Congestive heart failure, and Neutropenia

Diseases related with Congestive heart failure and Neutropenia

In the following list you will find some of the most common rare diseases related to Congestive heart failure and Neutropenia that can help you solving undiagnosed cases.


Top matches:

Medium match WHIM SYNDROME


WHIM (warts, hypogammaglobulinemia, infections, and myelokathexis) syndrome is a congenital autosomal dominant immune deficiency characterized by abnormal retention of mature neutrophils in the bone marrow (myelokathexis) and occasional hypogammaglobulinemia, associated with an increased risk for bacterial infections and a susceptibility to human papillomavirus (HPV) induced lesions (cutaneous warts, genital dysplasia and invasive mucosal carcinoma).

WHIM SYNDROME Is also known as warts, hypogammaglobulinemia, infections, and myelokathexis syndrome|warts-infections-leukopenia-myelokatexis syndrome|wilm|warts-hypogammaglobulinemia-infections-myelokathexis syndrome

Related symptoms:

  • Hearing impairment
  • Neoplasm
  • Fever
  • Congestive heart failure
  • Immunodeficiency


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about WHIM SYNDROME

Medium match COMBINED IMMUNODEFICIENCY DUE TO LRBA DEFICIENCY


Common variable immunodeficiency-8 with autoimmunity is an autosomal recessive disorder of immune dysregulation. Affected individuals have early childhood onset of recurrent infections, particularly respiratory infections, and also develop variable autoimmune disorders, including idiopathic thrombocytopenic purpura, autoimmune hemolytic anemia, and inflammatory bowel disease. The presentation and phenotype are highly variable, even within families (summary by Lopez-Herrera et al., 2012 and Alangari et al., 2012). Immunologic findings are also variable and may include decreased B cells, hypogammaglobulinemia, and deficiency of CD4+ T regulatory (Treg) cells (Charbonnier et al., 2015).For a general description and a discussion of genetic heterogeneity of common variable immunodeficiency, see CVID1 (OMIM ).

COMBINED IMMUNODEFICIENCY DUE TO LRBA DEFICIENCY Is also known as cid due to lrba deficiency

Related symptoms:

  • Growth delay
  • Neoplasm
  • Failure to thrive
  • Anemia
  • Diarrhea


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO LRBA DEFICIENCY

Medium match THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME


Thiamine-responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness.

THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME Is also known as thmd1|trma|thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness|rogers syndrome|thiamine-responsive myelodysplasia|thiamine metabolism dysfunction syndrome 1 (megaloblastic anemia, diabetes mellitus, and deafness type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME

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Other less relevant matches:

Medium match AUTOIMMUNE ENTEROPATHY AND ENDOCRINOPATHY-SUSCEPTIBILITY TO CHRONIC INFECTIONS SYNDROME


Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome is an extremely rare, autosomal dominant immunological disorder characterized by variable enteropathy, endocrine disorders (e.g. type 1 diabetes mellitus, hypothyroidism), immune dysregulation with pulmonary and blood-borne bacterial infections, and fungal infections (chronic mucocutaneous candidiasis) developing in infancy. Other manifestations include short stature, eczema, hepatosplenomegaly, delayed puberty, and osteoporosis/osteopenia.

AUTOIMMUNE ENTEROPATHY AND ENDOCRINOPATHY-SUSCEPTIBILITY TO CHRONIC INFECTIONS SYNDROME Is also known as candf7|candidiasis, familial, 7|candidiasis, familial chronic mucocutaneous, autosomal dominant

Related symptoms:

  • Global developmental delay
  • Short stature
  • Growth delay
  • Anemia
  • Diarrhea


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOIMMUNE ENTEROPATHY AND ENDOCRINOPATHY-SUSCEPTIBILITY TO CHRONIC INFECTIONS SYNDROME

Low match BARTH SYNDROME


Barth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay and organic aciduria.

BARTH SYNDROME Is also known as bths|3-methylglutaconic aciduria type 2|mgca2|x-linked cardioskeletal myopathy and neutropenia|cardioskeletal myopathy with neutropenia and abnormal mitochondria|mga2|mga, type ii|cardioskeletal myopathy-neutropenia syndrome|3-methylglutaconic aciduria, t

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about BARTH SYNDROME

Low match DK1-CDG


DK1-CDG is characterised by muscular hypotonia and ichthyosis. It has been described in four children from two consanguineous families. All the affected children died during early infancy, two from dilated cardiomyopathy. The syndrome is caused by a deficiency in dolichol kinase 1 (DK1), an enzyme involved in the de novo biosynthesis of dolichol phosphate. The mutations identified in the DK1 gene led to a 96 to 98% reduction in DK activity.

DK1-CDG Is also known as cdg-im|cdg im|hypotonia and ichthyosis due to dolichol phosphate deficiency|cdg syndrome type im|congenital disorder of glycosylation type im|congenital disorder of glycosylation type 1m|cdgim|dk1 deficiency|cdg1m|carbohydrate deficient glycoprotein syndr

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Growth delay


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DK1-CDG

Low match DIAMOND-BLACKFAN ANEMIA 1; DBA1


Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. The main features are normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. Patients show growth retardation, and approximately 30 to 50% have craniofacial, upper limb, heart, and urinary system congenital malformations. The majority of patients have increased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F. However, some DBA patients do not exhibit these findings, and even in the same family, symptoms can vary between affected family members (summary by Landowski et al., 2013). Genetic Heterogeneity of Diamond-Blackfan AnemiaA locus for DBA (DBA2 ) has been mapped to chromosome 8p23-p22. Other forms of DBA include DBA3 (OMIM ), caused by mutation in the RPS24 gene (OMIM ) on 10q22; DBA4 (OMIM ), caused by mutation in the RPS17 gene (OMIM ) on 15q; DBA5 (OMIM ), caused by mutation in the RPL35A gene (OMIM ) on 3q29; DBA6 (OMIM ), caused by mutation in the RPL5 gene (OMIM ) on 1p22.1; DBA7 (OMIM ), caused by mutation in the RPL11 gene (OMIM ) on 1p36; DBA8 (OMIM ), caused by mutation in the RPS7 gene (OMIM ) on 2p25; DBA9 (OMIM ), caused by mutation in the RPS10 gene (OMIM ) on 6p; DBA10 (OMIM ), caused by mutation in the RPS26 (OMIM ) gene on 12q; DBA11 (OMIM ), caused by mutation in the RPL26 gene (OMIM ) on 17p13; DBA12 (OMIM ), caused by mutation in the RPL15 gene (OMIM ) on 3p24; DBA13 (OMIM ), caused by mutation in the RPS29 gene (OMIM ) on 14q; DBA14 (OMIM ), caused by mutation in the TSR2 gene (OMIM ) on Xp11; DBA15 (OMIM ), caused by mutation in the RPS28 gene (OMIM ) on 19p13; DBA16 (OMIM ), caused by mutation in the RPL27 gene (OMIM ) on chromosome 17q21; and DBA17 (OMIM ), caused by mutation in the RPS27 gene (OMIM ) on chromosome 1q21.Boria et al. (2010) reviewed the molecular basis of Diamond-Blackfan anemia, emphasizing that it is a disorder of defective ribosome synthesis.Gazda et al. (2012) completed a large-scale screen of 79 ribosomal protein genes in families with Diamond-Blackfan anemia and stated that of the 10 known DBA-associated genes, RPS19 accounts for approximately 25% of patients; RPS24, 2%; RPS17, 1%; RPL35A, 3.5%; RPL5, 6.6%; RPL11, 4.8%; RPS7, 1%; RPS10, 6.4%; RPS26, 2.6%; and RPL26, 1%. Gazda et al. (2012) stated that in total these mutations account for approximately 54% of all DBA patients.In a study of 98 Japanese patients with DBA, Wang et al. (2015) detected probable causative mutations or large deletions in ribosomal protein genes in 56 (55%) of the patients, involving the RPS19 gene in 16 patients, RPL5 in 12, RPS17 in 7, RPL35A in 7, RPL11 in 5, and RPS26 in 4; RPS7, RPS10, RPL27, and RPS27 were each mutated in 1 patient.

DIAMOND-BLACKFAN ANEMIA 1; DBA1 Is also known as red cell aplasia, pure, hereditary|anemia, congenital erythroid hypoplastic|dba|blackfan-diamond syndrome|anemia, congenital hypoplastic, of blackfan and diamond|bds|erythrogenesis imperfecta|aase-smith syndrome ii|aregenerative anemia, chronic congenital

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Growth delay
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about DIAMOND-BLACKFAN ANEMIA 1; DBA1

Low match METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCC


Combined methylmalonic aciduria (MMA) and homocystinuria is a genetically heterogeneous disorder of cobalamin (cbl; vitamin B12) metabolism. The defect causes decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results in decreased activity of the respective enzymes methylmalonyl-CoA mutase (MUT ) and methyltetrahydrofolate:homocysteine methyltransferase, also known as methionine synthase (MTR ). Different forms of the disorder have been classified according to complementation groups of cells in vitro: cblC, cblD (OMIM ), cblF (OMIM ), and cblJ (OMIM ).Isolated methylmalonic acidurias have also been classified by complementation groups: MMA 'mut' (OMIM ) is caused by mutation in the MUT gene on chromosome 6p21; MMA cblA (OMIM ) is caused by mutation in the MMAA gene (OMIM ) on 4q31; and MMA cblB (OMIM ) is caused by mutation in the MMAB gene (OMIM ) on 12q24.Methylmalonic aciduria and homocystinuria, cblC type, is the most common inborn error of vitamin B12 (cobalamin) metabolism, with about 250 known cases (Lerner-Ellis et al., 2006). Affected individuals may have developmental, hematologic, neurologic, metabolic, ophthalmologic, and dermatologic clinical findings. Although considered a disease of infancy or childhood, some individuals develop symptoms in adulthood (Rosenblatt et al., 1997).

METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCC Is also known as vitamin b12 metabolic defect with combined deficiency of methylmalonyl-coa mutase and homocysteine:methyltetrahydrofolate methyltransferase|methylmalonic aciduria and homocystinuria, vitamin b12-responsive|methylmalonic acidemia and homocystinuria, cblc t

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCC

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 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

Top 5 symptoms//phenotypes associated to Congestive heart failure and Neutropenia

Symptoms // Phenotype % cases
Growth delay Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Anemia Common - Between 50% and 80% cases
Thrombocytopenia Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Congestive heart failure and Neutropenia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Failure to thrive

Uncommon Symptoms - Between 30% and 50% cases


Cardiomyopathy Pneumonia Seizures Immunodeficiency Recurrent infections Diarrhea Nystagmus Microcephaly Dilatation Generalized hypotonia Muscle weakness Intellectual disability Lethargy Hearing impairment Pancytopenia Combined immunodeficiency Muscular hypotonia Aciduria Diabetes mellitus Acidosis Lymphopenia Autoimmunity Respiratory tract infection Hemolytic anemia Inflammatory abnormality of the skin Arthritis Lymphoma Decreased antibody level in blood Bronchiectasis Cerebral cortical atrophy Renal insufficiency Motor delay Dilated cardiomyopathy Feeding difficulties in infancy Recurrent respiratory infections Hypothyroidism Villous atrophy Respiratory failure Abnormal heart morphology Arrhythmia Abnormal facial shape Hypoglycemia Stroke Osteopenia Sepsis Recurrent upper respiratory tract infections Recurrent bacterial infections

Rare Symptoms - Less than 30% cases


Abnormal immunoglobulin level Edema Respiratory distress Fatigue Peripheral neuropathy Myelodysplasia Depressed nasal bridge Pulmonary arterial hypertension Hyperglycemia Cerebellar atrophy Chronic mucocutaneous candidiasis Encephalitis Eczema Megaloblastic anemia Heterotopia Cellular immunodeficiency Delayed puberty Macrocytic anemia Abnormality of skin pigmentation Myopathy Short neck Congenital cataract Hip dislocation Proteinuria Dementia Hypertension Feeding difficulties Low-set ears Cataract Bone marrow hypocellularity Premature birth Cleft upper lip Cleft lip Vomiting Nephropathy Abnormality of retinal pigmentation Macrotia Aspiration Hypertrophic cardiomyopathy Hydrops fetalis Granulocytopenia Strabismus Malabsorption Cognitive impairment Leukopenia Atherosclerosis Neurodevelopmental delay Hypertelorism Micrognathia Cleft palate High palate Neoplasm Anorexia Intrauterine growth retardation B-cell lymphoma Otitis media Ventricular septal defect Optic atrophy Sensorineural hearing impairment Ataxia Gastritis Abnormal intestine morphology Cor pulmonale Recurrent urinary tract infections Autoimmune thrombocytopenia Headache Splenomegaly Hepatosplenomegaly Abnormal lung morphology Type I diabetes mellitus Fever Autoimmune hemolytic anemia Purpura Carcinoma Inflammation of the large intestine Atrial septal defect Immune dysregulation Paresthesia Retinal degeneration Abnormal cardiac septum morphology IgG deficiency Pallor Verrucae Urinary incontinence Brain atrophy Intellectual disability, profound Lumbar hyperlordosis Nephrotic syndrome Microdontia Decreased testicular size Waddling gait Migraine Bulbous nose Gliosis Abnormal cerebellum morphology Fine hair Stage 5 chronic kidney disease Astigmatism Platyspondyly Corneal opacity Scarring Hyperlordosis Cellulitis Periodontitis Abnormality of epiphysis morphology Abnormal form of the vertebral bodies Nephritis Glomerulopathy Multiple cafe-au-lait spots Steatorrhea Hypermelanotic macule High pitched voice Emphysema Focal segmental glomerulosclerosis Spondyloepiphyseal dysplasia Mental deterioration Melanocytic nevus Glomerulonephritis Carious teeth Epiphyseal dysplasia Glomerulosclerosis Chronic kidney disease Retinopathy Coarse hair Reduced bone mineral density Azoospermia Hyperlipidemia Opacification of the corneal stroma Lower limb muscle weakness Developmental regression Smooth philtrum Abnormality of the kidney Sinusitis Right ventricular failure Myelopathy Homocystinuria Methylmalonic aciduria Thromboembolism Disproportionate tall stature Apathy Ectopia lentis Hemiplegia Slurred speech Meningitis Atrophy of the spinal cord Broad-based gait Psychosis Long face Joint hypermobility Abnormality of extrapyramidal motor function Pigmentary retinopathy Leukocytosis Hematuria Hepatic steatosis Memory impairment Hemolytic-uremic syndrome Methylmalonic acidemia Metabolic acidosis Decreased methylmalonyl-CoA mutase activity Thin upper lip vermilion Kyphosis Abnormality of the dentition Confusion Myopia Scoliosis Thyroglossal cyst Cystathioninemia Unsteady gait Diffuse hepatic steatosis Osteomyelitis Chronic hemolytic anemia Hypomethioninemia Cystathioninuria Vitamin B12 deficiency Decreased methionine synthase activity Decreased adenosylcobalamin Hyperhomocystinemia Decreased methylcobalamin Urogenital fistula Delirium Abnormality of macular pigmentation Protuberant abdomen Retinal dystrophy Abnormality of the vasculature Bronchitis Ocular albinism Depressed nasal tip Severe failure to thrive Aspiration pneumonia Severe sensorineural hearing impairment Hypopigmentation of hair Optic neuropathy Abnormality of immune system physiology Renal tubular acidosis Centrally nucleated skeletal muscle fibers Macular atrophy Fair hair Albinism Congenital sensorineural hearing impairment Poor suck Adducted thumb Infantile muscular hypotonia Aplasia/Hypoplasia of the corpus callosum Increased body weight Progressive microcephaly Decreased liver function Decreased body weight Left ventricular hypertrophy Renal tubular dysfunction Hypoplasia of the pons Progressive neurologic deterioration Muscle flaccidity White matter neuronal heterotopia Severe T-cell immunodeficiency Penile hypospadias Immunoglobulin IgG2 deficiency Ureteral atresia Aplasia/Hypoplasia of the macula Decreased T cell activation Cutaneous anergy Frontoparietal polymicrogyria Schizencephaly Abnormal macular morphology Abnormality of the cerebellar vermis Abnormal cortical gyration Abnormality of the thymus Abnormality of the optic disc Recurrent aspiration pneumonia Decreased proportion of CD4-positive T cells Abnormality of the mandible Pontocerebellar atrophy Abnormal posturing Recurrent fungal infections Hypopigmentation of the fundus Hypoplasia of the thymus Recurrent viral infections Open mouth Cerebellar vermis hypoplasia Transient ischemic attack Multiple lentigines Spasticity Lateral displacement of the femoral head Nephrosclerosis Anterior pituitary dysgenesis Premature arteriosclerosis Moyamoya phenomenon Abnormal T cell morphology Encephalomalacia Increased thyroid-stimulating hormone level Shallow acetabular fossae Steroid-resistant nephrotic syndrome Mucopolysacchariduria Epicanthus Hypoplasia of the capital femoral epiphysis Arteriosclerosis Right ventricular cardiomyopathy Dentinogenesis imperfecta Difficulty walking Precocious atherosclerosis Cerebral ischemia Lymphoproliferative disorder Disproportionate short-trunk short stature Ovoid vertebral bodies Thoracic kyphosis Ptosis Hyperreflexia Ventricular hypertrophy Severe global developmental delay Hypotelorism Narrow forehead Delayed myelination Triangular face Hypopigmentation of the skin Sleep disturbance High, narrow palate Thick vermilion border Wide nose Pulmonary hypoplasia Polymicrogyria Joint stiffness Ventriculomegaly Postnatal growth retardation Muscular hypotonia of the trunk EEG abnormality Coarse facial features Rod-cone dystrophy Agenesis of corpus callosum Cerebellar hypoplasia Hypospadias Long philtrum Hypertonia Anteverted nares Subvalvular aortic stenosis Abnormality of female internal genitalia High forehead Lactic acidosis Easy fatigability Ventricular arrhythmia Hyperammonemia Exercise intolerance Spontaneous abortion Recurrent sinusitis Specific learning disability Round face Sudden cardiac death Full cheeks Talipes Myopathic facies Ophthalmoplegia IgA deficiency Broad forehead Protruding ear Fatigable weakness Facial palsy Proximal muscle weakness Deeply set eye Exocrine pancreatic insufficiency Chronic lung disease Mandibular prognathia Abnormality of mitochondrial metabolism Poor appetite Clubbing of fingers Prolonged QTc interval Colitis Intermittent lactic acidemia Recurrent infections in infancy and early childhood Increased mitochondrial number Cyclic neutropenia Agranulocytosis Abnormal mitochondrial shape Abnormal mitochondrial morphology Monocytosis Pyoderma Abnormal endocardium morphology Mitochondrial myopathy Abnormality of neutrophils 3-Methylglutaconic aciduria Hypocholesterolemia Abnormality of the mitochondrion Endocardial fibroelastosis Skeletal myopathy Left ventricular failure Recurrent aphthous stomatitis Decreased plasma carnitine Left ventricular noncompaction Organic aciduria Pectus excavatum Brain neoplasm Hepatomegaly Abdominal situs inversus Burkitt lymphoma Leukoencephalopathy Cryptorchidism Hepatitis Delayed skeletal maturation Thiamine-responsive megaloblastic anemia Paroxysmal atrial tachycardia Progressive peripheral neuropathy Sideroblastic anemia Abnormality of the basal ganglia Visual loss Thyroiditis Gastroesophageal reflux Secondary amenorrhea Polycystic ovaries Cone/cone-rod dystrophy Aminoaciduria Hoarse voice Cardiac arrest Situs inversus totalis Bilateral sensorineural hearing impairment Amenorrhea Abnormality of the skin Patent foramen ovale Pulmonary embolism Talipes equinovarus Functional abnormality of the bladder Gait disturbance IgM deficiency Interstitial pneumonitis Generalized lymphadenopathy Abnormal serum interferon-gamma level Medial calcification of large arteries Esophageal carcinoma Oropharyngeal squamous cell carcinoma Susceptibility to herpesvirus Recurrent Aspergillus infections Carotid artery dilatation Autoimmune neutropenia Hashimoto thyroiditis Renal artery stenosis Renovascular hypertension Antiphospholipid antibody positivity B lymphocytopenia Primary hypothyroidism Decrease in T cell count Enterocolitis Generalized osteoporosis Follicular hyperplasia Abnormality of the endocrine system Dilatation of the cerebral artery Interstitial pulmonary abnormality Clubbing Reduced visual acuity Absent thumb Reticulocytopenia Anemia of inadequate production Increased mean corpuscular volume Aplastic anemia 11 pairs of ribs Osteosarcoma Hypoplastic ilia Thrombocytosis Acute myeloid leukemia Myeloid leukemia Vertebral fusion Parietal foramina Colon cancer Congenital glaucoma Delayed cranial suture closure Triphalangeal thumb Abnormality of the hand Hypoplasia of the radius Abnormal dermatoglyphics Septic arthritis Short thumb Depressed nasal ridge Coarctation of aorta Unilateral cleft lip Congenital hypoplastic anemia Tonsillitis Abnormality of female external genitalia Gait ataxia Weight loss Depressivity Intellectual disability, severe Hydrocephalus Respiratory insufficiency Tremor Atelectasis Visual impairment Polyneuropathy Abnormality of bone marrow cell morphology Everted upper lip vermilion Folliculitis Hypoplastic sacral vertebrae Hypoplastic coccygeal vertebrae Transient erythroblastopenia Bifid thoracic vertebrae Elevated red cell adenosine deaminase activity Hypoplastic anemia Persistence of hemoglobin F Branchial cyst Erythroid hypoplasia Partial duplication of thumb phalanx Webbed neck Nausea Absent speech Thin skin Erythroderma Sacral dimple Ventricular tachycardia Conjunctivitis Severe muscular hypotonia Sparse eyelashes Recurrent pneumonia Bradycardia Sparse and thin eyebrow Postnatal microcephaly Hypsarrhythmia Bilateral talipes equinovarus Cyanosis Abnormal bleeding Tetraplegia Ichthyosis Dry skin Apnea Myalgia Elevated hepatic transaminase Hyperkeratosis Alopecia Elevated serum creatine phosphokinase Ventricular fibrillation Abnormality of coagulation Hypersegmentation of neutrophil nuclei Recurrent otitis media Nausea and vomiting Narrow chest Leukemia Bone marrow hypercellularity Retrognathia Glaucoma Myelokathexis Downslanted palpebral fissures Lymphadenopathy Flexion contracture Asthma Chronic diarrhea Lipoatrophy Aplasia of the fingers Adactyly Abnormal isoelectric focusing of serum transferrin Reduced antithrombin III activity Type I transferrin isoform profile Aplasia/Hypoplasia of the nipples Congenital hepatic fibrosis Hypoketotic hypoglycemia Myocarditis Epileptic spasms Microcytic anemia Acute bronchitis



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