Carcinoma, and Limitation of joint mobility

Diseases related with Carcinoma and Limitation of joint mobility

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


Top matches:

Medium match DESMOID TUMOR


A desmoid tumor (DT) is a benign, locally invasive soft tissue tumor associated with a high recurrence rate but with no metastatic potential.

DESMOID TUMOR Is also known as fif|aggressive fibromatosis|desmoid type fibromatosis|fibromatosis, familial infiltrative

Related symptoms:

  • Neoplasm
  • Abdominal pain
  • Arthralgia
  • Myalgia
  • Hydronephrosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about DESMOID TUMOR

Medium match HYDROCEPHALUS WITH STENOSIS OF THE AQUEDUCT OF SYLVIUS


Hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS) is a historical term used to describe a phenotype now considered to be part of the X-linked L1 clinical spectrum (L1 syndrome, see this term). HSAS is characterized by severe hydrocephalus mostly with prenatal onset, signs of intracranial hypertension, adducted thumbs, spasticity, and severe intellectual deficit. HSAS represents the severe end of the spectrum and is associated with poor prognosis.

HYDROCEPHALUS WITH STENOSIS OF THE AQUEDUCT OF SYLVIUS Is also known as x-linked hydrocephalus|hsas1|hycx|aqueductal stenosis, x-linked|bickers-adams syndrome|x-linked acqueductal stenosis|xlas|hydrocephalus, x-linked|x-linked hydrocephalus with stenosis of aqueduct of sylvius|x-linked hsas|hsas

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYDROCEPHALUS WITH STENOSIS OF THE AQUEDUCT OF SYLVIUS

Medium match PROGEROID FEATURES-HEPATOCELLULAR CARCINOMA PREDISPOSITION SYNDROME


Ruijs et al. (2003) reported a Moroccan boy with a chromosomal breakage who died of hepatocellular carcinoma at age 17 years. The boy was noted to have growth retardation at age 3 years; at age 7 he was found to have thoracic kyphosis, frontal bossing, and a delayed bone age of approximately 3 years. He underwent surgery for severe bilateral posterior subcapsular cataracts at age 14. Examination at age 15 showed short stature and low weight, with premature graying of scalp hair, small frontotemporal diameter, small deep-set eyes, bulbous nose with high nasal bridge, small upper lip, and micrognathia. In addition, he had thoracic kyphoscoliosis, sloping shoulders, mild pectus excavatum, moderate bilateral contractures of both elbows, bilateral clinodactyly, and pes planus. At age 17, he developed abdominal pain, and ultrasonography revealed a liver mass; biopsy confirmed hepatocellular carcinoma. Because of the advanced stage, no treatment was possible, and he died 2 months later. Although his parents were not known to be consanguineous, they originated from the same small Moroccan village.Lessel et al. (2014) studied 2 brothers from a nonconsanguineous Australian family of European ancestry who exhibited low body weight, micrognathia, triangular face, muscular atrophy, lipodystrophy, bilateral simian creases, delayed bone age, and mild joint restrictions in the fingers and elbows. In addition, both brothers developed early-onset hepatocellular carcinoma, at ages 16 and 14 years, respectively. The older brother died at age 18 from complications of acute fulminant hepatic failure. Analysis of patient tumor biopsies showed strong focal accumulations of cancer biomarkers as well as a high proliferative index compared to healthy liver or to cells from idiopathic hepatocellular carcinoma.

PROGEROID FEATURES-HEPATOCELLULAR CARCINOMA PREDISPOSITION SYNDROME Is also known as ruijs-aalfs syndrome

Related symptoms:

  • Short stature
  • Growth delay
  • Neoplasm
  • Micrognathia
  • Pain


SOURCES: ORPHANET OMIM MENDELIAN

More info about PROGEROID FEATURES-HEPATOCELLULAR CARCINOMA PREDISPOSITION SYNDROME

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Other less relevant matches:

Medium match CRISPONI/COLD-INDUCED SWEATING SYNDROME 2; CISS2


Crisponi/cold-induced sweating syndrome is an autosomal recessive disorder characterized in the neonatal period by orofacial weakness with impaired sucking and swallowing resulting in poor feeding necessitating medical intervention. Affected infants show a tendency to startle, with contractions of the facial muscles in response to tactile stimuli or during crying, trismus, abundant salivation, and opisthotonus. During the first year, most infants have spiking fevers. These features, referred to as 'Crisponi syndrome' in infancy, can result in early death without advanced care. After the first 2 years, the abnormal muscle contractions and fevers abate, and most patients show normal psychomotor development. From childhood onward, the most disabling symptoms stem from impaired thermoregulation and disabling abnormal sweating, which can be treated with clonidine. Patients have hyperhidrosis, mainly of the upper body, in response to cold temperatures, and sweat very little with heat. Other features include characteristic facial anomalies, such as round face, chubby cheeks, micrognathia, high-arched palate, low-set ears, and depressed nasal bridge, dental decay, camptodactyly, and progressive kyphoscoliosis (summary by Hahn et al., 2010).For a discussion of genetic heterogeneity of Crisponi/cold-induced sweating syndrome, see CISS1 (OMIM ).

Related symptoms:

  • Scoliosis
  • Micrognathia
  • Muscle weakness
  • Pain
  • Low-set ears


SOURCES: OMIM MESH MENDELIAN

More info about CRISPONI/COLD-INDUCED SWEATING SYNDROME 2; CISS2

Medium match MUTILATING PALMOPLANTAR KERATODERMA WITH PERIORIFICIAL KERATOTIC PLAQUES


Mutilating palmoplantar keratoderma (PPK) with periorificial keratotic plaques (also known as Olmsted syndrome) is a hereditary palmoplantar keratoderma characterized by the combination of bilateral mutilating transgredient palmoplantar keratoderma and periorificial keratotic plaques.

MUTILATING PALMOPLANTAR KERATODERMA WITH PERIORIFICIAL KERATOTIC PLAQUES Is also known as palmoplantar and periorificial keratoderma|mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques|olms|olmsted syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MUTILATING PALMOPLANTAR KERATODERMA WITH PERIORIFICIAL KERATOTIC PLAQUES

Medium match KID SYNDROME


Keratitis (and hystrix-like) ichthyosis deafness (KID/HID) syndrome is a rare congenital ectodermal disorder characterized by vascularizing keratitis, hyperkeratotic skin lesions and hearing loss.

KID SYNDROME Is also known as ichthyosis hystrix rheydt type|keratitis-ichthyosis-deafness/hystrix-like ichthyosis-deafness syndrome|senter syndrome|kid/hid syndrome|kid syndrome, autosomal dominant

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Neoplasm
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about KID SYNDROME

Medium match WERNER SYNDROME


Werner syndrome (WS) is a rare inherited syndrome characterized by premature aging with onset in the third decade of life and with cardinal clinical features including bilateral cataracts, short stature, graying and thinning of scalp hair, characteristic skin disorders and premature onset of additional age-related disorders.

WERNER SYNDROME Is also known as ws|adult progeria

Related symptoms:

  • Short stature
  • Neoplasm
  • Pain
  • Cataract
  • Visual impairment


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about WERNER SYNDROME

Medium match CARTILAGE-HAIR HYPOPLASIA


Cartilage-hair hypoplasia is a disease affecting the bone metaphyses causing small stature from birth.

CARTILAGE-HAIR HYPOPLASIA Is also known as autosomal recessive metaphyseal chondrodysplasia|metaphyseal chondrodysplasia, mckusick type

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about CARTILAGE-HAIR HYPOPLASIA

Low match PROTEUS SYNDROME


Proteus syndrome (PS) is a very rare and complex hamartomatous overgrowth disorder characterized by progressive overgrowth of the skeleton, skin, adipose, and central nervous systems.

PROTEUS SYNDROME Is also known as partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome|gigantism, partial, of hands and feet, nevi, hemihypertrophy, and macrocephaly

Related symptoms:

  • Intellectual disability
  • Seizures
  • Scoliosis
  • Hypertelorism
  • Nystagmus


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about PROTEUS SYNDROME

Low match HUTCHINSON-GILFORD PROGERIA SYNDROME


Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat).

HUTCHINSON-GILFORD PROGERIA SYNDROME Is also known as progeria|hgps

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about HUTCHINSON-GILFORD PROGERIA SYNDROME

Top 5 symptoms//phenotypes associated to Carcinoma and Limitation of joint mobility

Symptoms // Phenotype % cases
Neoplasm Common - Between 50% and 80% cases
Pain Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Flexion contracture Uncommon - Between 30% and 50% cases
Carious teeth Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Carcinoma and Limitation of joint mobility. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Short stature Alopecia Lipodystrophy Growth delay Scoliosis Cataract Hyperkeratosis Delayed skeletal maturation Joint stiffness Neoplasm of the skin Sparse hair Abnormality of retinal pigmentation Squamous cell carcinoma Abnormality of the dentition Osteolysis Hearing impairment Visual impairment Renal cell carcinoma Alopecia of scalp Proptosis Kyphosis Abdominal pain Micrognathia Skeletal muscle atrophy Kyphoscoliosis Sparse and thin eyebrow Decreased body weight Elbow flexion contracture Premature graying of hair Hyperhidrosis Anteverted nares Macrotia Osteoporosis Sensorineural hearing impairment Depressed nasal bridge Neoplasm of the lung Hypertension Skin ulcer Thickened skin Convex nasal ridge Nail dysplasia Seizures Hypotrichosis Chest pain Macrocephaly Strabismus

Rare Symptoms - Less than 30% cases


Oral leukoplakia Pili torti Generalized osteoporosis Abnormal facial shape Meningioma Hyperlordosis Peripheral neuropathy Narrow nasal ridge Splenomegaly Recurrent infections Immunodeficiency Arteriosclerosis Enlarged joints Melanoma Constipation Syndactyly Cardiomyopathy Joint laxity Ovarian neoplasm Limited elbow extension Erythema Scleroderma Delayed eruption of teeth Hip dislocation Nail dystrophy Visual loss Failure to thrive Lipoatrophy Ichthyosis Round face Scaling skin Myopia Abnormality of the skeletal system Palmoplantar keratoderma Hypodontia Epidermal acanthosis Severe short stature Lumbar hyperlordosis High pitched voice Posterior subcapsular cataract Prominent forehead Global developmental delay Keratoconjunctivitis sicca Hypergonadotropic hypogonadism Thin bony cortex Lymphopenia Low-set ears Dilatation Insulin resistance Cognitive impairment Nystagmus Myocardial infarction Metaphyseal widening Hemiplegia/hemiparesis Generalized hyperkeratosis Hypopigmentation of the skin Small hand Congestive heart failure Subcutaneous nodule Gastrointestinal hemorrhage Malabsorption Leukemia Hypogonadism Thrombocytosis Abnormal form of the vertebral bodies Increased bone mineral density Abnormality of the tongue Dermal atrophy Hypohidrosis Atherosclerosis Sparse eyelashes Reduced tendon reflexes Clinodactyly Subcapsular cataract Aganglionic megacolon Lack of skin elasticity Narrow chest Abnormality of the thorax Fine hair Decreased antibody level in blood Down-sloping shoulders Skeletal dysplasia High myopia Open mouth Abnormality of the nail Abnormal vertebral morphology Lymphedema Heterotopia Spinal canal stenosis Irregular hyperpigmentation Reduced number of teeth Growth abnormality Sinusitis Decreased muscle mass Pulmonary embolism Melanocytic nevus Hallux valgus Abnormality of the metacarpal bones Hemangioma Disproportionate tall stature Goiter Diabetes insipidus Hyperostosis Pericardial effusion Neurofibromas Generalized hirsutism Multiple lipomas Chorioretinal coloboma Venous thrombosis Multiple cafe-au-lait spots Palmoplantar hyperkeratosis Hamartoma Generalized hyperpigmentation Cachexia Abnormality of dental enamel Headache Overgrowth Bronchiolitis Abnormality of the distal phalanx of finger Abnormal T cell morphology Hypoplastic anemia Abnormally ossified vertebrae Abnormal bone ossification Neonatal short-limb short stature Congenital hypoplastic anemia Spinal dysraphism Large face Hypersplenism Normocytic anemia Mucopolysacchariduria Abnormal diaphysis morphology Diaphyseal thickening Abnormality of chromosome stability Long fibula Metaphyseal cupping Cellular immunodeficiency Metaphyseal chondrodysplasia Aplasia/Hypoplasia affecting the eye Aplasia/Hypoplasia of the abdominal wall musculature Abnormality of the pancreas Aplastic anemia B-cell lymphoma Generalized joint laxity Tracheal stenosis Fair hair Heart block Upper limb undergrowth Overweight Narrow vertebral interpedicular distance Non-Hodgkin lymphoma Nevus Clinodactyly of the 5th finger Gliosis Sudden cardiac death Abdominal distention Renal cyst Polymicrogyria Long face Abnormality of skin pigmentation Confusion Facial asymmetry Dolichocephaly Finger syndactyly Craniosynostosis Intellectual disability, moderate Glaucoma Abnormality of cardiovascular system morphology Metaphyseal dysostosis Downslanted palpebral fissures Optic atrophy Fever Ptosis Hypertelorism Pulmonary lymphoma Susceptibility to chickenpox Flaring of lower rib cage Absent pubertal growth spurt Abnormality of humoral immunity Biconvex vertebral bodies Severe T-cell immunodeficiency Sparse facial hair Impaired lymphocyte transformation with phytohemagglutinin Abnormal lung lobation Testicular neoplasm Lipoma Thin ribs Hyperinsulinemia Premature ovarian insufficiency Heart murmur Multiple joint contractures Prolonged QT interval Exertional dyspnea Hypoplastic nipples Nasal speech Short clavicles Abnormal EKG Absent eyelashes Transient ischemic attack Fragile nails Hyperphosphatemia Intracranial hemorrhage Relative macrocephaly Osteolytic defects of the phalanges of the hand Dental crowding Cardiomegaly Hypertriglyceridemia Osteoarthritis Thin skin Broad-based gait Left ventricular hypertrophy Aortic valve stenosis Hypercholesterolemia Aspiration Hypogonadotrophic hypogonadism Coxa valga Aminoaciduria Hyperlipidemia Acanthosis nigricans Ovoid vertebral bodies Prominent superficial veins Cyanosis Bilateral coxa valga Bird-like facies Prominent scalp veins Hypoplastic facial bones Reticulated skin pigmentation Old-aged sensorineural hearing impairment Craniofacial disproportion Narrow nasal tip Parietal bossing Carotid artery stenosis Absence of pubertal development Insulin-resistant diabetes mellitus at puberty Abnormal trabecular bone morphology Regional abnormality of skin Arteriosclerosis of small cerebral arteries Mitral valve calcification Widely patent fontanelles and sutures Angina pectoris Aplastic clavicle Small face Aplasia/Hypoplasia of the earlobes Precocious atherosclerosis Decreased serum estradiol Prolonged prothrombin time Carcinoid tumor Hip pain Intermittent claudication Absence of subcutaneous fat Thin nail Premature coronary artery atherosclerosis Decreased testosterone in males Sinus tachycardia Corneal arcus Abnormality of the cardiovascular system Growth hormone deficiency Exostoses Neoplasm of the central nervous system Thick nasal alae Enlarged polycystic ovaries Asymmetric growth Asymmetry of the thorax Vascular skin abnormality Thrombophlebitis Venous malformation Long penis Epibulbar dermoid Nephrogenic diabetes insipidus Keloids Upper limb asymmetry Distal arthrogryposis Lymphangioma Visceral angiomatosis Myofibrillar myopathy Metatarsus valgus Deep venous thrombosis Papilledema Capillary hemangioma Spinal cord compression Abnormality of finger Abnormality of the wrist Macroorchidism Varicose veins Buphthalmos Arteriovenous malformation Lower limb asymmetry Abnormality of the neck Hemihypertrophy Anisocytosis Arterial thrombosis Epidermal nevus Calvarial hyperostosis Hepatic steatosis Hypertrophic cardiomyopathy Midface retrusion Dementia Narrow mouth Dyspnea Osteopenia Conductive hearing impairment Stroke Short nose Microtia Dilated cardiomyopathy Hypermetropia Delayed puberty Infertility Thin vermilion border Malar flattening Mandibular hyperostosis Portal vein thrombosis Retinal hamartoma Macrodactyly Sirenomelia Narrow internal auditory canal Facial hyperostosis Nevus sebaceous Thymus hyperplasia Bronchogenic cyst Hypertrophy of skin of soles Retinal nonattachment Abnormal subcutaneous fat tissue distribution Neoplasm of the thymus Central heterochromia Connective tissue nevi Depigmentation/hyperpigmentation of skin Exocrine pancreatic insufficiency Wide nasal bridge Esophageal atresia Abnormality of the fingernails Alopecia universalis Trichorrhexis nodosa Amniotic constriction ring Subungual hyperkeratosis Hypergranulosis Ankylosis Parakeratosis Curly hair Anhidrosis Mutism Cutis laxa Opacification of the corneal stroma Inflammatory abnormality of the skin Plantar hyperkeratosis Ectodermal dysplasia Pruritus Papule Corneal opacity Cold-induced sweating Unexplained fevers Excessive salivation Trismus Thoracolumbar scoliosis Opisthotonus 2-3 toe syndactyly Radial deviation of finger Cubitus valgus Abnormal cornea morphology Abnormal oral mucosa morphology Abnormal autonomic nervous system physiology Arthritis Macule Aplasia/Hypoplasia of the eyebrow Hypoplastic toenails Absent eyebrow Keratitis Congenital sensorineural hearing impairment Urticaria Conjunctivitis Knee flexion contracture Progressive visual loss Severe global developmental delay Scarring Photophobia Abnormality of the gingiva Pes cavus Cerebellar hypoplasia Blindness Cryptorchidism Anal fissure Skin fissure Circumungual hyperkeratosis Agenesis of premolar Ainhum Foot pain Autoamputation Hidrotic ectodermal dysplasia Palmoplantar hyperhidrosis Poor suck Sensorimotor neuropathy Severe hearing impairment Desmoid tumors Spastic paraparesis Paraparesis Paraplegia Spastic paraplegia Abnormal pyramidal sign Coarse facial features Agenesis of corpus callosum Intellectual disability, severe Hydrocephalus Ventriculomegaly Spasticity Generalized hypotonia Abdominal mass Increased intracranial pressure Epidermoid cyst Fibroma Neoplasm of the breast Abnormality of the abdominal wall Abnormality of the upper urinary tract Intestinal polyposis Abnormality of the musculature Colon cancer Intestinal obstruction Sepsis Hydronephrosis Myalgia Arthralgia Holoprosencephaly Adducted thumb Full cheeks Hepatocellular carcinoma Abnormality of the foot Protruding ear Feeding difficulties in infancy Camptodactyly Apnea Facial palsy Long philtrum Feeding difficulties High palate Muscle weakness Fulminant hepatic failure Thoracic kyphoscoliosis Thoracic kyphosis Triangular face Absent septum pellucidum Single transverse palmar crease Bulbous nose Hepatic failure Prominent nasal bridge Deeply set eye Pes planus Pectus excavatum Frontal bossing Noncommunicating hydrocephalus Corticospinal tract hypoplasia Flexion contracture of thumb Clear cell renal cell carcinoma Aqueductal stenosis Cellulitis Abnormal eyelash morphology Hypoplasia of the odontoid process Thrombocytopenia Neutropenia Short palm Joint hypermobility Micromelia Joint hyperflexibility Arthrogryposis multiplex congenita Pectus carinatum Abnormal cardiac septum morphology Low-set, posteriorly rotated ears EEG abnormality Brachycephaly Pneumonia Diarrhea Lymphoma Short neck Respiratory insufficiency Hepatomegaly Epicanthus Anemia Muscular hypotonia Acral lentiginous melanoma Aplasia/Hypoplasia of the testes Neoplasm of the oral cavity Premature arteriosclerosis Gastrointestinal carcinoma Neoplasm of the small intestine Subcutaneous calcification Postural instability Abnormality of the ribs Abnormal hair whorl Genu varum Anal stenosis Hodgkin lymphoma Macrocytic anemia Metaphyseal dysplasia High hypermetropia Abnormality of the hip bone Tibial bowing Basal cell carcinoma Femoral bowing Mesomelia Short thorax Cone-shaped epiphysis Portal hypertension Abnormality of pelvic girdle bone morphology Blue sclerae Disproportionate short-limb short stature Sacral dimple Abnormal palate morphology Accelerated skeletal maturation Hypocalcemia Short ribs Gingival overgrowth Rhizomelia Abnormality of epiphysis morphology Bronchiectasis Bowing of the long bones Abnormality of the metaphysis Depressed nasal ridge Poliosis Soft tissue sarcoma Corneal erosion Behavioral abnormality Narrow face Abnormality of the hair Sparse scalp hair Type II diabetes mellitus Decreased testicular size Coma Nephropathy Retinal degeneration Retinopathy Micropenis Diabetes mellitus Rod-cone dystrophy Abnormality of corneal stroma Spontaneous abortion Trichiasis Moderate hearing impairment Corneal ulceration Recurrent bacterial skin infections Corneal scarring Keratoconjunctivitis Squamous cell carcinoma of the skin Recurrent corneal erosions Corneal neovascularization Dystrophic fingernails Hypoplastic fingernail Furrowed tongue Dystrophic toenail Hoarse voice Type I diabetes mellitus Chorioretinitis Prematurely aged appearance Cutaneous melanoma Thyroid carcinoma White forelock Slender build Abnormality of the testis Chondrocalcinosis Peripheral arterial stenosis Abnormality of the cerebral vasculature Osteosarcoma Renal neoplasm Progeroid facial appearance Pulmonary artery stenosis Premature loss of teeth Secondary amenorrhea Macular degeneration Myeloid leukemia Telangiectasia of the skin Aplasia/Hypoplasia of the skin Decreased fertility Polyphagia Polyuria Rocker bottom foot Polydipsia Myelodysplasia Abnormality of the voice Sarcoma Laryngomalacia Breast carcinoma Tapering pointed ends of distal finger phalanges



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Intrauterine growth retardation and Pulmonary arterial hypertension, related diseases and genetic alterations Tremor and Cerebellar vermis hypoplasia, related diseases and genetic alterations Cognitive impairment and Rheumatoid arthritis, related diseases and genetic alterations Cleft palate and Broad forehead, related diseases and genetic alterations Hypertelorism and Low-set, posteriorly rotated ears, related diseases and genetic alterations Anemia and Hypertonia, related diseases and genetic alterations Seizures and Muscular dystrophy, related diseases and genetic alterations

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