Abnormal facial shape, and Bradycardia

Diseases related with Abnormal facial shape and Bradycardia

In the following list you will find some of the most common rare diseases related to Abnormal facial shape and Bradycardia that can help you solving undiagnosed cases.


Top matches:

Medium match PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER); PBD3A


The peroxisomal biogenesis disorder (PBD) Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006).For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.Individuals with PBDs of complementation group 3 (CG3) have mutations in the PEX12 gene. For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Low-set ears
  • Hepatomegaly
  • Wide nasal bridge


SOURCES: MESH OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER); PBD3A

Medium match FATAL CONGENITAL HYPERTROPHIC CARDIOMYOPATHY DUE TO GLYCOGEN STORAGE DISEASE


FATAL CONGENITAL HYPERTROPHIC CARDIOMYOPATHY DUE TO GLYCOGEN STORAGE DISEASE Is also known as fatal congenital hypertrophic cardiomyopathy due to glycogenosis|fatal congenital hypertrophic cardiomyopathy due to gsd|phosphorylase kinase deficiency of heart|glycogen storage disease of heart

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Failure to thrive
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about FATAL CONGENITAL HYPERTROPHIC CARDIOMYOPATHY DUE TO GLYCOGEN STORAGE DISEASE

Medium match CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB; ARCL1B


Autosomal recessive cutis laxa type IB (ARCL1B) is characterized by the presence of severe systemic connective tissue abnormalities, including emphysema, cardiopulmonary insufficiency, birth fractures, arachnodactyly, and fragility of blood vessels. All symptoms refer to disturbed elastic fiber formation (summary by Hoyer et al., 2009).For a complete phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (OMIM ).

Related symptoms:

  • Generalized hypotonia
  • Microcephaly
  • Hypertelorism
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB; ARCL1B

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Other less relevant matches:

Medium match LETHAL NEONATAL SPASTICITY-EPILEPTIC ENCEPHALOPATHY SYNDROME


Lethal neonatal rigidity and multifocal seizure syndrome is a severe autosomal recessive epileptic encephalopathy characterized by onset of rigidity and intractable seizures at or soon after birth. Affected infants achieve no developmental milestones and die within the first months or years of life (summary by Saitsu et al., 2014).

LETHAL NEONATAL SPASTICITY-EPILEPTIC ENCEPHALOPATHY SYNDROME Is also known as lethal neonatal rigidity-multifocal seizure syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Micrognathia


SOURCES: OMIM ORPHANET MENDELIAN

More info about LETHAL NEONATAL SPASTICITY-EPILEPTIC ENCEPHALOPATHY SYNDROME

Low match CONGENITAL MULTICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA


Multiminicore disease (MMD) is an inherited neuromuscular disorder defined pathologically by the presence of multiple areas of reduced mitochondrial oxidative activity running along a limited extent of the longitudinal axis of the muscle fiber, so-called 'minicores.' These regions show sarcomere disorganization and mitochondria depletion. Typically, no dystrophic signs, such as muscle fiber necrosis or regeneration or significant endomysial fibrosis, are present. MMD is a pathologic diagnosis and shows clinical and genetic heterogeneity. Affected individuals have clinical features of a congenital myopathy, including neonatal hypotonia, delayed motor development, and generalized muscle weakness and amyotrophy, which may progress slowly or remain stable (Ferreiro and Fardeau, 2002).Patients with recessive mutations in the RYR1 gene typically show severe congenital muscular dystrophy with ophthalmoplegia, although there is phenotypic variability. Some patients may present in utero with fetal akinesia, arthrogryposis, and lung hypoplasia resulting in fetal or perinatal death (McKie et al., 2014). Skeletal muscle biopsy of patients with recessive RYR1 mutations show variable features, including central cores (Jungbluth et al., 2007), congenital fiber-type disproportion (CFTD) (Monnier et al., 2009), and centronuclear myopathy (Wilmshurst et al., 2010).

CONGENITAL MULTICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA Is also known as minicore myopathy|multicore myopathy|multiminicore disease with external ophthalmoplegia|multiminicore myopathy multicore myopathy with external ophthalmoplegia

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Growth delay
  • Hypertelorism
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL MULTICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA

Low match TIMOTHY SYNDROME


Timothy syndrome is a multi-system disorder characterized by cardiac, hand, facial and neurodevelopmental features that include QT prolongation, webbed fingers and toes, flattened nasal bridge, low-set ears, small upper jaw, thin upper lip, and characteristic features of autism or autistic spectrum disorders.

TIMOTHY SYNDROME Is also known as lqt8|long qt syndrome 8|long qt syndrome with syndactyly|long qt syndrome-syndactyly syndrome|long qt syndrome type 8

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about TIMOTHY SYNDROME

Low match MUENKE SYNDROME


Muenke syndrome is a syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis, midfacial retrusion, strabismus, hearing loss and developmental delay.

MUENKE SYNDROME Is also known as muenke nonsyndromic coronal craniosynostosis

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Hypertelorism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MUENKE SYNDROME

Low match BOHRING-OPITZ SYNDROME


Bohring-Opitz syndrome is characterised by intrauterine growth retardation (IUGR), failure to thrive, facial dysmorphism (prominent metopic suture and forehead nevus flammeus, a low frontal and temporal hairline with hirsutism, puffy cheeks, upslanting palpebral fissures, exophthalmos, hypertelorism, cleft lip and palate, retrognathia and low set ears), flexion deformities of the elbows and wrists, camptodactyly, ulnar deviation of the fingers, foot anomalies and severe developmental delay. Less than 20 patients have been described so far. Although the large majority of reported cases occurred sporadically, autosomal recessive inheritance has also been reported.

BOHRING-OPITZ SYNDROME Is also known as c-like syndrome|bos syndrome|bohring syndrome|oberklaid-danks syndrome|opitz trigonocephaly-like syndrome

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about BOHRING-OPITZ SYNDROME

Low match BASAL CELL NEVUS SYNDROME; BCNS


BASAL CELL NEVUS SYNDROME; BCNS Is also known as nevoid basal cell carcinoma syndrome|gorlin-goltz syndrome|gorlin syndrome|nbccs|multiple basal cell nevi, odontogenic keratocysts, and skeletal anomalies

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Scoliosis
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about BASAL CELL NEVUS SYNDROME; BCNS

Low match FABRY DISEASE


Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations.

FABRY DISEASE Is also known as ceramide trihexosidase deficiency|hereditary dystopic lipidosis|fd|alpha-galactosidase a deficiency|diffuse angiokeratoma|gla deficiency|angiokeratoma corporis diffusum|anderson-fabry disease

Related symptoms:

  • Seizures
  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment
  • Pain


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about FABRY DISEASE

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Bradycardia

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Low-set ears Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Downslanted palpebral fissures Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Abnormal facial shape and Bradycardia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Micrognathia Biventricular hypertrophy Intellectual disability Microcephaly Flexion contracture High palate Global developmental delay Prominent forehead Proptosis Hearing impairment Dilatation Wide nasal bridge Syndactyly Depressed nasal bridge Optic atrophy Ventricular septal defect Strabismus Cognitive impairment Feeding difficulties Hypotension Hypertrophic cardiomyopathy Hepatomegaly Apnea Scoliosis Muscular hypotonia Cleft palate Myopathy Respiratory insufficiency Cryptorchidism Hypoplasia of the corpus callosum

Rare Symptoms - Less than 30% cases


Prominent nasal bridge Abnormality of the dentition Constipation Arrhythmia Depressivity Abnormality of cardiovascular system morphology Recurrent infections Clinodactyly Abnormal autonomic nervous system physiology Pneumonia Behavioral abnormality Growth delay Gastroesophageal reflux Short neck Polyhydramnios Dysphagia Myopia Edema Ptosis Motor delay Talipes equinovarus Kyphoscoliosis Facial palsy Hypothyroidism Hypertension Autistic behavior Nevus Short stature Neoplasm Posteriorly rotated ears Retrognathia Cleft lip Cleft upper lip Oral cleft Pain Low anterior hairline Cataract Abdominal pain Mandibular prognathia Coarse facial features Carcinoma Proteinuria Papule Trigonocephaly Short foot Abnormal cardiac septum morphology Round face Carious teeth Sudden cardiac death Syncope Ventricular tachycardia Ventricular arrhythmia Atrioventricular block Sensorineural hearing impairment Brachydactyly High, narrow palate Macrocephaly Frontal bossing Abnormality of the skeletal system Hydrocephalus Midface retrusion Brachycephaly Anxiety Narrow forehead Abnormality of the kidney Cyanosis Congestive heart failure EEG abnormality Hypoglycemia Upslanted palpebral fissure Aortic root aneurysm Encephalopathy Ventriculomegaly Hyperreflexia Convex nasal ridge Heart murmur Muscular hypotonia of the trunk Spasticity Cardiomegaly Cardiomyopathy Congenital diaphragmatic hernia Spina bifida Joint dislocation Exercise intolerance Respiratory distress Sinus bradycardia Emphysema Myalgia Long philtrum Arachnodactyly Failure to thrive Joint laxity Inguinal hernia Pectus excavatum Hernia Feeding difficulties in infancy Joint hypermobility Areflexia Bulbous nose Shortened PR interval Peripheral neuropathy Plantar pits Hyperhidrosis Calcification of falx cerebri Headache Renal insufficiency Diarrhea Histiocytoma Curved fingers Vomiting Bifid ribs Cardiac fibroma Fatigue Hamartomatous stomach polyps Cardiac rhabdomyoma Anemia Odontogenic keratocysts of the jaw Ovarian fibroma Fever Irregular ossification of hand bones Bridged sella turcica Gliosis Hyperkeratosis Vertigo Urinary incontinence Chest pain Abdominal distention Muscle cramps Nephropathy Hematuria Thick vermilion border Thick eyebrow Tachycardia Nausea Stage 5 chronic kidney disease Paresthesia Dyspnea Delayed puberty Nausea and vomiting Malabsorption Abnormality of the cerebral white matter Pruritus Cough Stroke Skin rash Developmental regression Abnormality of the nervous system Arthritis Arthralgia Corneal opacity Parietal bossing Orbital cyst Palmoplantar keratoderma Nephritis Glomerulonephritis Relative macrocephaly Neoplasm of the skin Spina bifida occulta Hemivertebrae Hypogonadotrophic hypogonadism Muscle stiffness Short ribs Hyperpigmentation of the skin Exotropia Hemiparesis Abnormality of the ribs Cerebral calcification Postaxial polydactyly Inflammation of the large intestine Polydactyly Epicanthus Dysarthria Microphthalmia Visual loss Epiphyseal stippling Glaucoma Polycystic kidney dysplasia Iris coloboma Flat face High forehead Telecanthus Sparse hair Coloboma Hypotrichosis Melanocytic nevus Disproportionate tall stature Palmar pits Fibroma Astrocytoma Medulloblastoma Ectopic calcification Supernumerary ribs Cervical ribs Hamartomatous polyposis Abnormality of the sense of smell Ulcerative colitis Vertebral wedging Mitral valve prolapse Ovarian carcinoma Multiple impacted teeth Severe hydrocephalus Short distal phalanx of the thumb Brain neoplasm Broad face Milia Thoracic scoliosis Basal cell carcinoma Long fingers Agenesis of permanent teeth Vertebral fusion Colitis Abnormality of the sternum Sprengel anomaly Neoplasm of the endocrine system Narrow nose Fragile nails Down-sloping shoulders Skin tags Short 4th metacarpal Abnormality of the neck Abnormality of the cardiovascular system Subcutaneous nodule Nephrotic syndrome Tubulointerstitial fibrosis Corneal crystals Retinal vascular tortuosity Vascular skin abnormality Decreased female libido Abnormality of cardiovascular system physiology Abnormal endocardium morphology Primary hypothyroidism Microalbuminuria Conjunctival telangiectasia Supraventricular arrhythmia Dysesthesia Abnormal cornea morphology Abnormality of the renal tubule Abnormal thrombosis Chronic pain Abnormality of temperature regulation High-frequency hearing impairment Myocardial fibrosis Chronic fatigue Abnormality of femur morphology Abnormality of the nose Restrictive cardiomyopathy Abnormal myocardium morphology Asymmetric septal hypertrophy Abnormal renal physiology Abnormal mitral valve morphology Periorbital fullness Gastrointestinal dysmotility Abnormal aortic valve morphology T-wave inversion Miosis Limb pain Nephrogenic diabetes insipidus Chronic obstructive pulmonary disease Heavy proteinuria Abnormality of glycosphingolipid metabolism Abnormality of the forehead Hyperkeratotic papule Tortuosity of conjunctival vessels Left ventricular septal hypertrophy Tenesmus Acroparesthesia Functional abnormality of the gastrointestinal tract Abnormal common carotid artery morphology Abnormal ST segment Increased carotid artery intimal medial thickness Increased glomerular filtration rate Abnormality of the common coagulation pathway Abnormal glomerular filtration rate Impaired renal concentrating ability ST segment depression Decreased glomerular filtration rate Impaired temperature sensation Vascular tortuosity Distal renal tubular acidosis Increased blood urea nitrogen Reduced sperm motility Angiokeratoma Obstructive lung disease Hyposthenuria Unexplained fevers Shortened QT interval Angiokeratoma corporis diffusum Decreased lacrimation Coronary artery stenosis Concentric hypertrophic cardiomyopathy Mucosal telangiectasiae Achalasia Angina pectoris Ventricular hypertrophy Abnormal intestine morphology Clubbing Personality changes Polydipsia Glomerulosclerosis Hemiplegia Abnormality of the hand Prominent supraorbital ridges Chronic kidney disease Easy fatigability Tinnitus Reduced bone mineral density Ischemic stroke Corneal dystrophy Progressive hearing impairment Aortic regurgitation Tricuspid regurgitation Left ventricular hypertrophy Thick lower lip vermilion Atrial fibrillation Myocardial infarction Palpitations Mitral regurgitation Abnormal lung morphology Anorexia Hyperlipidemia Hypohidrosis Lymphedema Fasciculations Spontaneous abortion Aminoaciduria Purpura Impaired vibratory sensation Diabetes insipidus Clubbing of fingers Tubular atrophy Xerostomia Transient ischemic attack Renal tubular dysfunction Edema of the lower limbs Tubulointerstitial nephritis Elevated serum creatinine Abnormality of the gastrointestinal tract Abnormality of lipid metabolism Oligospermia Large earlobe Supraventricular tachycardia Heat intolerance Reduced ejection fraction Peripheral arterial stenosis Abnormal EKG Wheezing Polyuria Interstitial pulmonary abnormality Anhidrosis Loss of consciousness Bundle branch block Impotence Coronary artery atherosclerosis Elevated erythrocyte sedimentation rate Progressive sensorineural hearing impairment Renal tubular acidosis Orthostatic hypotension Celiac disease Telangiectasia of the skin Glomerulopathy Abnormal heart valve morphology Glycosuria Generalized neonatal hypotonia Abnormality of the optic nerve Ataxia Internally nucleated skeletal muscle fibers Pulmonary insufficiency Narrow naris Arterial tortuosity Intussusception Multiple joint dislocation Prominence of the premaxilla Type 1 and type 2 muscle fiber minicore regions Abnormal muscle morphology Sternocleidomastoid amyotrophy Frog-leg posture Tibialis atrophy Rectus femoris muscle atrophy Muscle fiber hypertrophy Type 1 muscle fiber atrophy Abnormality of the vasculature Minicore myopathy Functional respiratory abnormality Generalized limb muscle atrophy Muscle fiber necrosis Increased nuchal translucency 3-Methylglutaconic aciduria Axial muscle weakness Increased connective tissue Exercise-induced myalgia Type 1 muscle fiber predominance Shoulder girdle muscle weakness Nemaline bodies Fetal akinesia sequence Facial diplegia Arterial stenosis Immunodeficiency Severe postnatal growth retardation Tetralogy of Fallot Ventricular fibrillation Obsessive-compulsive behavior Patent foramen ovale Optic nerve hypoplasia Cutaneous syndactyly Recurrent fractures Abnormality of dental enamel Hypocalcemia Cardiac arrest Sinusitis Hypoplasia of dental enamel Abnormality of the face Pulmonary arterial hypertension Microdontia Soft skin Esotropia Overgrowth Hypoplasia of the maxilla Coma Toe syndactyly Oligohydramnios Hip dislocation Thin upper lip vermilion Narrow palpebral fissure Autism Cutis laxa Abnormal heart morphology Aortic aneurysm Patent ductus arteriosus Bell-shaped thorax Distal arthrogryposis Multiple joint contractures Limb joint contracture Kyphosis Cerebellar atrophy Hypertonia Skeletal muscle atrophy Babinski sign Myoclonus Macrotia Muscle weakness Rigidity Uplifted earlobe Hypoplasia of the frontal lobes Multifocal seizures Myoclonic spasms Mild microcephaly Recurrent respiratory infections Muscle fibrillation Dysphasia Global brain atrophy Abnormality of mitochondrial metabolism Dry skin Clonus Progressive microcephaly Cerebral visual impairment Status epilepticus Thin vermilion border Neuronal loss in central nervous system Epileptic encephalopathy Generalized myoclonic seizures Delayed myelination Visual impairment Respiratory failure Difficulty running Decreased fetal movement Centrally nucleated skeletal muscle fibers Cystic hygroma Myopathic facies Increased variability in muscle fiber diameter Bilateral cryptorchidism Mask-like facies Congenital muscular dystrophy Akinesia Pterygium Tented upper lip vermilion Scrotal hypoplasia External ophthalmoplegia Narrow face Hydrops fetalis Aciduria Micropenis Webbed neck Generalized muscle weakness Single transverse palmar crease Pulmonary hypoplasia Ophthalmoplegia Arthrogryposis multiplex congenita Dolichocephaly Muscular dystrophy Pulmonary artery aneurysm Respiratory tract infection Generalized arterial tortuosity Proximal muscle weakness Neonatal hypotonia Pulmonary artery dilatation 2-3 toe syndactyly Prolonged QT interval Delayed peripheral myelination Intestinal malrotation Hemangioma Sacral dimple Narrow palate Elbow flexion contracture Short toe Decreased body weight Heterotopia Hypertrichosis Interphalangeal joint contracture of finger Intellectual disability, profound High myopia Dandy-Walker malformation Wide intermamillary distance Limitation of joint mobility CNS hypomyelination Vesicoureteral reflux Full cheeks Tapered finger Everted lower lip vermilion Hirsutism Long face Talipes Synophrys Narrow chest Platyspondyly Severe global developmental delay Camptodactyly of finger Retinopathy Camptodactyly Sleep apnea Elbow dislocation Cerebral cortical atrophy Brain atrophy Hyperechogenic pancreas Facial capillary hemangioma Nevus flammeus of the forehead Mesomelic/rhizomelic limb shortening Facial hemangioma Ulnar deviation of the wrist Accessory oral frenulum Atrophy of the spinal cord Deep plantar creases Broad alveolar ridges Abnormal anterior chamber morphology Thick hair Deep palmar crease Abnormality of the pancreas Capillary hemangioma Nephroblastoma Thoracolumbar scoliosis Severe failure to thrive Severe intrauterine growth retardation Nevus flammeus Underdeveloped supraorbital ridges Prominent metopic ridge Ulnar deviation of finger Dislocated radial head Biparietal narrowing Broad palm Short thorax Supernumerary nipple Overlapping toe Hypoplasia of the brainstem Ascites Macroglossia Mixed hearing impairment Anteverted nares Plagiocephaly Epidermal acanthosis Bilateral sensorineural hearing impairment Febrile seizures Dental malocclusion Hypopigmentation of the skin Neonatal hypoglycemia Enlarged kidney Short palm Craniosynostosis Myoglobinuria Pulmonary edema Malar flattening Abnormality of the pinna Hypopigmented skin patches Scarring Abnormal direction of ventricular apex Atrioventricular dissociation T-wave alternans Abnormality of dental color Frontal balding Cutaneous syndactyly of toes Torsade de pointes Perimembranous ventricular septal defect Hypothermia Amelogenesis imperfecta Protruding tongue Cutaneous finger syndactyly Bronchitis Acanthosis nigricans Increased intracranial pressure Agenesis of corpus callosum Abnormality of the head Intellectual disability, severe Atrial septal defect Intrauterine growth retardation Thimble-shaped middle phalanges of hand Low-frequency sensorineural hearing impairment Unicoronal synostosis Short middle phalanx of toe Bicoronal synostosis Capitate-hamate fusion Synostosis of carpals/tarsals Hemimegalencephaly Craniofacial asymmetry Parietal foramina Lambdoidal craniosynostosis Anterior plagiocephaly Cone-shaped epiphysis Oxycephaly Aqueductal stenosis Upper airway obstruction Cone-shaped epiphyses of the phalanges of the hand Coronal craniosynostosis Carpal synostosis Esophageal atresia Hypopigmentation of hair Tarsal synostosis Hypermelanotic macule Broad hallux Short middle phalanx of finger Tracheoesophageal fistula Radial deviation of finger Cornea verticillata



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