Cardiomyopathy, and Short phalanx of finger

Diseases related with Cardiomyopathy and Short phalanx of finger

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


Top matches:

Low match MOYAMOYA ANGIOPATHY-SHORT STATURE-FACIAL DYSMORPHISM-HYPERGONADOTROPIC HYPOGONADISM SYNDROME


Moyamoya angiopathy - short stature - facial dysmorphism - hypergonadotropic hypogonadism is a very rare, hereditary, neurological, dysmorphic syndrome characterized by moyamoya disease, short stature of postnatal onset, and stereotyped facial dysmorphism.

MOYAMOYA ANGIOPATHY-SHORT STATURE-FACIAL DYSMORPHISM-HYPERGONADOTROPIC HYPOGONADISM SYNDROME Is also known as syndromic moyamoya disease|moyamoya disease-short stature-facial dysmorphism-hypergonadotropic hypogonadism|chromosome xq28 deletion syndrome, 3.4-kb

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about MOYAMOYA ANGIOPATHY-SHORT STATURE-FACIAL DYSMORPHISM-HYPERGONADOTROPIC HYPOGONADISM SYNDROME

Low 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

Low match HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, CANTU TYPE


Cantu syndrome is a rare disorder characterized by congenital hypertrichosis, osteochondrodysplasia, cardiomegaly, and dysmorphism.

HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, CANTU TYPE Is also known as hypertrichotic osteochondrodysplasia

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, CANTU TYPE

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Other less relevant matches:

Low match ZIMMERMANN-LABAND SYNDROME


Zimmermann-Laband syndrome (ZLS) is a rare disorder characterized by gingival fibromatosis, coarse facial appearance, and absence or hypoplasia of nails or terminal phalanges of hands and feet.

ZIMMERMANN-LABAND SYNDROME Is also known as laband syndrome|gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome|fibromatosis, gingival, with abnormal fingers, fingernails, nose, and ears, and splenomegaly

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ZIMMERMANN-LABAND SYNDROME

Low match CATARACT-INTELLECTUAL DISABILITY-HYPOGONADISM SYNDROME


This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.

CATARACT-INTELLECTUAL DISABILITY-HYPOGONADISM SYNDROME Is also known as martsolf syndrome|cataract-mental retardation-hypogonadism

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CATARACT-INTELLECTUAL DISABILITY-HYPOGONADISM SYNDROME

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 HEART-HAND SYNDROME, SLOVENIAN TYPE


Heart-hand syndrome of Slovenian type is a rare autosomal dominant form of heart-hand syndrome (see this term), first described in members of a Slovenian family, that is characterized by adult onset, progressive cardiac conduction disease, tachyarrhythmias that can lead to sudden death, dilated cardiomyopathy and brachydactyly, with the hands less severely affected than the feet. Muscle weakness and/or myopathic electromyographic findings have been observed in some cases.

HEART-HAND SYNDROME, SLOVENIAN TYPE Is also known as atriodigital dysplasia, slovenian type|cardiac conduction disease-dilated cardiomyopathy-brachydactyly syndrome

Related symptoms:

  • Muscle weakness
  • Flexion contracture
  • Brachydactyly
  • Cardiomyopathy
  • Myopathy


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about HEART-HAND SYNDROME, SLOVENIAN TYPE

Low match SIMPSON-GOLABI-BEHMEL SYNDROME


Simpson-Golabi-Behmel syndrome (SGBS, also referred to as SGBS type 1) is a rare X-linked multiple congenital anomalies syndrome, characterized by pre- and postnatal overgrowth, distinctive craniofacial features, variable congenital malformations, organomegaly and an increased tumor risk.

SIMPSON-GOLABI-BEHMEL SYNDROME Is also known as sgbs|sgbs1|simpson-golabi-behmel syndrome type 1|golabi-rosen syndrome|sdys|x-linked dysplasia gigantism syndrome|dysplasia gigantism syndrome, x-linked|simpson dysmorphia syndrome|dgsx|bulldog syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about SIMPSON-GOLABI-BEHMEL 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 Short phalanx of finger

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Abnormality of the skeletal system Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Cardiomyopathy and Short phalanx of finger. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Hypertelorism

Uncommon Symptoms - Between 30% and 50% cases


Cataract

Common Symptoms - More than 50% cases


Hypertension

Uncommon Symptoms - Between 30% and 50% cases


Short stature

Common Symptoms - More than 50% cases


Macrocephaly

Uncommon Symptoms - Between 30% and 50% cases


Scoliosis

Common Symptoms - More than 50% cases


Depressed nasal bridge

Uncommon Symptoms - Between 30% and 50% cases


Anteverted nares Syndactyly Hearing impairment Micrognathia High palate Seizures Intellectual disability, severe Low-set ears High, narrow palate Growth delay Short distal phalanx of finger Thick vermilion border Thin vermilion border Wide mouth Toe syndactyly Coarse facial features Congestive heart failure Long philtrum Microcephaly Wide nasal bridge Brachydactyly Epicanthus Downslanted palpebral fissures Mandibular prognathia Strabismus Abnormality of digit Thick eyebrow Wide nose Dilated cardiomyopathy Muscular hypotonia Hydrocephalus Cryptorchidism Patent ductus arteriosus Delayed skeletal maturation Umbilical hernia Postnatal growth retardation Hypertrophic cardiomyopathy Abnormal heart morphology Hypospadias Ventricular septal defect Atrial septal defect Optic atrophy Low posterior hairline Sensorineural hearing impairment Small nail Delayed eruption of teeth Congenital cataract Protruding ear Macrotia Polyhydramnios Hernia Hepatomegaly Severe global developmental delay Thick lower lip vermilion Talipes equinovarus Ventriculomegaly Pectus excavatum Large for gestational age Pyloric stenosis Accelerated skeletal maturation Cerebellar vermis hypoplasia Hypertrichosis Proptosis Short neck Short metacarpal Single transverse palmar crease Inguinal hernia Broad nasal tip Cleft palate Cardiac arrest Hypoplasia of the maxilla Short toe Short palm Tapered finger Clinodactyly Arrhythmia Small hand Thin upper lip vermilion Retrognathia Clinodactyly of the 5th finger

Rare Symptoms - Less than 30% cases


Generalized hypertrichosis Thin ribs Hypoplasia of the corpus callosum Thickened calvaria Abnormality of the urinary system Cognitive impairment Neoplasm Cerebral cortical atrophy Brachycephaly Thick upper lip vermilion Premature loss of primary teeth Malar flattening Hypertonia Broad ribs Severe short stature Microphthalmia Webbed neck Broad finger Congenital diaphragmatic hernia Curly eyelashes Prolonged QT interval Posteriorly rotated ears Myopia Furrowed tongue Ptosis Hyperextensibility of the finger joints Self-injurious behavior Abnormality of dental morphology Widely spaced teeth Pulmonic stenosis Cutis marmorata Renal cyst Hypogonadism Anonychia Hypoglycemia Intellectual disability, progressive Broad palm Flexion contracture Splenomegaly Overgrowth Macroglossia Growth hormone deficiency Hirsutism Joint hypermobility Synophrys Hypoplastic labia majora Hypergonadotropic hypogonadism Muscle weakness Abnormality of the dentition Short middle phalanx of finger Polydactyly Pericardial effusion Peripheral neuropathy Micropenis Flared metaphysis Broad hallux Growth abnormality Short finger Intrauterine growth retardation Intellectual disability, mild Telecanthus Neurological speech impairment Delayed speech and language development Highly arched eyebrow Dandy-Walker malformation Microcornea Short philtrum Pectus carinatum Short metatarsal Feeding difficulties Broad secondary alveolar ridge Agenesis of corpus callosum Upslanted palpebral fissure Narrow mouth 2-3 toe syndactyly Everted lower lip vermilion Irritability Abnormality of the pinna Abnormal atrioventricular conduction Dental malocclusion Hypodontia Hip dislocation Prominent forehead Abnormality of the hand Failure to thrive Cardiomegaly Metatarsus adductus Metaphyseal widening Pes planus Prominent supraorbital ridges Relative macrocephaly Coxa valga Generalized hirsutism Low anterior hairline Gingival overgrowth Long eyelashes Joint laxity Broad forehead Limb muscle weakness Low-set, posteriorly rotated ears Dolichocephaly Cleft upper lip Bulbous nose Feeding difficulties in infancy Triangular face Finger syndactyly Hyperlordosis Preauricular skin tag Omphalocele Clumsiness Tall stature Hoarse voice Renal dysplasia Abnormality of the genital system Abnormality of the ribs Hypoplasia of penis Congenital hip dislocation Multicystic kidney dysplasia Intestinal malrotation Postaxial hand polydactyly Bifid uvula Nail dysplasia Cerebral visual impairment Broad thumb Short foot Abnormal parietal bone morphology Retinal detachment Short upper lip Generalized hypotrichosis Abnormality of the scapula Gingival recession Aplasia/Hypoplasia of the clavicles Hypoplastic facial bones Aplasia/Hypoplasia of the nails Aplasia/Hypoplasia of the distal phalanges of the hand Renal artery stenosis Renovascular hypertension Hypoplasia of the frontal lobes Multiple skeletal anomalies Aplasia/Hypoplasia of the middle phalanges of the hand Generalized neonatal hypotonia Increased nuchal translucency Bilateral external ear deformity Wide cranial sutures Arrhinencephaly Congenital microcephaly Aplastic clavicle Small earlobe Bilateral microphthalmos Absent nipple Aplasia/Hypoplasia of the nipples Redundant neck skin Abnormality of the neck Decreased skull ossification Hypoplastic scapulae Abnormality of finger Sclerocornea Absent sternal ossification Aplasia/Hypoplasia of the hallux Postaxial polydactyly Upper limb muscle weakness Facial asymmetry Camptodactyly of finger Cleft lip Hydronephrosis Hypothyroidism Obesity Abnormality of cardiovascular system morphology Short nose Blindness Abnormal electrophysiology of sinoatrial node origin Distal symphalangism of hands Aplasia of the middle phalanx of the hand Supraventricular arrhythmia Abnormality of the foot Slender long bones with narrow diaphyses Myopathy Aplasia of the distal phalanx of the hallux Aplasia/hypoplasia of the 1st metatarsal Aplasia of the distal phalanges of the hand Aplasia/Hypoplasia of the proximal phalanx of the hallux Narrow nasal base Aplasia/Hypoplasia of the scapulae Abnormality of dental structure Abnormality of the occipital bone Tapered toe Abnormal pelvis bone morphology Short proximal phalanx of hallux Shortening of all distal phalanges of the toes Aplasia of the 1st metacarpal Narrow palpebral fissure Cyst of the ductus choledochus Abnormality of the voice Recurrent urinary tract infections Opisthotonus Ectopic kidney Tricuspid regurgitation Clubbing Proximal placement of thumb Deep philtrum Incoordination Hypoplasia of the radius Torticollis Spontaneous abortion Elbow flexion contracture Increased body weight Aspiration Choanal atresia Weak cry Renal hypoplasia Blue sclerae High myopia Microdontia Otitis media Vesicoureteral reflux Sepsis Sleep disturbance Downturned corners of mouth Pulmonary hypoplasia Vertigo Astigmatism Micromelia Small for gestational age Limited elbow extension Dislocated radial head Craniosynostosis Phocomelia Hypoplastic radial head Abnormality of the umbilicus Reduced renal corticomedullary differentiation Otitis media with effusion Malrotation of colon Duplication of internal organs Projectile vomiting Left-to-right shunt Hypertropia Esophageal stenosis Hypoplastic male external genitalia Absent hand Gastroparesis Supernumerary ribs Hand oligodactyly Hypoplastic nipples Perimembranous ventricular septal defect Short sternum Peters anomaly Panhypopituitarism Volvulus Recurrent hypoglycemia Optic nerve coloboma Abnormality of the gastrointestinal tract Esophagitis Aspiration pneumonia Hiatus hernia Poor appetite Ectrodactyly Oligodactyly Prominent nasal bridge Autistic behavior Nephroblastoma Diastasis recti Embryonal neoplasm Hepatoblastoma Meckel diverticulum Cervical ribs Pancreatic islet-cell hyperplasia Chordee Increased IgE level Ankyloglossia Ureteral duplication Aplasia/Hypoplasia of the abdominal wall musculature Flared iliac wings Abnormality of the helix Renal neoplasm Duodenal atresia Polysplenia Penoscrotal hypospadias Low hanging columella Broad foot Enlarged kidney Abnormal lung lobation Neuroblastoma Transposition of the great arteries Vertebral fusion Vertebral segmentation defect Supernumerary nipple Bundle branch block Hydroureter Bilateral talipes equinovarus Preauricular pit Cupped ear Broad toe Short 2nd finger Pallor Vomiting Respiratory tract infection Camptodactyly Aggressive behavior Proteinuria Conductive hearing impairment Gastroesophageal reflux Autism Glaucoma Hyperactivity Hyperhidrosis Pneumonia Thrombocytopenia Headache Behavioral abnormality Fever Short sacroiliac notch Anemia Nystagmus Two carpal ossification centers present at birth Glossoptosis Cleft lower lip Submucous cleft lip Six lumbar vertebrae Duplication of renal pelvis Penoscrotal transposition Birth length greater than 97th percentile Nephroblastomatosis Narrow sacroiliac notch 2-3 finger syndactyly Posterior helix pit Severe failure to thrive Redundant skin Inverted nipples Broad first metatarsal Hemivertebrae Thickened skin Nephrolithiasis Intellectual disability, profound Bilateral sensorineural hearing impairment Hepatosplenomegaly Dyspnea Dilatation Widened posterior fossa Congenital hypertrophy of left ventricle Hypoplastic ischiopubic rami Cuboid-shaped vertebral bodies Hemangioma Bilateral coxa valga Congenital, generalized hypertrichosis Erlenmeyer flask deformity of the femurs Concentric hypertrophic cardiomyopathy Large sella turcica Deep plantar creases Esodeviation Broad hallux phalanx Ovoid vertebral bodies Short hallux Abnormal heart valve morphology Elevated alkaline phosphatase Spina bifida occulta Aortic root aneurysm Lymphedema Motor delay Polymicrogyria Peripheral axonal neuropathy Talipes Abnormal pyramidal sign Intellectual disability, moderate Muscular hypotonia of the trunk Recurrent respiratory infections Hyporeflexia Encephalopathy Midface retrusion Cerebral atrophy Spasticity Protruding tongue Mesiodens Short distal phalanx of toe Prominent eyelashes Aortic arch aneurysm Everted upper lip vermilion Biliary atresia Cavernous hemangioma Gingival fibromatosis Long penis Colpocephaly Thin bony cortex Dystrophic fingernails Bicuspid aortic valve Abnormality of the metaphysis Hypotelorism Elevated serum creatine phosphokinase Reduced tendon reflexes Abnormal palate morphology Ventricular tachycardia Scapular winging Bilateral single transverse palmar creases Hypoplasia of dental enamel Palpitations Specific learning disability Febrile seizures Syncope Sudden cardiac death Depressivity Ventricular arrhythmia Moyamoya phenomenon Abnormal hand morphology Abnormality of the nares Congenital ptosis Abnormal left ventricle morphology Stroke-like episode Premature graying of hair Cerebral hemorrhage Azoospermia Decreased testicular size Stroke Deeply set eye Oligodontia Myotonia Ventricular hypertrophy Muscle fiber tubular inclusions Narrow chest Platyspondyly Anxiety Skeletal dysplasia Osteopenia Osteoporosis Recurrent infections Aplasia/Hypoplasia of the maxilla Prominent frontal sinuses Bidirectional ventricular ectopy Antegonial notching of mandible Effort-induced polymorphic ventricular tachycardias Right bundle branch block 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 T-wave inversion Left bundle branch block Ventricular extrasystoles Polyneuropathy Lumbar hyperlordosis Short clavicles Pseudoepiphyses of the metacarpals High forehead Cerebellar hypoplasia Edema Respiratory distress Drumstick terminal phalanges Abnormality of the nasal alae Thick nasal septum Bifid sternum Uterine prolapse Lumbar kyphosis Retinoschisis Stooped posture Abnormal cardiac septum morphology Cataplexy Hyperconvex fingernails Abnormal tricuspid valve morphology Narrow iliac wings Thick nasal alae Abnormal diaphysis morphology Rectal prolapse Advanced eruption of teeth Myelopathy Abnormal aortic valve morphology Delayed closure of the anterior fontanelle Craniofacial hyperostosis Sparse hair Microtia Restrictive cardiomyopathy Sparse eyelashes Aplasia/Hypoplasia of the thumb Abnormality of blood and blood-forming tissues Severe hearing impairment Absent thumb Aplasia/Hypoplasia of the eyebrow Rocker bottom foot Absent eyebrow Clitoral hypertrophy Sparse eyebrow Abnormality of pelvic girdle bone morphology Tented upper lip vermilion Short chin Hypotrichosis Short ribs Sparse and thin eyebrow Short thumb Hydrops fetalis Large fontanelles Pachygyria Sparse scalp hair Pulmonary arterial hypertension Tetralogy of Fallot Neuronal loss in central nervous system Premature birth Hypopigmentation of the skin Abnormal mitral valve morphology Hypoplastic fingernail Postnatal microcephaly Misalignment of teeth Kyphosis Frontal bossing Gait disturbance Skeletal muscle atrophy Slender ulna Prominent nipples Prominent antitragus Broad fingertip Osteopathia striata Abnormality of the distal phalanx of finger Talipes valgus Abnormal toenail morphology Mental deterioration Abnormality of the antihelix Tracheomalacia Thoracic scoliosis Ulnar deviation of finger Prematurely aged appearance Spastic diplegia Bilateral cryptorchidism Epiphyseal dysplasia Abnormal dermatoglyphics Knee flexion contracture Hypogonadotrophic hypogonadism Clonus Kyphoscoliosis Joint hyperflexibility Acrocyanosis Coarse hair Soft skin Severe sensorineural hearing impairment Spinal canal stenosis Anteriorly placed anus Atonic seizures Progressive spasticity Loss of consciousness Emphysema Abnormality of neuronal migration Large hands Aplasia/Hypoplasia of the cerebellum Schizophrenia Tetraplegia Sleep apnea Aplasia/Hypoplasia of the corpus callosum Cutis laxa Narrow palate Abnormality of the hair Wide anterior fontanel Abnormality of retinal pigmentation Decreased body weight Mitral regurgitation Abnormal form of the vertebral bodies Open mouth Psychosis Dysplastic tricuspid valve



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Myopia and Thin vermilion border, related diseases and genetic alterations Hepatomegaly and Pectus carinatum, related diseases and genetic alterations Edema and Synophrys, related diseases and genetic alterations Epicanthus and Mitral valve prolapse, related diseases and genetic alterations

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