aortic aneurysm Deep philtrum Abnormality of the genitourinary system Aplasia/Hypoplasia of the corpus callosum Short chin Anorexia Camptodactyly of finger Prominent forehead Brachydactyly Underdeveloped nasal alae Narrow palpebral fissure Astigmatism Mood swings Generalized tonic-clonic seizures Microtia Unilateral primary pulmonary dysgenesis Unilateral lung agenesis Congenital conductive hearing impairment Perineal fistula Vascular ring Central nervous system degeneration Psychotic episodes Giant platelets Paranoia Pulmonary artery atresia Holoprosencephaly Abnormality of the endocrine system Echolalia Pierre-Robin sequence Delusions Hearing abnormality Anal stenosis Submucous cleft hard palate Axonal loss Abnormality of the ear Hypoplasia of the brainstem Apathy Abnormality of the hand Occipital myelomeningocele Skeletal muscle atrophy Type II diabetes mellitus Coarse facial features Wide mouth Joint stiffness Paralysis Autistic behavior Irritability Hyperlordosis Low-set, posteriorly rotated ears Intellectual disability, moderate Hypertrophic cardiomyopathy Proteinuria Pes planus Arthralgia Abnormal cardiac septum morphology Micropenis Cerebral cortical atrophy Abdominal pain Recurrent respiratory infections Clinodactyly of the 5th finger Congestive heart failure Respiratory distress Dysarthria Hyperreflexia Hypertension Visual impairment Spasticity Scarring Small for gestational age Sensorineural hearing impairment Chest pain Hypsarrhythmia Cardiomegaly Abnormality of extrapyramidal motor function Hypoplasia of penis Hypotelorism Narrow forehead Abnormality of the cardiovascular system Dehydration Microdontia Esotropia Dental malocclusion Sudden cardiac death Corneal opacity Full cheeks Macroglossia Broad nasal tip Hypodontia Postural instability Sleep disturbance Everted lower lip vermilion Thick vermilion border Oral cleft Smooth philtrum Malabsorption Nausea and vomiting Pain Superiorly displaced ears Areflexia Sparse scalp hair Melanocytic nevus Self-injurious behavior Abnormal palate morphology Plagiocephaly Spastic paraparesis Knee flexion contracture Paraparesis Hypergonadotropic hypogonadism Clonus Gynecomastia Thickened skin Bradykinesia Metatarsus adductus Cerebral calcification Hip dysplasia Nevus Neurodegeneration Downturned corners of mouth Short distal phalanx of finger Narrow chest Synophrys Abnormal pyramidal sign Deeply set eye Hypogonadism Babinski sign Bilateral cryptorchidism Anonychia Calcification of the auricular cartilage Bone cyst Increased size of the mandible Absent facial hair Posterior scalloping of vertebral bodies Torus palatinus Motor tics Basilar impression Absent axillary hair Posterior polar cataract Narrow iliac wings Ectopic calcification Recurrent ear infections Tics Truncal obesity Dystrophic fingernails Broad face Progressive gait ataxia Thoracic kyphosis Irregular vertebral endplates Insulin-resistant diabetes mellitus Striae distensae Hip contracture Congenital hypothyroidism Sparse body hair Ankle clonus Mixed hearing impairment Unicornuate uterus



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Intrauterine growth retardation and Choanal atresia, related diseases and genetic alterations Dysarthria and Heterotopia, related diseases and genetic alterations Fever and Polydactyly, related diseases and genetic alterations Obesity and Cerebral calcification, related diseases and genetic alterations Peripheral neuropathy and Large fontanelles, related diseases and genetic alterations

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