Carcinoma, and Difficulty walking

Diseases related with Carcinoma and Difficulty walking

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


Top matches:

High match ATAXIA-TELANGIECTASIA


Ataxia-telangiectasia is the association of severe combined immunodeficiency (affecting mainly the humoral immune response) with progressive cerebellar ataxia. It is characterised by neurological signs, telangiectasias, increased susceptibility to infections and a higher risk of cancer.

ATAXIA-TELANGIECTASIA Is also known as at1|louis-bar syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about ATAXIA-TELANGIECTASIA

Medium match FABRY DISEASE


Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations.

FABRY DISEASE Is also known as ceramide trihexosidase deficiency|hereditary dystopic lipidosis|fd|alpha-galactosidase a deficiency|diffuse angiokeratoma|gla deficiency|angiokeratoma corporis diffusum|anderson-fabry disease

Related symptoms:

  • Seizures
  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment
  • Pain


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about FABRY DISEASE

Medium match RENAL CELL CARCINOMA, NONPAPILLARY; RCC


The Heidelberg histologic classification of renal cell tumors subdivides renal cell tumors into benign and malignant parenchymal neoplasms and, where possible, limits each subcategory to the most common documented genetic abnormalities (Kovacs et al., 1997). Malignant tumors are subclassified into common or conventional renal cell carcinoma (clear cell); papillary renal cell carcinoma; chromophobe renal cell carcinoma; collecting duct carcinoma, with medullary carcinoma of the kidney; and unclassified renal cell carcinoma. The common or conventional type accounts for about 75% of renal cell neoplasms and is characterized genetically by a highly specific deletion of chromosome 3p. Papillary renal cell carcinoma (see {605074}) accounts for about 10% of renal cell tumors. Chromophobe renal cell carcinoma accounts for approximately 5% of renal cell neoplasms. Genetically, chromophobe RCC is characterized by a combination of loss of heterozygosity of chromosomes 1, 2, 6, 10, 13, 17, and 21 and hypodiploid DNA content. Collecting duct carcinoma accounts for about 1% of renal cell carcinoma.Renal cell carcinoma occurs nearly twice as often in men as in women; incidence in the United States is equivalent among whites and blacks. Cigarette smoking doubles the likelihood of renal cell carcinoma and contributes to as many as one-third of cases. Obesity is also a risk factor, particularly in women. Other risk factors include hypertension, unopposed estrogen therapy, and occupational exposure to petroleum products, heavy metals, or asbestos (summary by Motzer et al., 1996). Genetic Heterogeneity of Renal Cell CarcinomaGermline mutation resulting in nonpapillary renal cell carcinoma of the clear cell and chromophobe type occurs in the HNF1A gene (OMIM ) and the HNF1B gene (OMIM ).Somatic mutations in renal cell carcinomas occur in the VHL gene (OMIM ), the TRC8 gene (OMIM ), the OGG1 gene (OMIM ), the ARMET gene (OMIM ), the FLCN gene (OMIM ), and the BAP1 gene (OMIM ).See also RCCX1 (OMIM ) for a discussion of renal cell carcinoma associated with translocations of chromosome Xp11.2 involving the TFE3 gene (OMIM ).For a discussion of papillary renal cell carcinoma, see RCCP1 (OMIM ). Occurrence of Renal Cell Carcinoma in Other DisordersVon Hippel-Lindau syndrome (OMIM ) is a familial multicancer syndrome in which there is a susceptibility to a variety of neoplasms, including renal cell carcinoma of clear cell histology and renal cysts. A syndrome of predisposition to uterine leiomyomas and papillary renal cell carcinoma has been reported (OMIM ). Medullary carcinoma of the kidney is believed to arise from the collecting ducts of the renal medulla and is associated with sickle cell trait (OMIM ) (Kovacs et al., 1997). Renal cell carcinoma occurs in patients with the Birt-Hogg-Dube syndrome (OMIM ).Bertolotto et al. (2011) identified a missense mutation in the MITF (OMIM ) gene that increases the risk of renal cell carcinoma with or without malignant melanoma (CMM8 ).

RENAL CELL CARCINOMA, NONPAPILLARY; RCC Is also known as hypernephroma|adenocarcinoma of kidney

Related symptoms:

  • Neoplasm
  • Hypertension
  • Obesity
  • Carcinoma
  • Falls


SOURCES: OMIM ORPHANET MENDELIAN

More info about RENAL CELL CARCINOMA, NONPAPILLARY; RCC

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Other less relevant matches:

Medium match ABETALIPOPROTEINEMIA


Abetalipoproteinemia/ homozygous familial hypobetalipoproteinemia (ABL/HoFHBL) is a severe form of familial hypobetalipoproteinemia (see this term) characterized by permanently low levels (below the 5th percentile) of apolipoprotein B and LDL cholesterol, and by growth delay, malabsorption, hepatomegaly, and neurological and neuromuscular manifestations.

ABETALIPOPROTEINEMIA Is also known as hypobetalipoproteinemia, normotriglyceridemic|fhbl|hypobetalipoproteinemia, familial|acanthocytosis with hypobetalipoproteinemia|homozygous familial hypobetalipoproteinemia|bassen-kornzweig disease

Related symptoms:

  • Global developmental delay
  • Ataxia
  • Muscular hypotonia
  • Anemia
  • Visual impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about ABETALIPOPROTEINEMIA

Medium match LYNCH SYNDROME


LYNCH SYNDROME Is also known as coca2|colon cancer, familial nonpolyposis, type 2|fcc2

Related symptoms:

  • Seizures
  • Neoplasm
  • Muscular hypotonia
  • Flexion contracture
  • Visual impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about LYNCH 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

Low match NEUROFIBROMATOSIS, FAMILIAL SPINAL


Spinal neurofibromatosis is an autosomal dominant disorder characterized by a high load of spinal tumors. These tumors may be asymptomatic or result in neurologic symptoms, including back pain, difficulty walking, and paresthesias. Spinal NF is considered to be a subtype of neurofibromatosis type I (NF1 ), which is an allelic disorder. Patients with spinal NF may or may not have the classic cutaneous cafe-au-lait pigmentary macules or ocular Lisch nodules typically observed in patients with classic NF1. Patients with spinal NF should be followed closely for spinal sequelae (summary by Burkitt Wright et al., 2013).

NEUROFIBROMATOSIS, FAMILIAL SPINAL Is also known as fsnf

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Neoplasm
  • Pain
  • Difficulty walking


SOURCES: MESH OMIM MENDELIAN

More info about NEUROFIBROMATOSIS, FAMILIAL SPINAL

Low match HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2; CHNG2


In 80 to 85% of cases, congenital hypothyroidism is associated with, and presumably is a consequence of, thyroid dysgenesis (Macchia et al., 1998). In these cases, the thyroid gland can be absent (agenesis), ectopically located, and/or severely reduced in size (hypoplasia). When thyroid hormone therapy is not initiated within the first 2 months of life, congenital hypothyroidism can cause severe neurologic, mental, and motor damage (cretinism).

HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2; CHNG2 Is also known as rtsh|thyroid agenesis|thyrotropin resistance|resistance to thyrotropin|thyroid, ectopic|hypothyroidism, athyreotic|athyreotic hypothyroidism|hypothyroidism, congenital, due to thyroid dysgenesis|thyroid hypoplasia|thyroid dysgenesis

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Growth delay
  • Muscular hypotonia


SOURCES: OMIM MENDELIAN

More info about HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2; CHNG2

Low 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

Low match ADRENOCORTICAL CARCINOMA


Adrenocortical carcinoma (ACC) is a cancer that arises from the adrenal cortex.

Related symptoms:

  • Neoplasm
  • Muscle weakness
  • Pain
  • Hypertension
  • Abnormality of metabolism/homeostasis


SOURCES: OMIM ORPHANET MENDELIAN

More info about ADRENOCORTICAL CARCINOMA

Top 5 symptoms//phenotypes associated to Carcinoma and Difficulty walking

Symptoms // Phenotype % cases
Neoplasm Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Renal cell carcinoma Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Carcinoma and Difficulty walking. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Hypertension Pain Anxiety Flexion contracture Gait disturbance Muscular hypotonia Malabsorption Abdominal pain Constipation Delayed puberty Paresthesia Scoliosis Anemia Cognitive impairment Peripheral neuropathy

Rare Symptoms - Less than 30% cases


Hearing impairment Behavioral abnormality Congestive heart failure Diarrhea Cardiomyopathy Fatigue Fever Muscle weakness Cataract Spasticity Sensorineural hearing impairment Skeletal muscle atrophy Midface retrusion Macrocephaly Mucosal telangiectasiae Aminoaciduria Growth delay Paraparesis Spastic paraparesis Conjunctival telangiectasia Renal neoplasm Generalized hypotonia Hepatocellular carcinoma Telangiectasia of the skin Multiple cafe-au-lait spots Dilatation Strabismus Depressivity Nausea and vomiting Bradycardia Hypohidrosis Left ventricular hypertrophy Palpitations Myocardial infarction Abnormality of the cardiovascular system Chest pain Abdominal distention Heart murmur Growth hormone deficiency Nystagmus Transient ischemic attack Stroke Developmental regression Hypertrophic cardiomyopathy Joint stiffness Coarse facial features Dyspnea Hypothyroidism Abnormal EKG Failure to thrive Hyperhidrosis Increased intracranial pressure Hemiplegia/hemiparesis Angina pectoris Premature graying of hair Visual impairment Irritability Weight loss Abnormal vertebral morphology Cafe-au-lait spot Hepatic steatosis Lymphoma Abnormality of movement Reduced tendon reflexes Global developmental delay Neurological speech impairment Abnormality of the liver Clear cell renal cell carcinoma Diabetes mellitus Dysarthria Abnormal pyramidal sign Hyperlipidemia Breast carcinoma Ataxia Leiomyosarcoma Delayed eruption of teeth Hypertriglyceridemia Cardiomegaly Cyanosis Convex nasal ridge Nail dysplasia Burkitt lymphoma Limitation of joint mobility Hypodontia Migraine Basal cell carcinoma Thin vermilion border Gastrointestinal hemorrhage Infertility Narrow chest Carious teeth Hypotrichosis Small cell lung carcinoma Hypermetropia Visual field defect Dilated cardiomyopathy Cerebellar hemangioblastoma Hip dislocation Microtia Osteoarthritis Fibrosarcoma Thin skin Polycythemia Dermal atrophy Relative macrocephaly Hypercholesterolemia Memory impairment Acanthosis nigricans Melanoma Atherosclerosis Nephroblastoma Osteolysis Coxa valga Hypogonadotrophic hypogonadism Abnormal serum dehydroepiandrosterone level Hemangioblastoma Hypergonadotropic hypogonadism Increased bone mineral density Aspiration Aortic valve stenosis Sparse and thin eyebrow Retinoblastoma Insulin resistance Dental crowding Decreased body weight Broad-based gait Papillary renal cell carcinoma Sparse hair Conductive hearing impairment Colon cancer Micrognathia Alopecia Malar flattening Short nose Kyphosis Abnormality of the dentition Abnormality of the skeletal system Steatocystoma multiplex Hypertonia Prostate cancer Abnormal facial shape Dysgraphia Intestinal polyposis Urinary tract neoplasm Cardiac diverticulum Neoplasm of the rectum Amaurosis fugax Attention deficit hyperactivity disorder Abnormality of creatine metabolism Neoplasm of the skeletal system Benign neoplasm of the central nervous system Neoplasm of the thyroid gland Agnosia Glioblastoma multiforme Increased HDL cholesterol concentration Abetalipoproteinemia Pancreatic adenocarcinoma Peripheral demyelination Osteopenia Neuroblastoma Ovarian neoplasm Neoplasm of the pancreas Thrombocytopenia Rod-cone dystrophy Macrotia Retinal degeneration Hallucinations Dyskinesia Pituitary adenoma Proptosis Decreased LDL cholesterol concentration Narrow mouth Chronic diarrhea Abnormality of retinal pigmentation Abnormality of the coagulation cascade Hypogonadism Osteoporosis Acanthocytosis Prominent forehead Fat malabsorption Dementia Hypocholesterolemia Hepatic failure Fragile nails Nasal speech Macroglossia Large posterior fontanelle Thyroid agenesis Ectopic thyroid Hoarse cry Increased thyroid-stimulating hormone level Thyroid hypoplasia Hypothermia Congenital hypothyroidism Spondyloepiphyseal dysplasia Myotonia Stridor Goiter Hyperbilirubinemia Dry skin Thyroid hemiagenesis Lethargy Feeding difficulties in infancy Umbilical hernia Delayed skeletal maturation Symmetric spinal nerve root neurofibromas Spinal neurofibromas Plexiform neurofibroma Subcutaneous neurofibromas Spinal cord tumor Lisch nodules Progressive spastic paraparesis Schwannoma Freckling Neurofibromas Thyroid dysgenesis Ventriculomegaly Lower limb muscle weakness Striae distensae Paradoxical increased cortisol secretion on dexamethasone suppression test Abnormality of reproductive system physiology Increased serum estradiol Abnormality of urine homeostasis Increased circulating androgen level Panic attack Increased urinary cortisol level Lung adenocarcinoma Adrenocortical carcinoma Pollakisuria Adrenocorticotropic hormone deficiency Hyperaldosteronism Increased circulating cortisol level Hypokalemia Hydrocephalus Increased body weight Hypertrichosis Abnormality of metabolism/homeostasis Noncommunicating hydrocephalus Corticospinal tract hypoplasia Flexion contracture of thumb Aqueductal stenosis Absent septum pellucidum Adducted thumb Holoprosencephaly Paraplegia Spastic paraplegia Agenesis of corpus callosum Intellectual disability, severe Back pain Tapering pointed ends of distal finger phalanges Intracranial hemorrhage Alopecia of scalp Aplasia/Hypoplasia of the earlobes Falls Small face Generalized osteoporosis Lack of skin elasticity Prominent superficial veins Osteolytic defects of the phalanges of the hand Ovoid vertebral bodies Hyperphosphatemia Down-sloping shoulders Elevated serum 11-deoxycortisol Absent eyelashes Thrombocytosis Short clavicles Enlarged joints Hypoplastic nipples Keratoconjunctivitis sicca Thin ribs Scleroderma Lipoatrophy Exertional dyspnea Prolonged QT interval High pitched voice Multiple joint contractures Abnormality of the thorax Metaphyseal widening Premature ovarian insufficiency Hyperinsulinemia Lipodystrophy Precocious atherosclerosis Thin bony cortex Arteriosclerosis of small cerebral arteries Mitral valve calcification Regional abnormality of skin Abnormal trabecular bone morphology Insulin-resistant diabetes mellitus at puberty Absence of pubertal development Carotid artery stenosis Narrow nasal tip Bilateral coxa valga Craniofacial disproportion Old-aged sensorineural hearing impairment Reticulated skin pigmentation Hypoplastic facial bones Prominent scalp veins Bird-like facies Parietal bossing Decreased serum estradiol Widely patent fontanelles and sutures Intermittent claudication Corneal arcus Sinus tachycardia Decreased testosterone in males Premature coronary artery atherosclerosis Thin nail Absence of subcutaneous fat Hip pain Aplastic clavicle Narrow nasal ridge Arteriosclerosis Carcinoid tumor Prolonged prothrombin time Renal cyst Retinal vascular tortuosity Obesity IgE deficiency Myalgia Arthralgia Mandibular prognathia Hyperkeratosis Posteriorly rotated ears Arrhythmia Headache Renal insufficiency Vomiting Edema Respiratory insufficiency Optic atrophy Defective B cell differentiation Interosseus muscle atrophy Proteinuria Decreased/absent ankle reflexes Immunoglobulin IgG2 deficiency Progressive spinal muscular atrophy Non-Hodgkin lymphoma Aplasia/Hypoplasia of the thymus Increased sensitivity to ionizing radiation Female hypogonadism Chronic hepatitis Decreased proportion of CD4-positive T cells Elevated alpha-fetoprotein Abnormal spermatogenesis Neoplasm of the breast Chronic myelogenous leukemia Arthritis Abnormality of the nervous system Cellular immunodeficiency Nephropathy Subcutaneous nodule Abnormal lung morphology Mitral regurgitation Atrial fibrillation Thick lower lip vermilion Ventricular hypertrophy Nephrotic syndrome Mitral valve prolapse Hypotension Urinary incontinence Syncope Sudden cardiac death Muscle cramps Hematuria Abnormality of the kidney Thick vermilion border Thick eyebrow Bulbous nose Tachycardia Nausea Stage 5 chronic kidney disease Vertigo Abnormality of the cerebral white matter Pruritus Papule Corneal opacity Prominent nasal bridge Cough Skin rash Abnormality of chromosome stability Chronic lymphatic leukemia Lymphedema Unsteady gait Telangiectasia Choreoathetosis Intention tremor Pancytopenia Type II diabetes mellitus Apraxia Hepatitis Decreased antibody level in blood Chorea Progressive cerebellar ataxia Abnormal cerebellum morphology Polyneuropathy Distal amyotrophy Abnormality of eye movement Limb ataxia Leukemia Distal muscle weakness Respiratory tract infection Elevated hepatic transaminase Gait ataxia Myoclonus Recurrent respiratory infections Pneumonia Recurrent infections Immunodeficiency Dystonia Cerebellar atrophy Tremor Microcephaly Bronchiectasis Sinusitis Hypoplasia of the thymus Prematurely aged appearance Absent Achilles reflex Spinocerebellar tract degeneration Lymphoproliferative disorder Abnormality of the testis B-cell lymphoma Recurrent bronchitis Chromosome breakage Recurrent lower respiratory tract infections Severe combined immunodeficiency Acute lymphoblastic leukemia Hypopigmentation of hair Hodgkin lymphoma IgA deficiency Myeloid leukemia Lymphopenia Abnormality of the immune system Aplasia/Hypoplasia of the skin Resting tremor Combined immunodeficiency Glucose intolerance Athetosis Spinal muscular atrophy Polycystic ovaries Slurred speech Cerebral palsy Oculomotor apraxia Recurrent pneumonia Truncal ataxia Abnormality of the hair Anorexia Fasciculations Cornea verticillata Abnormal cornea morphology Nephrogenic diabetes insipidus Abnormality of temperature regulation Limb pain Corneal crystals Vascular skin abnormality Decreased female libido Abnormality of cardiovascular system physiology Abnormal endocardium morphology Biventricular hypertrophy Primary hypothyroidism Microalbuminuria Supraventricular arrhythmia Dysesthesia Abnormality of the renal tubule Vascular tortuosity Abnormal thrombosis Tubulointerstitial fibrosis Chronic pain Abnormal renal physiology Miosis T-wave inversion Abnormal aortic valve morphology Gastrointestinal dysmotility Periorbital fullness Abnormal mitral valve morphology Asymmetric septal hypertrophy High-frequency hearing impairment Abnormal myocardium morphology Decreased glomerular filtration rate Distal renal tubular acidosis Abnormality of the nose Abnormality of glycosphingolipid metabolism Abnormal glomerular filtration rate Abnormality of the common coagulation pathway Increased glomerular filtration rate Increased carotid artery intimal medial thickness Abnormal ST segment Abnormal common carotid artery morphology Acroparesthesia Heavy proteinuria Tenesmus Left ventricular septal hypertrophy Tortuosity of conjunctival vessels Hyperkeratotic papule Abnormality of the forehead Impaired renal concentrating ability Increased blood urea nitrogen Functional abnormality of the gastrointestinal tract ST segment depression Unexplained fevers Concentric hypertrophic cardiomyopathy Coronary artery stenosis Shortened PR interval Decreased lacrimation Angiokeratoma corporis diffusum Shortened QT interval Hyposthenuria Impaired temperature sensation Obstructive lung disease Angiokeratoma Reduced sperm motility Restrictive cardiomyopathy Abnormality of femur morphology Abnormal autonomic nervous system physiology Prominent supraorbital ridges Loss of consciousness Emphysema Anhidrosis Polyuria Diabetes insipidus Tricuspid regurgitation Impaired vibratory sensation Clubbing Personality changes Polydipsia Glomerulosclerosis Hemiplegia Abnormality of the hand Chronic kidney disease Impotence Atrioventricular block Easy fatigability Tinnitus Ventricular arrhythmia Reduced bone mineral density Ischemic stroke Corneal dystrophy Progressive hearing impairment Abnormal intestine morphology Aortic regurgitation Ventricular tachycardia Purpura Exercise intolerance Spontaneous abortion Bundle branch block Coronary artery atherosclerosis Chronic fatigue Elevated serum creatinine Myocardial fibrosis Sinus bradycardia Achalasia Chronic obstructive pulmonary disease Clubbing of fingers Peripheral arterial stenosis Reduced ejection fraction Heat intolerance Supraventricular tachycardia Large earlobe Oligospermia Abnormality of the gastrointestinal tract Tubular atrophy Tubulointerstitial nephritis Elevated erythrocyte sedimentation rate Edema of the lower limbs Renal tubular dysfunction Xerostomia Abnormality of lipid metabolism Aortic root aneurysm Wheezing Renal tubular acidosis Glycosuria Abnormal heart valve morphology Glomerulopathy Celiac disease Orthostatic hypotension Progressive sensorineural hearing impairment Interstitial pulmonary abnormality Increased serum androstenedione



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