Cardiomyopathy, and Heterotopia

Diseases related with Cardiomyopathy and Heterotopia

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


Top matches:

Medium match MALONIC ACIDURIA


Malonic aciduria is a metabolic disorder caused by deficiency of malonyl-CoA decarboxylase (MCD).

MALONIC ACIDURIA Is also known as malonyl-coa decarboxylase deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Failure to thrive


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about MALONIC ACIDURIA

Medium match SEPTOOPTIC DYSPLASIA


Septooptic dysplasia is a clinically heterogeneous disorder loosely defined by any combination of optic nerve hypoplasia, pituitary gland hypoplasia, and midline abnormalities of the brain, including absence of the corpus callosum and septum pellucidum (Dattani et al., 1998). The diagnosis of this rare congenital anomaly is made when 2 or more features of the classic triad are present. Approximately 30% of patients have complete manifestations, 62% display hypopituitarism, and 60% have an absent septum pellucidum. The disorder is equally prevalent in males and females and is more common in infants born to younger mothers, with a reported incidence of 1 in 10,000 live births (summary by Webb and Dattani, 2010).Also see {516020.0012} for a form of septooptic dysplasia associated with cardiomyopathy and exercise intolerance.

SEPTOOPTIC DYSPLASIA Is also known as de morsier syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about SEPTOOPTIC DYSPLASIA

Low match 16Q24.3 MICRODELETION SYNDROME


16q24.3 microdeletion syndrome is a recently described syndrome associated with variable developmental delay, facial dysmorphism, seizures and autistic spectrum disorder.

16Q24.3 MICRODELETION SYNDROME Is also known as monosomy 16q24.3|del(16)(q24.3)

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Scoliosis
  • Nystagmus


SOURCES: ORPHANET MENDELIAN

More info about 16Q24.3 MICRODELETION SYNDROME

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Other less relevant matches:

Low match CONGENITAL MUSCULAR DYSTROPHY TYPE 1A


Congenital muscular dystrophy type 1A (MCD1A) belongs to a group of neuromuscular disorders with onset at birth or infancy characterized by hypotonia, muscle weakness and muscle wasting.

CONGENITAL MUSCULAR DYSTROPHY TYPE 1A Is also known as muscular dystrophy, congenital merosin-deficient|cmd1a|merosin-negative congenital muscular dystrophy|mdc1a|congenital muscular dystrophy due to laminin alpha2 deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL MUSCULAR DYSTROPHY TYPE 1A

Low match SCHIMKE IMMUNO-OSSEOUS DYSPLASIA


Schimke immuno-osseous dysplasia (SIOD) is a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome.

SCHIMKE IMMUNO-OSSEOUS DYSPLASIA Is also known as immunoosseous dysplasia, schimke type|schimke syndrome|spondyloepiphyseal dysplasia-nephrotic syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SCHIMKE IMMUNO-OSSEOUS DYSPLASIA

Low match MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY; MADD


Glutaric aciduria II (GA2) is an autosomal recessively inherited disorder of fatty acid, amino acid, and choline metabolism. It differs from GA I (GA1 ) in that multiple acyl-CoA dehydrogenase deficiencies result in large excretion not only of glutaric acid, but also of lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids. GA II results from deficiency of any 1 of 3 molecules: the alpha (ETFA) and beta (ETFB) subunits of electron transfer flavoprotein, and electron transfer flavoprotein dehydrogenase (ETFDH). The clinical picture of GA II due to the different defects appears to be indistinguishable; each defect can lead to a range of mild or severe cases, depending presumably on the location and nature of the intragenic lesion, i.e., mutation, in each case (Goodman, 1993; Olsen et al., 2003).The heterogeneous clinical features of patients with MADD fall into 3 classes: a neonatal-onset form with congenital anomalies (type I), a neonatal-onset form without congenital anomalies (type II), and a late-onset form (type III). The neonatal-onset forms are usually fatal and are characterized by severe nonketotic hypoglycemia, metabolic acidosis, multisystem involvement, and excretion of large amounts of fatty acid- and amino acid-derived metabolites. Symptoms and age at presentation of late-onset MADD are highly variable and characterized by recurrent episodes of lethargy, vomiting, hypoglycemia, metabolic acidosis, and hepatomegaly often preceded by metabolic stress. Muscle involvement in the form of pain, weakness, and lipid storage myopathy also occurs. The organic aciduria in patients with the late-onset form of MADD is often intermittent and only evident during periods of illness or catabolic stress (summary by Frerman and Goodman, 2001).Importantly, riboflavin treatment has been shown to ameliorate the symptoms and metabolic profiles in many MADD patients, particularly those with type III, the late-onset and mildest form (Liang et al., 2009).

MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY; MADD Is also known as ema|ethylmalonic-adipicaciduria|glutaric aciduria ii|ga ii|glutaric acidemia ii|ga2

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY; MADD

Low match VICI SYNDROME


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

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

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about VICI SYNDROME

Low match 1P36 DELETION SYNDROME


1p36 deletion syndrome is a chromosomal anomaly characterized by distinctive facial dysmorphic features, hypotonia, developmental delay, intellectual disability, seizures, heart defects, hearing impairment and prenatal onset growth deficiency.

1P36 DELETION SYNDROME Is also known as del(1)(p36)|monosomy 1p36|monosomy 1pter|deletion 1pter|deletion 1p36|monosomy 1p36 syndrome|subtelomeric 1p36 deletion

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about 1P36 DELETION SYNDROME

Low match MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE; MCPH13


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE; MCPH13

Low match CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID; ARCL2D


Autosomal recessive cutis laxa type IID (ARCL2D) is characterized by generalized skin wrinkling with sparse subcutaneous fat and dysmorphic progeroid facial features. Most patients also exhibit severe hypotonia as well as cardiovascular and neurologic involvement (summary by Van Damme et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (OMIM ).

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Hypertelorism
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID; ARCL2D

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Heterotopia

Symptoms // Phenotype % cases
Seizures Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Cardiomyopathy and Heterotopia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Ventriculomegaly Motor delay Abnormal facial shape Growth delay Muscular hypotonia Failure to thrive Feeding difficulties Hypoplasia of the corpus callosum Strabismus Agenesis of corpus callosum Cataract Cryptorchidism Nystagmus Dysphagia Dilated cardiomyopathy Muscle weakness Polymicrogyria Hypertrophic cardiomyopathy Scoliosis Pachygyria Depressed nasal bridge Congestive heart failure Micrognathia Pneumonia Microcephaly Long philtrum Hearing impairment Ventricular septal defect Kyphosis Anteverted nares Myopia Delayed speech and language development High palate Spasticity Triangular face Pointed chin Cognitive impairment Gait disturbance Respiratory distress Cerebellar hypoplasia Respiratory failure Colpocephaly Low-set ears Feeding difficulties in infancy Hyperlordosis Abnormality of the cerebral white matter Decreased body weight Myopathy Gliosis Cavum septum pellucidum Hypertelorism Hypoglycemia Vomiting Fever Visual impairment Micropenis Autism Diarrhea Hypothyroidism Acidosis

Rare Symptoms - Less than 30% cases


Cerebellar atrophy Absent speech Immunodeficiency Waddling gait Atrial septal defect Headache Aspiration Hyperammonemia Open mouth Recurrent infections Focal-onset seizure Constipation Ketosis Focal impaired awareness seizure Lymphopenia Hip dislocation Narrow palpebral fissure Congenital sensorineural hearing impairment Episodic vomiting Neonatal hypotonia Abnormality of the pinna Gastroesophageal reflux Lactic acidosis Respiratory tract infection Elevated serum creatine phosphokinase Poor suck Abnormality of the liver Congenital cataract Wide nasal bridge Intrauterine growth retardation Abnormality of the kidney Muscle flaccidity Pulmonary hypoplasia Hepatic steatosis Renal cyst Abnormality of the optic disc Impaired mastication Pontocerebellar atrophy Abnormality of the mandible Tetraparesis Left ventricular hypertrophy Ocular albinism Bulbous nose Abnormal cortical gyration Wide anterior fontanel Decreased liver function Metabolic acidosis Downslanted palpebral fissures Neutropenia Arrhythmia Brain atrophy Spastic tetraparesis Behavioral abnormality Areflexia Sloping forehead Aplasia/Hypoplasia of the corpus callosum Combined immunodeficiency Intellectual disability, moderate High forehead Dilatation Upslanted palpebral fissure Thrombocytopenia Abnormality of the eye Severe global developmental delay Cleft upper lip Joint stiffness Cellular immunodeficiency Frontal bossing Exercise intolerance Optic nerve hypoplasia Astigmatism EEG abnormality Hypermelanotic macule Cerebral cortical atrophy Camptodactyly Blepharophimosis Hypospadias Short foot Optic atrophy Epicanthus Pain Absent septum pellucidum Cleft palate Sensorineural hearing impairment Protruding ear Infantile muscular hypotonia Sepsis Flexion contracture Obesity Severe short stature Mitral regurgitation Abnormal immunoglobulin level Respiratory insufficiency Hip dysplasia Delayed myelination Thick vermilion border Ventricular hypertrophy Talipes equinovarus Abnormal corpus callosum morphology Ureteral atresia Aplasia/Hypoplasia of the macula Patent ductus arteriosus Posteriorly rotated ears Abnormal cardiac septum morphology Coloboma Prominent forehead Decreased T cell activation Pes cavus Clinodactyly of the 5th finger Camptodactyly of finger Delayed skeletal maturation Immunoglobulin IgG2 deficiency White matter neuronal heterotopia Penile hypospadias Abnormality of cardiovascular system morphology Deeply set eye Conductive hearing impairment Hydronephrosis Malar flattening Cerebral atrophy Mandibular prognathia Midface retrusion Aggressive behavior Narrow mouth Hypogonadism Wide nasal base Brachydactyly Low-set, posteriorly rotated ears Acute bronchitis Brachycephaly Clinodactyly Hydrocephalus Severe T-cell immunodeficiency Abnormality of the skeletal system Fair hair Cutaneous anergy Hypopigmentation of the skin Adducted thumb Leukopenia Recurrent bacterial infections Increased body weight Progressive microcephaly Abnormality of retinal pigmentation Progressive neurologic deterioration Cerebellar vermis hypoplasia Hypotelorism Narrow forehead Decreased antibody level in blood Sleep disturbance Neurodevelopmental delay High, narrow palate Wide nose Postnatal growth retardation Cleft lip Muscular hypotonia of the trunk Coarse facial features Rod-cone dystrophy Recurrent respiratory infections Hypertonia Hyperreflexia Peripheral neuropathy Ptosis Albinism Macular atrophy Frontoparietal polymicrogyria Chronic mucocutaneous candidiasis Schizencephaly Abnormal macular morphology Abnormality of the cerebellar vermis Abnormality of the thymus Recurrent aspiration pneumonia Decreased proportion of CD4-positive T cells Granulocytopenia Abnormal posturing Recurrent fungal infections Hypopigmentation of the fundus Hypoplasia of the thymus Recurrent viral infections Hypoplasia of the pons Bronchitis Neurological speech impairment Renal tubular dysfunction Depressed nasal tip Severe failure to thrive Aspiration pneumonia IgG deficiency Severe sensorineural hearing impairment Hypopigmentation of hair Optic neuropathy Abnormality of immune system physiology Renal tubular acidosis Centrally nucleated skeletal muscle fibers Microtia Hypercholesterolemia Small for gestational age Impaired social interactions Abnormal external genitalia Mask-like facies Horizontal eyebrow Hypoplastic labia minora Annular pancreas Aortic arch aneurysm Right bundle branch block Abnormality of brain morphology Expressive language delay Abnormality of the anus Bundle branch block Gastric ulcer Abnormality of female external genitalia Lambdoidal craniosynostosis Periventricular leukomalacia Talipes valgus Left ventricular noncompaction 11 pairs of ribs Abnormality of the testis Dilation of lateral ventricles Delayed CNS myelination Volvulus Redundant neck skin Abnormality of the spleen Abnormality of chromosome stability Delayed closure of the anterior fontanelle Rib fusion Thickened helices Abnormal renal physiology Abnormal left ventricle morphology Biliary tract abnormality Cutis laxa Abnormal social behavior Lower limb asymmetry Restrictive cardiomyopathy Round face Small hand Mild short stature Craniosynostosis Agenesis of the anterior commissure Solitary renal cyst Abnormality of the renal pelvis Abnormality of the cerebral ventricles Abnormal parietal bone morphology Hyperplastic labia majora Aplasia/Hypoplasia involving bones of the feet Congenital talipes calcaneovalgus Cortical gyral simplification Partial agenesis of the corpus callosum Metaphyseal sclerosis Cranial nerve VI palsy Ebstein anomaly of the tricuspid valve Noncompaction cardiomyopathy Asymmetry of the ears Oppositional defiant disorder Abnormality of the hairline Hypoplastic female external genitalia Bifid ribs Abnormality of the femoral neck Hernia Widened subarachnoid space Bilobate gallbladder Convex nasal ridge Retrognathia Macrotia Inguinal hernia Abnormality of the neck Optic nerve coloboma Hypermetropia Hypertrichosis Abnormality of vision Delayed gross motor development Scrotal hypoplasia Sacral dimple Bicuspid aortic valve Leukoencephalopathy Prominent nose Cranial nerve paralysis Abnormal intestine morphology Generalized hirsutism Short phalanx of finger Stereotypy Telangiectasia Large fontanelles Depressed nasal ridge Patent foramen ovale Epileptic encephalopathy Synophrys Poor speech Oral cleft Bifid uvula Intestinal malrotation Abnormality of the skin Abnormal blistering of the skin Interphalangeal joint contracture of finger Tetralogy of Fallot Hypoplasia of penis Optic disc pallor Coarctation of aorta Abnormality of the ribs Hypsarrhythmia Pyloric stenosis Failure to thrive in infancy Abnormality of the gastrointestinal tract Overweight Aortic root aneurysm Disproportionate tall stature Spinal canal stenosis Foot polydactyly Abnormal lung lobation Epileptic spasms Arnold-Chiari type I malformation Submucous cleft hard palate Self-mutilation Hiatus hernia Abnormal eyebrow morphology Coronal craniosynostosis Short 5th finger Missing ribs Entropion Congenital hypothyroidism Hand polydactyly Polyphagia Self-injurious behavior Clitoral hypertrophy Hemiplegia/hemiparesis Metatarsus adductus Delayed cranial suture closure Dysphasia Macule Anteriorly placed anus High hypermetropia Infantile spasms Abnormal heart valve morphology Abnormality of the immune system Slender long bone Neuroblastoma Telangiectasia of the skin Leukodystrophy Abnormality of blood glucose concentration Abnormality of the temporomandibular joint Proteinuria Thin upper lip vermilion Osteopenia Dementia Renal insufficiency Abnormality of the dentition Short neck Hypertension Anemia Highly elevated creatine phosphokinase Absent muscle fiber merosin Abnormal brainstem MRI signal intensity Intercostal muscle weakness Hypointensity of cerebral white matter on MRI Scarring Inferior vermis hypoplasia Increased endomysial connective tissue Diffuse white matter abnormalities Muscle fiber atrophy Increased connective tissue Cerebral edema Astrocytosis Atelectasis Reduced ejection fraction Myositis Recurrent lower respiratory tract infections Abnormality of visual evoked potentials Hypoventilation Abnormality of the periventricular white matter Developmental regression Autoimmunity Weak cry Fine hair Epiphyseal dysplasia Glomerulosclerosis Encephalitis Chronic kidney disease Coarse hair Reduced bone mineral density Azoospermia Hyperlipidemia Atherosclerosis Opacification of the corneal stroma Bone marrow hypocellularity Abnormality of epiphysis morphology Abnormal form of the vertebral bodies Abnormal lung morphology Intellectual disability, profound Stroke Lumbar hyperlordosis Nephrotic syndrome Microdontia Decreased testicular size Lymphoma Premature birth Migraine Abnormal cerebellum morphology Nephropathy Abnormality of skin pigmentation Stage 5 chronic kidney disease Malabsorption Platyspondyly Corneal opacity Protruding tongue Hypokinesia Nephritis Short finger Decreased circulating luteinizing hormone level Bitemporal hemianopia Pituitary dwarfism Septo-optic dysplasia Ectopic posterior pituitary Optic disc hypoplasia Anterior pituitary hypoplasia Hemianopia Adrenocorticotropic hormone deficiency Panhypopituitarism Amniotic constriction ring Severe vision loss Hypopituitarism Diabetes insipidus Autistic behavior Precocious puberty Cerebral palsy Hypocalcemia Dehydration Growth hormone deficiency Talipes Abnormality of eye movement Polydactyly Syndactyly Chronic constipation Poor appetite Recurrent urinary tract infections Febrile seizures Abdominal pain Decreased circulating follicle stimulating hormone level Wide mouth Myopathic facies Paralysis Congenital muscular dystrophy Limb-girdle muscular dystrophy Respiratory insufficiency due to muscle weakness Lissencephaly Absence seizures Congenital hip dislocation Sensorimotor neuropathy Progressive muscle weakness Pulmonary arterial hypertension Bradykinesia Macroglossia Inability to walk Ophthalmoplegia Muscular dystrophy Facial palsy Smooth philtrum Kyphoscoliosis Abnormality of metabolism/homeostasis Intellectual disability, severe Skeletal muscle atrophy Periventricular gray matter heterotopia Single median maxillary incisor Increased mean corpuscular volume Abnormal hair pattern Biparietal narrowing Proximal placement of thumb Chronic otitis media Preauricular skin tag Highly arched eyebrow Long face Glomerulonephritis Melanocytic nevus Electron transfer flavoprotein-ubiquinone oxidoreductase defect Restrictive ventilatory defect Organic aciduria Chronic fatigue Excessive daytime somnolence Ketonuria Cardiorespiratory arrest Progressive proximal muscle weakness Myoglobinuria Drowsiness Fatigable weakness Acute kidney injury Rhabdomyolysis Glycosuria Difficulty climbing stairs Ventricular fibrillation Exercise-induced myalgia Stridor Hemiplegia Back pain Polycystic kidney dysplasia Slurred speech Easy fatigability Poor head control Mutism Ragged-red muscle fibers Pancreatitis Scapular winging Type I diabetes mellitus Cardiac arrest Clonus Hypoketotic hypoglycemia Medulloblastoma Renal dysplasia Gastrointestinal inflammation Hepatic periportal necrosis Defective dehydrogenation of isovaleryl CoA and butyryl CoA Abnormality of branched chain family amino acid metabolism Fatigable weakness of neck muscles Fatigable weakness of distal limb muscles Hypersarcosinemia Ethylmalonic aciduria Reye syndrome-like episodes Reduced protein C activity Elevated plasma acylcarnitine levels Ketotic hypoglycemia Increased muscle lipid content Glutaric acidemia Arthralgia of the hip Narcolepsy Proximal tubulopathy Cataplexy Renal cortical cysts Limb tremor Nonketotic hypoglycemia Hypoglycemic coma Personality disorder Progressive spastic quadriplegia Glutaric aciduria Oliguria Generalized aminoaciduria Respiratory arrest Acute pancreatitis Loss of ability to walk Abnormality of the renal tubule Anorexia Abnormality of the genital system Spondyloepiphyseal dysplasia Cerebral ischemia Moyamoya phenomenon Abnormal T cell morphology Encephalomalacia Increased thyroid-stimulating hormone level Shallow acetabular fossae Steroid-resistant nephrotic syndrome Multiple lentigines Mucopolysacchariduria Hypoplasia of the capital femoral epiphysis Arteriosclerosis Right ventricular cardiomyopathy Dentinogenesis imperfecta Subvalvular aortic stenosis Precocious atherosclerosis Villous atrophy Anterior pituitary dysgenesis Lymphoproliferative disorder B-cell lymphoma Disproportionate short-trunk short stature Ovoid vertebral bodies Thoracic kyphosis Transient ischemic attack Abnormality of the vasculature Protuberant abdomen Glomerulopathy Multiple cafe-au-lait spots Steatorrhea High pitched voice Emphysema Focal segmental glomerulosclerosis Premature arteriosclerosis Nephrosclerosis Cardiomegaly Elevated hepatic transaminase Aciduria Increased serum lactate Generalized muscle weakness Tetraplegia Muscle cramps Coma Nausea Joint hyperflexibility Limb muscle weakness Nausea and vomiting Lethargy Telecanthus Myalgia Proximal muscle weakness Difficulty walking Lateral displacement of the femoral head Jaundice Arthralgia Dyspnea Weight loss Gait ataxia Encephalopathy Depressivity Edema Fatigue Tremor Macrocephaly Dysarthria Hepatomegaly Ataxia Narrow naris



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like High palate and Hypotrichosis, related diseases and genetic alterations Immunodeficiency and Astigmatism, related diseases and genetic alterations Cognitive impairment and Bifid uvula, related diseases and genetic alterations Cataract and Cerebral atrophy, related diseases and genetic alterations Hypertelorism and Proximal muscle weakness, related diseases and genetic alterations Leukemia and Low posterior hairline, related diseases and genetic alterations Hearing impairment and Talipes, related diseases and genetic alterations

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