Carcinoma, and Amyotrophic lateral sclerosis

Diseases related with Carcinoma and Amyotrophic lateral sclerosis

In the following list you will find some of the most common rare diseases related to Carcinoma and Amyotrophic lateral sclerosis that can help you solving undiagnosed cases.


Top matches:

Medium match PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1; PPNAD1


Primary pigmented micronodular adrenocortical disease is a form of ACTH-independent adrenal hyperplasia resulting in Cushing syndrome. It is usually seen as a manifestation of the Carney complex (CNC1 ), a multiple neoplasia syndrome. However, PPNAD can also occur in isolation (Groussin et al., 2002). Genetic Heterogeneity of Primary Pigmented Micronodular Adrenocortical DiseaseSee also PPNAD2 (OMIM ), caused by mutation in the PDE11A gene (OMIM ) on chromosome 2q31; PPNAD3 (OMIM ), caused by mutation in the PDE8B gene (OMIM ) on chromosome 5q13; and PPNAD4 (OMIM ), caused by a duplication on chromosome 19p13 that includes the PRKACA gene (OMIM ).

PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1; PPNAD1 Is also known as pigmented micronodular adrenocortical disease, primary, 1|cushing syndrome, adrenal, due to ppnad1|adrenocortical nodular dysplasia, primary

Related symptoms:

  • Neoplasm
  • Hypertension
  • Kyphosis
  • Obesity
  • Depressivity


SOURCES: OMIM MENDELIAN

More info about PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1; PPNAD1

Medium match CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 1; PFIC1


Progressive familial intrahepatic cholestasis is a heterogeneous group of autosomal recessive liver disorders characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood (Alonso et al., 1994; Whitington et al., 1994; Klomp et al., 2004). Genetic Heterogeneity of Progressive Familial Intrahepatic CholestasisPFIC is a genetically heterogeneous disorder caused by defects in the transport of bile acids. See also PFIC2 (OMIM ), caused by mutation in a liver-specific ATP-binding cassette transporter gene (ABCB11 ) on chromosome 2q24; PFIC3 (OMIM ), caused by mutation in the class III multidrug resistance P-glycoprotein gene (ABCB4 ) on chromosome 7q21; PFIC4 (OMIM ), caused by mutation in the TJP2 gene (OMIM ) on chromosome 9q12; and PFIC5 (OMIM ), caused by mutation in the NR1H4 gene (OMIM ) on chromosome 12q.PFIC1 and PFIC2 are associated with mildly elevated or normal serum levels of gamma-glutamyltransferase (GGT; see {612346}), whereas PFIC3 is associated with high serum GGT levels and liver histology that shows portal inflammation and ductular proliferation in an early stage ({27,26:Maggiore et al., 1987, 1991}). PFIC4 is associated with normal or mildly increased GGT levels (Sambrotta et al., 2014). PFIC5 is associated with low to normal GGT levels.There are also several phenotypically similar liver disorders that result from congenital defects in bile acid synthesis. See CBAS1 (OMIM ).

CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 1; PFIC1 Is also known as byler disease

Related symptoms:

  • Short stature
  • Hearing impairment
  • Growth delay
  • Failure to thrive
  • Sensorineural hearing impairment


SOURCES: OMIM MENDELIAN

More info about CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 1; PFIC1

Medium match IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 1; HIGM1


HIGM is a rare immunodeficiency characterized by normal or elevated serum IgM levels associated with markedly decreased IgG, IgA, and IgE, resulting in a profound susceptibility to bacterial infections and an increased susceptibility to opportunistic infections. Patients with X-linked HIGM also tend to have neutropenia, as well as a high rate of gastrointestinal and central nervous system infections, often resulting in severe liver disease and/or neurodegeneration (summary by Levy et al., 1997). Genetic Heterogeneity of Immunodeficiency with Hyper-IgMOther forms of HIGM include HIGM2 (OMIM ), which results from mutation in the AICDA gene (OMIM ), HIGM3 (OMIM ), which results from mutation in the CD40 gene (OMIM ), and HIGM5 (OMIM ), which results from mutation in the UNG gene (OMIM ). See also HIGM4 (OMIM ).

IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 1; HIGM1 Is also known as hyper-igm immunodeficiency, x-linked|hyper-igm syndrome 1|ihis|hyper-igm syndrome|xhim|imd3|higm|immunodeficiency 3

Related symptoms:

  • Seizures
  • Global developmental delay
  • Failure to thrive
  • Cognitive impairment
  • Anemia


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 1; HIGM1

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Other less relevant matches:

Medium match ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO


Ornithine transcarbamylase deficiency is an X-linked inborn error of metabolism of the urea cycle which causes hyperammonemia. The disorder is treatable with supplemental dietary arginine and low protein diet.Urea cycle disorders are characterized by the triad of hyperammonemia, encephalopathy, and respiratory alkalosis. Five disorders involving different defects in the biosynthesis of the enzymes of the urea cycle have been described: OTC deficiency, carbamyl phosphate synthetase deficiency (OMIM ), argininosuccinate synthetase deficiency, or citrullinemia (OMIM ), argininosuccinate lyase deficiency (OMIM ), and arginase deficiency (OMIM ).

ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO Is also known as ornithine carbamoyltransferase deficiency|otc deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ataxia
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO

Medium match TUBEROUS SCLEROSIS 1; TSC1


Tuberous sclerosis complex (TSC) is an autosomal dominant multisystem disorder characterized by hamartomas in multiple organ systems, including the brain, skin, heart, kidneys, and lung. Central nervous system manifestations include epilepsy, learning difficulties, behavioral problems, and autism. Renal lesions, usually angiomyolipomas, can cause clinical problems secondary to hemorrhage or by compression and replacement of healthy renal tissue, which can cause renal failure. Patients can also develop renal cysts and renal-cell carcinomas. Pulmonary lymphangioleiomyomatosis can develop in the lungs. Skin lesions include melanotic macules, facial angiofibromas, and patches of connective tissue nevi. There is a wide clinical spectrum, and some patients may have minimal symptoms with no neurologic disability (reviews by Crino et al., 2006 and Curatolo et al., 2008). Genetic Heterogeneity of Tuberous SclerosisSee also tuberous sclerosis-2 (OMIM ), which is caused by mutation in the TSC2 gene (OMIM ) on chromosome 16p13.Approximately 10 to 30% of cases of tuberous sclerosis are due to mutations in the TSC1 gene: the frequency of cases due to mutations in the TSC2 gene is consistently higher. TSC2 mutations are associated with more severe disease (Crino et al., 2006) (see GENOTYPE/PHENOTYPE CORRELATIONS section).

TUBEROUS SCLEROSIS 1; TSC1 Is also known as tuberous sclerosis complex|ts|tuberose sclerosis|tsc

Related symptoms:

  • Intellectual disability
  • Seizures
  • Neoplasm
  • Pain
  • Hypertension


SOURCES: OMIM MENDELIAN

More info about TUBEROUS SCLEROSIS 1; TSC1

Medium match XERODERMA PIGMENTOSUM


Xeroderma pigmentosum (XP) is a rare genodermatosis characterized by extreme sensitivity to ultraviolet (UV)-induced changes in the skin and eyes, and multiple skin cancers. It is subdivided into 8 complementation groups, according to the affected gene: classical XP (XPA to XPG) and XP variant (XPV) (see these terms).

XERODERMA PIGMENTOSUM Is also known as xeroderma pigmentosum i|xp1|xp, group a|xp

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about XERODERMA PIGMENTOSUM

Medium match HOYERAAL-HREIDARSSON SYNDROME


Hoyeraal-Hreidarsson syndrome (HHS) is a very rare X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita (see this term) characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia.

HOYERAAL-HREIDARSSON SYNDROME Is also known as progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome|zinsser-cole-engman syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about HOYERAAL-HREIDARSSON SYNDROME

Low match COSTELLO SYNDROME


Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors.

COSTELLO SYNDROME Is also known as fcs syndrome|faciocutaneoskeletal syndrome

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about COSTELLO SYNDROME

Low match TAY-SACHS DISEASE; TSD


Tay-Sachs disease is an autosomal recessive, progressive neurodegenerative disorder which, in the classic infantile form, is usually fatal by age 2 or 3 years.

TAY-SACHS DISEASE; TSD Is also known as b variant gm2-gangliosidosis|gm2-gangliosidosis, type i|hexosaminidase a deficiency|hexa deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about TAY-SACHS DISEASE; TSD

Low match THYROID CARCINOMA, HURTHLE CELL


Hurthle cell carcinoma of the thyroid accounts for approximately 3% of all thyroid cancers. Although they are classified as variants of follicular neoplasms, they are more often multifocal and somewhat more aggressive and are less likely to take up iodine than are other follicular neoplasms (Sanders and Silverman, 1998).Hurthle cell tumors, also known as oxyphil cell tumors, are composed of cells with increased numbers of mitochondria, which corresponds morphologically to their voluminous, granular, eosinophilic cytoplasm (Maximo et al., 2005).

THYROID CARCINOMA, HURTHLE CELL Is also known as hurthle cell thyroid neoplasia

Related symptoms:

  • Carcinoma


SOURCES: MESH OMIM MENDELIAN

More info about THYROID CARCINOMA, HURTHLE CELL

Top 5 symptoms//phenotypes associated to Carcinoma and Amyotrophic lateral sclerosis

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Failure to thrive Common - Between 50% and 80% cases
Neoplasm Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Carcinoma and Amyotrophic lateral sclerosis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Ataxia Growth delay Hearing impairment Short stature Irritability Sepsis Mental deterioration Cerebral cortical atrophy Peripheral neuropathy Generalized hypotonia Hypertension Pes cavus Respiratory failure Dysarthria Hepatomegaly Spasticity Anemia Osteoporosis Cognitive impairment Strabismus Cryptorchidism Gliosis Abnormality of the dentition Optic atrophy Choreoathetosis

Rare Symptoms - Less than 30% cases


Clumsiness Hypertonia Developmental regression Intellectual disability, moderate Hypogonadism Hyperpigmentation of the skin Neurodegeneration Hyperkeratosis Postnatal growth retardation Hyperhidrosis Arrhythmia Decreased testicular size Involuntary movements Respiratory distress Ventriculomegaly Abnormality of cardiovascular system morphology Melanoma Paranoia Thick lower lip vermilion Squamous cell carcinoma Confusion Conjunctivitis Stroke Blepharitis Abnormal heart morphology Bone marrow hypocellularity Hypospadias Cerebral atrophy Telangiectasia Headache Vomiting Edema Anteverted nares Epicanthus Depressed nasal bridge Delayed skeletal maturation Papilloma Hydrocephalus Behavioral abnormality Intellectual disability, mild Renal insufficiency Alopecia Fever Thrombocytopenia Diarrhea Cirrhosis Ophthalmoplegia Abnormality of the liver Hepatosplenomegaly Rod-cone dystrophy Sleep disturbance Splenomegaly Sensorineural hearing impairment Cafe-au-lait spot Aortic aneurysm Mood changes Dysphagia Thin skin Psychosis Osteopenia Depressivity Pneumothorax Hepatic failure Severe short stature Hypoplasia of dental enamel Scoliosis Immunodeficiency Dermal atrophy Hypopigmentation of the skin Hyporeflexia Nevus Cerebral calcification Cataract Hepatocellular carcinoma Pterygium Generalized hyperpigmentation Pancreatitis Microcephaly Narrow palate Large for gestational age Infantile muscular hypotonia Tricuspid regurgitation Rocker bottom foot Abnormality of the hair Hydrops fetalis Hypoplastic toenails Lymphedema Neurodevelopmental delay Arnold-Chiari malformation Wide anterior fontanel Short chin Reduced subcutaneous adipose tissue Hoarse voice Bilateral cryptorchidism Laryngomalacia Hemangioma Acanthosis nigricans Poor suck Pointed chin Cutis laxa Abnormality of the fingernails Relative macrocephaly Hyperextensible skin Hyperglycemia Pyloric stenosis Redundant skin Abnormality of dental enamel Pleural effusion Abnormal dermatoglyphics Heart murmur Failure to thrive in infancy Full cheeks Long eyelashes Myopathy Abnormality of the nervous system Hypoglycemia Coarse facial features Kyphoscoliosis Gastroesophageal reflux Polyhydramnios Proptosis Posteriorly rotated ears Inguinal hernia Pectus excavatum Hernia Absent speech Long philtrum Short nose Atrial septal defect Joint laxity Macrocephaly Low-set ears High palate Feeding difficulties Delayed speech and language development Motor delay Myopia Downslanted palpebral fissures Cardiomyopathy Frontal bossing Abnormality of the skeletal system Ventricular septal defect Talipes equinovarus Respiratory insufficiency Short neck Hypertrophic cardiomyopathy Low-set, posteriorly rotated ears Decreased body weight Abnormality of the skin Tetraplegia Macroglossia Curly hair Premature birth Webbed neck Growth hormone deficiency Hip dysplasia Postural instability Overgrowth Eczema Mitral valve prolapse Apraxia Epidermal acanthosis Atrial fibrillation Ascites High, narrow palate Apnea Pulmonic stenosis Feeding difficulties in infancy Wide mouth Sparse hair Pectus carinatum Arthrogryposis multiplex congenita Hypermetropia Delayed puberty Hematuria Joint hyperflexibility Astigmatism Joint hypermobility Tachycardia Wide nose Thick vermilion border Keratoconus Abnormal mitral valve morphology Neuroblastoma Cerebellar atrophy Abnormal cerebellum morphology Muscle cramps Sensory neuropathy Falls Lower limb muscle weakness Limb muscle weakness Paralysis Pallor Proximal muscle weakness Rigidity Myoclonus Dementia Visual loss Dystonia Blindness Urinary incontinence Gait disturbance Tremor Skeletal muscle atrophy Muscle weakness Increased corneal curvature Systolic heart murmur Thickened Achilles tendon Congenital neuroblastoma Lymphangiectasis Alveolar rhabdomyosarcoma Tendon rupture Vitreomacular adhesion Myofiber disarray Enlarged cerebellum Generalized muscle weakness Memory impairment Loose anagen hair GM2-ganglioside accumulation Internuclear ophthalmoplegia Therapeutic abortion Cherry red spot of the macula Abnormal anterior horn cell morphology Psychotic episodes Decerebrate rigidity Psychomotor deterioration Exaggerated startle response Torsion dystonia Action tremor Proximal amyotrophy Loss of speech Muscle fibrillation Oral-pharyngeal dysphagia Progressive muscle weakness Hypercholesterolemia Hallucinations Fasciculations Aspiration Foot dorsiflexor weakness Muscle stiffness EMG abnormality Progressive hearing impairment Personality changes Hyperkinesis Poor head control Slurred speech Incoordination Apathy Spinal muscular atrophy Macrocephaly at birth Cardiomyocyte hypertrophy Rhabdomyolysis Large earlobe Fasting hypoglycemia Broad philtrum Muscular hypotonia Asymmetric septal hypertrophy Deep palmar crease Labial hypoplasia Redundant neck skin Abnormality of the testis Lack of skin elasticity Central apnea Verrucae Large forehead Achilles tendon contracture Thick upper lip vermilion Woolly hair Concave nail Soft skin Ulnar deviation of finger Tracheomalacia Central hypotonia Syringomyelia Arnold-Chiari type I malformation Neonatal hypoglycemia Obstructive sleep apnea Progeroid facial appearance Severe postnatal growth retardation Microscopic hematuria Thickened nuchal skin fold Fragile nails Megalencephaly Barrel-shaped chest Hypoplasia of teeth Hyperextensibility of the finger joints Bladder carcinoma Ulnar deviation of the wrist Choroid plexus papilloma Neonatal sepsis Multifocal atrial tachycardia Embryonal rhabdomyosarcoma Deep-set nails Vestibular Schwannoma Frontal hirsutism Ganglioneuroblastoma Transitional cell carcinoma of the bladder Concentric hypertrophic cardiomyopathy Hypopnea Shyness Postprandial hyperglycemia Body odor Duodenal ulcer Rhabdomyosarcoma Large face Broad femoral neck Schwannoma Abnormality of earlobe Limited elbow movement Fetal distress Bronchomalacia Thin nail Abnormal pulmonary valve morphology Deep plantar creases Hematemesis Melena Triangular mouth Capillary malformation Bladder neoplasm Ptosis Small for gestational age Abnormal facial shape Coma Protein avoidance Hypoargininemia Respiratory alkalosis Oroticaciduria Wide nasal base Episodic vomiting Cerebral edema Episodic ataxia Alkalosis Acute hepatic failure Hyperammonemia Aciduria Postaxial polydactyly Episodic ammonia intoxication Smooth philtrum Lethargy Thin upper lip vermilion Polydactyly Encephalopathy Impaired memory B cell generation IgE deficiency Opportunistic infection Agranulocytosis Enlarged tonsils Absence of lymph node germinal center Impaired Ig class switch recombination Hyperglutaminemia Low plasma citrulline Cholangiocarcinoma Retinal detachment Polycystic kidney dysplasia CNS hypomyelination Tachypnea Subcutaneous nodule Heterotopia Cardiomegaly Generalized-onset seizure Specific learning disability Focal-onset seizure Brain atrophy Chest pain Renal cyst Nausea Pain Abnormality of the cerebral white matter Cough Attention deficit hyperactivity disorder Skin rash Autistic behavior Abnormality of the kidney Dyspnea Hypothyroidism Autism Glaucoma Hyperactivity Dilatation Congestive heart failure Decreased T cell activation Sclerosing cholangitis Nephroblastoma Primary hypercortisolism Steatorrhea Malnutrition Congenital sensorineural hearing impairment Hyperbilirubinemia Hepatic fibrosis Cholestasis Neuronal loss in central nervous system Pruritus Jaundice Areflexia Paradoxical increased cortisol secretion on dexamethasone suppression test Pigmented micronodular adrenocortical disease Moon facies Intrahepatic cholestasis Adrenocortical carcinoma Decreased circulating ACTH level Adrenal hyperplasia Increased circulating cortisol level Striae distensae Truncal obesity Agitation Hypertrichosis Round face Bruising susceptibility Anxiety Obesity Kyphosis Thrombocytosis Conjugated hyperbilirubinemia Increased IgM level Recurrent bacterial infections Dysgammaglobulinemia Chronic hepatitis IgM deficiency Stomatitis Cholangitis Agammaglobulinemia Gingivitis Recurrent lower respiratory tract infections IgG deficiency IgA deficiency Encephalitis Leukoencephalopathy Chronic diarrhea Fat malabsorption Recurrent otitis media Otitis media Decreased antibody level in blood Neutropenia Hemolytic anemia Autoimmunity Weight loss Recurrent infections Intrahepatic cholestasis with episodic jaundice Increased serum bile acid concentration Civatte bodies Vitamin E deficiency Intermittent jaundice Precocious puberty Infantile spasms Micrognathia Pancytopenia Pulmonary fibrosis Flared metaphysis Epiphora Neonatal respiratory distress Myelodysplasia Anosmia Abnormal intestine morphology Leukopenia Sparse eyelashes Horseshoe kidney Truncal ataxia Sparse scalp hair Decreased fetal movement Abnormality of coagulation Oligohydramnios Gastrointestinal hemorrhage Abnormality of skin pigmentation Carious teeth Nail dystrophy Leukemia Muscular hypotonia of the trunk Cerebellar hypoplasia Intrauterine growth retardation Visual impairment Flat nasal alae Neoplasm of the eye Defective DNA repair after ultraviolet radiation damage Premature graying of hair Increased antibody level in blood Conjunctival telangiectasia Reticular hyperpigmentation Nystagmus Hypertelorism Anal mucosal leukoplakia Pterygium of nails Split nail Generalized hypopigmentation of hair Fragile teeth Brittle scalp hair Reticulated skin pigmentation Phimosis Abnormal leukocyte morphology Pancreatic adenocarcinoma Urethral stenosis Restrictive ventilatory defect Lacrimal duct stenosis Keratoconjunctivitis Esophageal stricture Excessive wrinkled skin Testicular atrophy Ridged nail Aplastic anemia Oral leukoplakia Chromosome breakage Premature loss of teeth Hodgkin lymphoma Acute myeloid leukemia Myeloid leukemia Ankyloblepharon Entropion Hamartoma Flank pain Cortical tubers Cardiac rhabdomyoma Ungual fibroma Dental enamel pits Hypomelanotic macule Subependymal nodules Optic nerve glioma Angiofibromas Renal angiomyolipoma Premature chromatid separation Ependymoma Shagreen patch Adenoma sebaceum Pulmonary lymphangiomyomatosis Fibroma Chylothorax Gingival fibromatosis Astrocytoma Brain neoplasm Wolff-Parkinson-White syndrome White hair Renal neoplasm Generalized hypopigmentation Abnormality of the respiratory system Skin tags Hyperventilation Renal cell carcinoma Chordoma Connective tissue nevi Craniofacial hyperostosis Opacification of the corneal stroma Poikiloderma Telangiectasia of the skin Freckling Macule Hypermelanotic macule Keratitis Melanocytic nevus Ectropion Hypopigmented skin patches Reduced tendon reflexes Neoplasm of the skin Intellectual disability, progressive Aminoaciduria Rhabdomyoma Abnormal vertebral morphology Thickened skin Cutaneous photosensitivity Abnormality of extrapyramidal motor function Dry skin Erythema EEG abnormality Photophobia Arthralgia Fatigue Projection of scalp hair onto lateral cheek Achromatic retinal patches Subungual fibromas Zebra bodies



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