Cardiomyopathy, and Arachnodactyly

Diseases related with Cardiomyopathy and Arachnodactyly

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


Top matches:

Medium match DILATED CARDIOMYOPATHY-HYPERGONADOTROPIC HYPOGONADISM SYNDROME


This syndrome is characterized by the association of dilated cardiomyopathy and hypergonadotropic hypogonadism (DCM-HH).

DILATED CARDIOMYOPATHY-HYPERGONADOTROPIC HYPOGONADISM SYNDROME Is also known as cardiomyopathy, dilated, with premature ovarian failure|genital anomaly with cardiomyopathy|najjar syndrome|cardiomyopathy, congestive, with hypergonadotropic hypogonadism|cardiogenital syndrome|cardiomyopathy with primary testicular failure|malouf syndro

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Cryptorchidism
  • Ptosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about DILATED CARDIOMYOPATHY-HYPERGONADOTROPIC HYPOGONADISM SYNDROME

Medium match ARTERIAL TORTUOSITY SYNDROME


Arterial tortuosity syndrome (ATS) is a rare connective tissue disorder characterized by tortuosity and elongation of the large and medium-sized arteries and a propensity towards aneurysm formation, vascular dissection, and stenosis of the pulmonary arteries.

ARTERIAL TORTUOSITY SYNDROME Is also known as ats

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Scoliosis
  • Hypertelorism
  • Strabismus


SOURCES: ORPHANET MENDELIAN

More info about ARTERIAL TORTUOSITY SYNDROME

Medium match COHEN SYNDROME; COH1


Cohen syndrome is an autosomal recessive multisystem disorder characterized by many clinical features, including facial dysmorphism, microcephaly, truncal obesity, intellectual disability, progressive retinopathy, and intermittent congenital neutropenia (summary by Duplomb et al., 2014).

COHEN SYNDROME; COH1 Is also known as chs1, formerly|pepper syndrome|coh|hypotonia, obesity, and prominent incisors

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about COHEN SYNDROME; COH1

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Other less relevant matches:

Medium match AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY


Autosomal recessive centronuclear myopathy (AR-CNM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy.

AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY Is also known as myopathy, centronuclear, autosomal recessive|myotubular myopathy, autosomal recessive|ar-cnm

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY

Medium match 8P23.1 MICRODELETION SYNDROME


8p23.1 deletion involves a partial deletion of the short arm of chromosome 8 characterized by low birth weight, postnatal growth deficiency, mild intellectual deficit, hyperactivity, craniofacial abnormalities, and congenital heart defects.

8P23.1 MICRODELETION SYNDROME Is also known as del(8)(p23.1)|monosomy 8p23.1

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay


SOURCES: ORPHANET MESH MENDELIAN

More info about 8P23.1 MICRODELETION SYNDROME

Medium match ACROMEGALY


Acromegaly is an acquired disorder related to excessive production of growth hormone (GH) and characterized by progressive somatic disfigurement (mainly involving the face and extremities) and systemic manifestations.

Related symptoms:

  • Neoplasm
  • Hypertension
  • Fatigue
  • Frontal bossing
  • Abnormality of the dentition


SOURCES: ORPHANET MENDELIAN

More info about ACROMEGALY

Medium match CARNITINE PALMITOYL TRANSFERASE II DEFICIENCY, NEONATAL FORM


The neonatal form of carnitine palmitoyltransferase II (CPT II) deficiency (see this term), an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the lethal form of the disease which presents with multisystem failure.

CARNITINE PALMITOYL TRANSFERASE II DEFICIENCY, NEONATAL FORM Is also known as carnitine palmitoyl transferase deficiency type 2, lethal systemic form|carnitine palmitoyltransferase ii deficiency, neonatal|cpt2 deficiency, lethal neonatal|carnitine palmitoyl transferase ii deficiency, lethal systemic form|carnitine palmitoyltransfer

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Muscular hypotonia
  • Cataract


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CARNITINE PALMITOYL TRANSFERASE II DEFICIENCY, NEONATAL FORM

Low match COFFIN-LOWRY SYNDROME


Coffin-Lowry syndrome (CLS) is a rare genetic neurological disorder characterized by psychomotor and growth retardation, facial dysmorphism, digit abnormalities, and progressive skeletal changes.

COFFIN-LOWRY SYNDROME Is also known as cls

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about COFFIN-LOWRY SYNDROME

Low match YUNIS-VARON SYNDROME


Yunis-Varon syndrome is a severe autosomal recessive disorder characterized by skeletal defects, including cleidocranial dysplasia and digital anomalies, and severe neurologic involvement with neuronal loss. Enlarged cytoplasmic vacuoles are found in neurons, muscle, and cartilage. The disorder is usually lethal in infancy (summary by Campeau et al., 2013).

YUNIS-VARON SYNDROME Is also known as cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia|cleidocranial dysplasia-micrognathia-absent thumbs syndrome

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about YUNIS-VARON SYNDROME

Low match CORNELIA DE LANGE SYNDROME 1; CDLS1


The Cornelia de Lange syndrome (CDLS) is a multisystem malformation syndrome recognized primarily on the basis of characteristic facial dysmorphism, including low anterior hairline, arched eyebrows, synophrys, anteverted nares, maxillary prognathism, long philtrum, thin lips, and 'carp' mouth, in association with prenatal and postnatal growth retardation, mental retardation and, in many cases, upper limb anomalies. However, there is wide clinical variability in this disorder, with milder phenotypes that may be difficult to ascertain on the basis of physical features (summary by Rohatgi et al., 2010).Boyle et al. (2015) provided a detailed review of CDLS, including clinical features, diagnosis, and genetic counseling. Genetic Heterogeneity of Cornelia de Lange SyndromeAbout 50 to 60% of the cases of CDLS are due to mutation in the NIPBL gene (Musio et al., 2006; Rohatgi et al., 2010).One X-linked form of CDLS (CDLS2 ) is caused by mutation in the SMC1A gene (OMIM ), which accounts for about 5% of cases. Two milder variants of Cornelia de Lange syndrome have been identified: CDLS3 (OMIM ), caused by mutation in the SMC3 gene (OMIM ), and CDLS4 (OMIM ), caused by mutation in the RAD21 gene (OMIM ). All 4 genes, NIPBL, SMC1A, SMC3, and RAD21, encode components of the cohesin complex. Another X-linked form, CDLS5 (OMIM ), is caused by mutation in the HDAC8 gene (OMIM ), the vertebrate histone deacetylase of SMC3.

CORNELIA DE LANGE SYNDROME 1; CDLS1 Is also known as typus degenerativus amstelodamensis|brachmann-de lange syndrome|cdl|de lange syndrome|cdls|bdls

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CORNELIA DE LANGE SYNDROME 1; CDLS1

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Arachnodactyly

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Tapered finger Common - Between 50% and 80% cases
High palate 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 Cardiomyopathy and Arachnodactyly. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Short stature

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia

Common Symptoms - More than 50% cases


Microcephaly

Uncommon Symptoms - Between 30% and 50% cases


Hypertelorism Strabismus Muscular hypotonia Macrocephaly Macrotia Hypertrophic cardiomyopathy Seizures Growth delay Abnormal facial shape Congestive heart failure Cryptorchidism Abnormality of the skeletal system Cataract Low-set ears Micrognathia Depressed nasal bridge Intrauterine growth retardation Hearing impairment Mandibular prognathia Feeding difficulties in infancy Protruding ear Respiratory distress Hypertension Single transverse palmar crease Feeding difficulties Kyphosis Dilated cardiomyopathy Intellectual disability, mild Ptosis Retrognathia Abnormality of digit Full cheeks Thin vermilion border Myopia Mitral regurgitation Fatigue Postnatal growth retardation Inguinal hernia Clinodactyly of the 5th finger Prominent nasal bridge Cardiomegaly Severe global developmental delay Gastroesophageal reflux High forehead Hip dislocation Joint hyperflexibility Long face Synophrys Thick eyebrow Hiatus hernia High, narrow palate Wide nasal bridge Pyloric stenosis Wide nose Highly arched eyebrow Ventriculomegaly Sensorineural hearing impairment Optic atrophy Narrow mouth Widely spaced teeth Ventricular septal defect Neonatal hypotonia Pes planus Anteverted nares Hydrocephalus Behavioral abnormality Flexion contracture Failure to thrive Thin upper lip vermilion Abnormality of dental morphology Hypospadias Downslanted palpebral fissures

Rare Symptoms - Less than 30% cases


Cerebellar hypoplasia Sleep apnea Joint hypermobility Thick vermilion border Arrhythmia Coarse facial features Pectus excavatum Small for gestational age Astigmatism Diabetes mellitus Micropenis Neurological speech impairment Kyphoscoliosis Short philtrum Thick lower lip vermilion Wide mouth Respiratory tract infection Small hand Elbow flexion contracture Neoplasm Hyperhidrosis Abnormality of the pinna Short neck Epicanthus Weak cry Atrial septal defect Syndactyly Abnormal heart morphology Proptosis Hypoplastic labia majora Upslanted palpebral fissure Toe syndactyly Hyperlordosis Short middle phalanx of finger Abnormality of the urinary system Respiratory insufficiency Muscle weakness Cognitive impairment Delayed speech and language development Cerebral hemorrhage Short metatarsal Microcornea Open mouth Hypoplasia of the maxilla Short metacarpal Abnormality of the dentition Frontal bossing Aciduria Otitis media Hernia High myopia Tall stature Abnormal cardiac septum morphology Long eyelashes Premature loss of primary teeth Abnormality of retinal pigmentation Proximal placement of thumb Low anterior hairline Congenital diaphragmatic hernia Tetralogy of Fallot Wide intermamillary distance Obesity Short chin Thrombocytopenia Short nose Cerebellar vermis hypoplasia Rocker bottom foot Redundant skin Hypodontia Coxa valga Delayed eruption of teeth Hepatomegaly Telecanthus Craniosynostosis Dyspnea Respiratory failure Dilatation Malar flattening Narrow palate Esophagitis Spontaneous abortion Delayed skeletal maturation Agenesis of corpus callosum Hypertonia Prominent forehead Intellectual disability, severe Hypoglycemia Hypoplasia of the corpus callosum Short clavicles Thoracic scoliosis Tricuspid regurgitation Tapered toe Bilateral ptosis Precocious puberty Pulmonary artery stenosis Talipes equinovarus Delayed puberty Self-injurious behavior Microtia Motor delay Convex nasal ridge Spinal canal stenosis Nystagmus Cutis marmorata Edema Large hands Microphthalmia Skeletal muscle atrophy Hydrops fetalis Bifid sternum Long-chain dicarboxylic aciduria Peripheral neuropathy Brachydactyly Intracerebral periventricular calcifications Gait disturbance Drumstick terminal phalanges Abnormality of the nasal alae Thick nasal septum Uterine prolapse Irritability Lumbar kyphosis Retinoschisis Progressive spasticity Pseudoepiphyses of the metacarpals Decreased plasma free carnitine Emphysema Hepatic calcification Stooped posture Polyhydramnios Elevated serum long-chain fatty acids Antenatal intracerebral hemorrhage Pulmonary arterial hypertension Short phalanx of finger Large fontanelles Sparse and thin eyebrow Decreased plasma total carnitine Pachygyria Sparse scalp hair Short toe Small nail Neuronal loss in central nervous system Short thumb Dandy-Walker malformation Premature birth Hypopigmentation of the skin Broad hallux Hypotrichosis Dolichocephaly Sparse hair Biventricular hypertrophy Aplasia/Hypoplasia of the corpus callosum Cerebral cortical atrophy Dicarboxylic aciduria Psychosis Mental deterioration Pectus carinatum Short distal phalanx of finger Everted lower lip vermilion Severe sensorineural hearing impairment Aplasia/Hypoplasia of the cerebellum Tetraplegia Craniofacial hyperostosis Dental malocclusion Prominent supraorbital ridges Soft skin Abnormal aortic valve morphology Abnormal form of the vertebral bodies Decreased body weight Coarse hair Wide anterior fontanel Abnormality of the hair Schizophrenia Abnormal mitral valve morphology Restrictive cardiomyopathy Cutis laxa Hypoplastic fingernail Delayed closure of the anterior fontanelle Myelopathy Cataplexy Nonketotic hypoglycemia Acrocyanosis Hyperconvex fingernails Increased total bilirubin Abnormal tricuspid valve morphology Basal ganglia cysts Elevated long chain fatty acids Broad finger Narrow iliac wings Broad palm Increased muscle lipid content Thickened calvaria Advanced eruption of teeth Abnormality of nervous system morphology Thick nasal alae Abnormality of neuronal migration Loss of consciousness Long toe Macrovesicular hepatic steatosis Atonic seizures Rectal prolapse Hyperextensibility of the finger joints Anteriorly placed anus Abnormal diaphysis morphology Aplasia of the 1st metacarpal Short ribs Hypertrichosis Vesicoureteral reflux Webbed neck Microdontia Blue sclerae Renal hypoplasia Low posterior hairline Choanal atresia Triangular face Recurrent urinary tract infections Aspiration Increased body weight Torticollis Relative macrocephaly Hypoplasia of the radius Incoordination Sepsis Renal cyst Clubbing Pallor Glaucoma Autism Conductive hearing impairment Proteinuria Aggressive behavior Camptodactyly Autistic behavior Sleep disturbance Pulmonic stenosis Micromelia Vertigo Cleft upper lip Pulmonary hypoplasia Hirsutism Downturned corners of mouth Deep philtrum 2-3 toe syndactyly Brachycephaly Hypertropia Supernumerary ribs Gastroparesis Absent hand Curly eyelashes Hypoplastic male external genitalia Esophageal stenosis Left-to-right shunt Hand oligodactyly Projectile vomiting Duplication of internal organs Malrotation of colon Otitis media with effusion Reduced renal corticomedullary differentiation Abnormality of the umbilicus Hypoplastic radial head Phocomelia Perimembranous ventricular septal defect Ectopic kidney Poor appetite Opisthotonus Limited elbow extension Dislocated radial head Hypoplastic nipples Oligodactyly Ectrodactyly Aspiration pneumonia Short sternum Abnormality of the gastrointestinal tract Optic nerve coloboma Thick upper lip vermilion Recurrent hypoglycemia Volvulus Panhypopituitarism Peters anomaly Hyperactivity Severe short stature Sparse eyelashes Absent nipple Abnormality of finger Hypoplastic scapulae Decreased skull ossification Abnormality of the neck Redundant neck skin Aplasia/Hypoplasia of the nipples Bilateral microphthalmos Severe failure to thrive Small earlobe Aplastic clavicle Congenital microcephaly Arrhinencephaly Wide cranial sutures Increased nuchal translucency Short upper lip Sclerocornea Glossoptosis Aplasia/Hypoplasia of the middle phalanges of the hand Flared metaphysis Tented upper lip vermilion Abnormality of pelvic girdle bone morphology Sparse eyebrow Clitoral hypertrophy Absent eyebrow Metatarsus adductus Anonychia Inverted nipples Aplasia/Hypoplasia of the eyebrow Short finger Absent thumb Severe hearing impairment Thin ribs Abnormality of blood and blood-forming tissues Aplasia/Hypoplasia of the thumb Generalized neonatal hypotonia Multiple skeletal anomalies Pneumonia Aplasia/hypoplasia of the 1st metatarsal Abnormality of the occipital bone Abnormality of dental structure Aplasia/Hypoplasia of the scapulae Narrow nasal base Aplasia/Hypoplasia of the proximal phalanx of the hallux Aplasia of the distal phalanges of the hand Aplasia of the distal phalanx of the hallux Abnormal pelvis bone morphology Cleft palate Anemia Fever Vomiting Long philtrum Headache Clinodactyly Abnormal parietal bone morphology Short proximal phalanx of hallux Hypoplasia of the frontal lobes Gingival recession Renovascular hypertension Renal artery stenosis Aplasia/Hypoplasia of the distal phalanges of the hand Aplasia/Hypoplasia of the nails Hypoplastic facial bones Aplasia/Hypoplasia of the clavicles Abnormality of the scapula Shortening of all distal phalanges of the toes Generalized hypotrichosis Broad secondary alveolar ridge Absent sternal ossification Bilateral external ear deformity Aplasia/Hypoplasia of the hallux Slender long bones with narrow diaphyses Cystic renal dysplasia Ureteral duplication Arthralgia Hypoketotic hypoglycemia Prominent nose Sandal gap Intellectual disability, progressive Preauricular skin tag Progressive microcephaly Gingival overgrowth Exotropia Clumsiness Lumbar hyperlordosis Decreased fetal movement Mitral valve prolapse Narrow forehead Pigmentary retinopathy Progressive visual loss Growth hormone deficiency Neutropenia Venous thrombosis Retinal detachment Retinal dystrophy Iris coloboma Abnormality of skin pigmentation Retinal degeneration Smooth philtrum Genu valgum Finger syndactyly Stroke Nyctalopia Retinopathy Paralysis Intellectual disability, moderate Joint laxity Leukopenia Recurrent skin infections Hypothyroidism Gingivitis Iris atrophy Thick hair Tapetoretinal degeneration Recurrent aphthous stomatitis Aplasia/Hypoplasia of the earlobes Abnormality of the larynx Bone spicule pigmentation of the retina Macular edema Furrowed tongue Deep venous thrombosis Misalignment of teeth Facial hypotonia Vocal cord paralysis Microglossia Posterior subcapsular cataract Laryngomalacia Peripheral visual field loss Subcapsular cataract Celiac disease Narrow nasal bridge Abnormality of the hip bone Truncal obesity Disproportionate tall stature Constriction of peripheral visual field Cubitus valgus Rheumatoid arthritis Failure to thrive in infancy Intracranial hemorrhage Radioulnar synostosis Reduced number of teeth Arthritis Reduced visual acuity Bull's eye maculopathy Bilateral cryptorchidism Primary testicular failure Sclerodactyly Testicular dysgenesis Wide nasal base Poor wound healing Elevated circulating luteinizing hormone level Abnormality of the ovary Elevated circulating follicle stimulating hormone level Sparse pubic hair Abnormality of the testis Poikiloderma Down-sloping shoulders Secondary amenorrhea Scleroderma Premature ovarian insufficiency Myofiber disarray Lipodystrophy Polycystic ovaries Ventricular tachycardia Hypergonadotropic hypogonadism Increased bone mineral density Telangiectasia Abnormality of the genital system Atrial fibrillation Amenorrhea Abnormality of the skin Tachycardia Osteopenia Hypogonadism Osteoporosis Puberty and gonadal disorders Thyroid hemiagenesis Rod-cone dystrophy Aortic dissection Visual loss Recurrent infections Blindness Visual impairment Abnormality of the zygomatic bone Abnormal carotid artery morphology Keratoglobus Long palm Median cleft lip and palate Femoral hernia Arterial stenosis Avascular necrosis of the capital femoral epiphysis Abnormal myocardium morphology Myocarditis Cardiorespiratory arrest Aplasia of the phalanges of the 3rd toe Aortic root aneurysm Prematurely aged appearance Keratoconus Telangiectasia of the skin Aortic aneurysm Hyperextensible skin Coxa vara Cardiac arrest Thin skin Myocardial infarction Short palpebral fissure Specific learning disability Hip dysplasia Blepharophimosis Macrodontia Granulocytopenia Hypothermia Growth hormone excess Pituitary prolactin cell adenoma Deep plantar creases Galactorrhea Hypersomnia Paraganglioma Long penis Pheochromocytoma Anterior hypopituitarism Deep palmar crease Neoplasm of the endocrine system Dysuria Abnormality of the endocrine system Abnormal toenail morphology Broad foot Joint swelling Macrodactyly Palpebral edema Generalized hyperpigmentation Impotence Acne Growth abnormality Cerebral palsy Acanthosis nigricans Abnormality of the fingernails Generalized hirsutism Hoarse voice Thickened skin Osteoarthritis Migraine Macroglossia Dysmenorrhea Broad jaw Broad forehead Metabolic acidosis Heart block Enlarged kidney Hyperkalemia Hypoplastic toenails Overfolded helix Polycystic kidney dysplasia Ventricular arrhythmia Hyperammonemia Knee flexion contracture Multicystic kidney dysplasia Renal dysplasia Oligohydramnios Sloping forehead Coma Hepatic steatosis Abnormality of reproductive system physiology Bulbous nose Polymicrogyria Hepatic failure Abnormality of the foot Lethargy Apnea Hydronephrosis Elevated hepatic transaminase Acidosis Posteriorly rotated ears Elevated serum creatine phosphokinase Renal insufficiency Hyperreflexia Cortical diaphyseal thickening of the upper limbs Paresthesia Anxiety Congenital neutropenia Slender toe Progressive muscle weakness Left ventricular hypertrophy Waddling gait Bifid uvula Generalized muscle weakness Ophthalmoplegia Distal muscle weakness Facial palsy Proximal muscle weakness Difficulty walking Pes cavus Areflexia Myopathy Dysarthria Cat cry Respiratory insufficiency due to muscle weakness Hypoplastic philtrum Childhood-onset truncal obesity Macrodontia of permanent maxillary central incisor Prominent eyelashes Thick corpus callosum High-pitched cry Chorioretinal dysplasia Narrow philtrum Narrow palm Hemeralopia Cutis gyrata of scalp Chorioretinal dystrophy Laryngeal stenosis Hyperplasia of the maxilla Scapular winging External ophthalmoplegia Depressivity Abnormality of cardiovascular system morphology Enlarged thorax Abnormal aortic morphology Broad hallux phalanx External ear malformation Biparietal narrowing Transposition of the great arteries Atrioventricular canal defect Hypoplastic left heart Broad thumb Poor speech Attention deficit hyperactivity disorder Deeply set eye Weight loss Patent ductus arteriosus EMG: decremental response of compound muscle action potential to repetitive nerve stimulation EMG: myopathic abnormalities Long fingers Dysphonia Congenital contracture Gowers sign Ophthalmoparesis Generalized amyotrophy Difficulty climbing stairs Exertional dyspnea Axial muscle weakness Abnormal heart valve morphology Centrally nucleated skeletal muscle fibers Hip contracture Difficulty running Facial diplegia Type 1 muscle fiber predominance Dysplastic tricuspid valve



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