Congestive heart failure, and Malabsorption

Diseases related with Congestive heart failure and Malabsorption

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


Top matches:

Medium match DIFFUSE CUTANEOUS SYSTEMIC SCLEROSIS


Diffuse cutaneous systemic sclerosis (dcSSc) is a subtype of Systemic Sclerosis (SSc; see this term) characterized by truncal and acral skin fibrosis with an early and significant incidence of diffuse involvement (interstitial lung disease, oliguric renal failure, diffuse gastrointestinal disease, and myocardial involvement).

DIFFUSE CUTANEOUS SYSTEMIC SCLEROSIS Is also known as progressive cutaneous systemic scleroderma|diffuse cutaneous systemic scleroderma|progressive cutaneous systemic sclerosis

Related symptoms:

  • Muscle weakness
  • Pain
  • Flexion contracture
  • Hypertension
  • Dysphagia


SOURCES: ORPHANET MENDELIAN

More info about DIFFUSE CUTANEOUS SYSTEMIC SCLEROSIS

Medium match MATERNALLY-INHERITED DIABETES AND DEAFNESS


Maternally inherited diabetes and deafness (MIDD) is a mitochondrial disorder characterized by maternally transmitted diabetes and sensorineural deafness.

MATERNALLY-INHERITED DIABETES AND DEAFNESS Is also known as ballinger-wallace syndrome|diabetes-deafness syndrome, maternally transmitted|mitochondrial diabetes|noninsulin-dependent diabetes mellitus with deafness|niddm with deafness|diabetes mellitus, type ii, with deafness|midd

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about MATERNALLY-INHERITED DIABETES AND DEAFNESS

Medium match ATTRV30M AMYLOIDOSIS


Familial amyloid polyneuropathy (FAP) or transthyretin (TTR) amyloid polyneuropathy is a progressive sensorimotor and autonomic neuropathy of adulthood onset. Weight loss and cardiac involvement are frequent; ocular or renal complications may also occur.

ATTRV30M AMYLOIDOSIS Is also known as familial amyloid polyneuropathy type i|ttr amyloid neuropathy|attrv30m-related amyloidosis|hereditary amyloidosis, transthyretin-related|transthyretin amyloid polyneuropathy|familial amyloid polyneuropathy, portuguese-swedish-japanese type|fap|amyloid pol

Related symptoms:

  • Seizures
  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about ATTRV30M AMYLOIDOSIS

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Other less relevant matches:

Medium match WALDENSTRÖM MACROGLOBULINEMIA


Waldenström macroglobulinemia (WM) is an indolent B-cell lymphoproliferative disorder characterized by the accumulation of monoclonal cells in the bone marrow and peripheral lymphoid tissues, and associated with the production of serum immunoglobulin M (IgM) monoclonal protein.

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Neoplasm
  • Anemia
  • Peripheral neuropathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about WALDENSTRÖM MACROGLOBULINEMIA

Medium 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

Medium 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

Medium match GAUCHER DISEASE TYPE 3


Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD; see this term) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1 (see this term).

GAUCHER DISEASE TYPE 3 Is also known as chronic neuronopathic gaucher disease|cerebral juvenile and adult form of gaucher disease|gaucher disease, subacute neuronopathic type

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about GAUCHER DISEASE TYPE 3

Medium match HENNEKAM SYNDROME


Hennekam syndrome is characterised by the association of lymphoedema, intestinal lymphangiectasia, intellectual deficit and facial dysmorphism.

HENNEKAM SYNDROME Is also known as lymphedema-lymphangiectasia-intellectual disability syndrome|lymphatic dysplasia, generalized|hennekam lymphangiectasia-lymphedema syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Scoliosis
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about HENNEKAM SYNDROME

Medium match ALAGILLE SYNDROME 1; ALGS1


Alagille syndrome is an autosomal dominant disorder that traditionally has been defined by a paucity of intrahepatic bile ducts, in association with 5 main clinical abnormalities: cholestasis, cardiac disease, skeletal abnormalities, ocular abnormalities, and a characteristic facial phenotype (Li et al., 1997). Cholestasis is a direct consequence of the paucity of bile ducts. About 39% of patients also have renal involvement, mainly renal dysplasia (Kamath et al., 2012).Turnpenny and Ellard (2012) reviewed the clinical features, diagnosis, pathogenesis, and genetics of Alagille syndrome. Genetic Heterogeneity of Alagille SyndromeAnother form of Alagille syndrome (ALGS2 ) is caused by mutation in the NOTCH2 gene (OMIM ).

ALAGILLE SYNDROME 1; ALGS1 Is also known as algs|alagille-watson syndrome|alagille syndrome|hepatic ductular hypoplasia, syndromatic|arteriohepatic dysplasia|aws|cholestasis with peripheral pulmonary stenosis|ahd

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about ALAGILLE SYNDROME 1; ALGS1

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

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

Symptoms // Phenotype % cases
Renal insufficiency Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Diarrhea Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Hypertension

Uncommon Symptoms - Between 30% and 50% cases


Proteinuria Ataxia Growth delay Abnormality of the kidney Vomiting Anemia Nephropathy Abnormal facial shape Hepatomegaly Arrhythmia Cardiomyopathy Dementia Respiratory insufficiency Stroke Cataract Sensorineural hearing impairment Headache Fever Muscle weakness Weight loss Arthritis Short stature Constipation Urinary incontinence Hypothyroidism Corneal opacity Migraine Stage 5 chronic kidney disease Pain Fatigue Paresthesia Nephrotic syndrome Hydrocephalus Tremor Lymphopenia Peripheral neuropathy Myopia Cognitive impairment Depressed nasal bridge Anorexia Thrombocytopenia Abnormality of skin pigmentation Failure to thrive Glomerulopathy Global developmental delay Edema of the lower limbs Hematuria Depressivity Delayed puberty Hepatosplenomegaly Delayed skeletal maturation Edema Lymphadenopathy Scoliosis Splenomegaly Nystagmus Glomerulosclerosis Vertigo Retinopathy Lymphedema Pulmonary arterial hypertension Pigmentary retinopathy Pancytopenia Telangiectasia of the skin Dyspnea Dilatation Visual impairment Autoimmunity

Rare Symptoms - Less than 30% cases


Intrauterine growth retardation Clubbing Elevated erythrocyte sedimentation rate Periorbital edema Portal hypertension Abnormality of the dentition Lymphoproliferative disorder Hypercoagulability Hypoalbuminemia Nausea and vomiting Kyphosis Spina bifida occulta Interstitial pulmonary abnormality Pleural effusion Pericardial effusion Purpura Arthralgia Epistaxis Memory impairment Gastrointestinal hemorrhage Lymphoma Osteopenia Strabismus Pallor Visual loss Recurrent infections Short philtrum Low-set ears Conductive hearing impairment Xerostomia Flat face Craniosynostosis Recurrent respiratory infections Hemiplegia Atherosclerosis Abdominal pain Osteolysis Neutropenia Pulmonary fibrosis Pruritus Cirrhosis Ascites Abdominal distention Smooth philtrum Carcinoma Abnormal intestine morphology Hip dislocation Syncope Mental deterioration Difficulty walking Macrotia Acidosis Corneal dystrophy Coarse facial features Pulmonary infiltrates Vesicoureteral reflux Intellectual disability, severe Hydrops fetalis Optic atrophy Heart murmur Dysarthria Chronic kidney disease Developmental regression Hypertelorism Abnormal autonomic nervous system physiology Vasculitis Emphysema Coronal craniosynostosis Peripheral arterial stenosis Renal tubular acidosis Abnormal form of the vertebral bodies Hypotension Hypertrophic cardiomyopathy Gliosis Polyneuropathy Ophthalmoplegia Unsteady gait Retinal degeneration Atrioventricular block Cryptorchidism Areflexia Bilateral sensorineural hearing impairment Midface retrusion Hyperlipidemia Ventricular septal defect Abnormality of lipid metabolism Progressive sensorineural hearing impairment Abnormal retinal morphology Reduced bone mineral density Atrial septal defect Bundle branch block Intellectual disability, mild Dysphagia Abnormal lung morphology Transient ischemic attack Protein-losing enteropathy Thoracic kyphosis Myelopathy Abnormal myocardium morphology Hepatocellular carcinoma Bulbous nose Multiple myeloma Restrictive cardiomyopathy Primary hypothyroidism Abnormality of the vasculature Broad forehead Abnormal renal physiology Abnormal heart valve morphology Malnutrition Neoplasm Scarring Abnormal thrombosis Myalgia Impotence Orthostatic hypotension Tetralogy of Fallot Abnormality of the ribs Coarctation of aorta Abnormal vertebral morphology Hypertriglyceridemia Exotropia Renal dysplasia Keratoconus Cholestasis Renal hypoplasia Fat malabsorption Pulmonary artery stenosis Multicystic kidney dysplasia Peripheral pulmonary artery stenosis Abnormality of the ureter Hypoplasia of the ulna Small hand Exocrine pancreatic insufficiency Intrahepatic cholestasis Vertebral segmentation defect Chorioretinal atrophy Renal hypoplasia/aplasia Posterior embryotoxon Long nose Pointed chin Cholestatic liver disease Hypercholesterolemia Finger clinodactyly Thyroid carcinoma Hirsutism Prolonged neonatal jaundice Dilatation of the cerebral artery Hemivertebrae Abnormal pupil morphology Specific learning disability Pachygyria Prominent nose Nonimmune hydrops fetalis Hypocalcemia Horseshoe kidney Severe hydrops fetalis Pulmonary lymphangiectasia Lymphangioma Erysipelas Intestinal lymphangiectasia Abnormal oral mucosa morphology Chylothorax Rectal prolapse Generalized edema Hypoproteinemia Sparse axillary hair Arteriovenous malformation Bilateral single transverse palmar creases Hypoplastic iliac wing Polysplenia External ear malformation Palpebral edema Increased number of teeth Cutaneous finger syndactyly Ectopic kidney Abnormality of dental morphology Narrow palate Pyloric stenosis Reduced number of teeth Oligodontia Cutaneous syndactyly Conical incisor Joint contracture of the hand Short foot Deeply set eye Round face Triangular face Hypodontia Microcornea Hypopigmentation of the skin Short distal phalanx of finger Hepatic failure Anal atresia Pulmonic stenosis Abnormality of the liver Delayed eruption of teeth Protruding ear Elevated hepatic transaminase Jaundice Mild postnatal growth retardation Brachycephaly Decreased antibody level in blood Upslanted palpebral fissure Prominent forehead Gingival overgrowth Clinodactyly of the 5th finger Clinodactyly Abnormality of the skeletal system Frontal bossing Downslanted palpebral fissures Micrognathia Pleural lymphangiectasia Pericardial lymphangiectasia Thyroid lymphangiectasia Benign neoplasm of the central nervous system Bradycardia Hypopigmentation of the fundus Dysesthesia T-wave inversion Miosis Chronic pain Tubulointerstitial fibrosis Abnormality of the renal tubule Abnormal cornea morphology Supraventricular arrhythmia Gastrointestinal dysmotility Conjunctival telangiectasia Microalbuminuria Biventricular hypertrophy Abnormal endocardium morphology Abnormality of cardiovascular system physiology Decreased female libido Vascular skin abnormality Abnormal aortic valve morphology Periorbital fullness Corneal crystals Chronic obstructive pulmonary disease Large earlobe Supraventricular tachycardia Heat intolerance Reduced ejection fraction Clubbing of fingers Angina pectoris Achalasia Abnormal mitral valve morphology Sinus bradycardia Myocardial fibrosis Chronic fatigue Abnormality of femur morphology Abnormality of the nose High-frequency hearing impairment Asymmetric septal hypertrophy Retinal vascular tortuosity Limb pain Abnormality of the gastrointestinal tract Tenesmus Impaired renal concentrating ability Abnormality of glycosphingolipid metabolism Abnormality of the forehead Hyperkeratotic papule Tortuosity of conjunctival vessels Left ventricular septal hypertrophy Heavy proteinuria ST segment depression Acroparesthesia Abnormal common carotid artery morphology Abnormal ST segment Increased carotid artery intimal medial thickness Increased glomerular filtration rate Abnormality of the common coagulation pathway Abnormal glomerular filtration rate Functional abnormality of the gastrointestinal tract Unexplained fevers Abnormality of temperature regulation Obstructive lung disease Nephrogenic diabetes insipidus Decreased glomerular filtration rate Vascular tortuosity Distal renal tubular acidosis Increased blood urea nitrogen Reduced sperm motility Angiokeratoma Impaired temperature sensation Mucosal telangiectasiae Hyposthenuria Shortened QT interval Angiokeratoma corporis diffusum Decreased lacrimation Shortened PR interval Coronary artery stenosis Concentric hypertrophic cardiomyopathy Oligospermia Tubular atrophy Arterial stenosis Abnormality of the cerebral white matter Anxiety Abnormality of the nervous system Skin rash Cough Prominent nasal bridge Papule Nausea Hyperkeratosis Tachycardia Thick eyebrow Thick vermilion border Muscle cramps Chest pain Sudden cardiac death Abnormality of the cardiovascular system Mandibular prognathia Hyperhidrosis Ventricular hypertrophy Renal artery stenosis Butterfly vertebrae Abnormal anterior chamber morphology Biliary atresia Band keratopathy Papillary thyroid carcinoma Axenfeld anomaly Vitamin D deficiency Multiple small medullary renal cysts Posteriorly rotated ears Chronic hepatic failure Intrahepatic biliary atresia Unicoronal synostosis Rectourethral fistula Reduced number of intrahepatic bile ducts Butterfly vertebral arch Behavioral abnormality Mitral valve prolapse Thick lower lip vermilion Elevated serum creatinine Loss of consciousness Personality changes Impaired vibratory sensation Tricuspid regurgitation Diabetes insipidus Polyuria Anhidrosis Coronary artery atherosclerosis Abnormality of the hand Celiac disease Glycosuria Wheezing Aortic root aneurysm Abnormal EKG Renal tubular dysfunction Tubulointerstitial nephritis Polydipsia Prominent supraorbital ridges Atrial fibrillation Spontaneous abortion Myocardial infarction Palpitations Mitral regurgitation Subcutaneous nodule Left ventricular hypertrophy Hypohidrosis Fasciculations Exercise intolerance Easy fatigability Aminoaciduria Ventricular tachycardia Aortic regurgitation Progressive hearing impairment Ischemic stroke Ventricular arrhythmia Tinnitus Short palm Progressive cerebellar ataxia Abnormality of the foot High forehead Psychosis Abnormality of extrapyramidal motor function Aciduria Metabolic acidosis Hepatic steatosis Hemolytic anemia Joint hypermobility Long face Confusion Lower limb muscle weakness Congenital cataract Lethargy Feeding difficulties in infancy Reduced visual acuity Recurrent urinary tract infections Gait ataxia Cerebral cortical atrophy Feeding difficulties Muscular hypotonia Microcephaly Generalized hypotonia Polyclonal elevation of IgM Cryoglobulinemia Impaired lymphocyte transformation with phytohemagglutinin Monoclonal immunoglobulin M proteinemia Multifocal epileptiform discharges Retinal hemorrhage Abnormality of neutrophils Normocytic anemia Broad-based gait Abnormality of retinal pigmentation Abnormality of the retinal vasculature Delirium Short neck Motor delay Thyroglossal cyst Cystathioninemia Diffuse hepatic steatosis Decreased methylmalonyl-CoA mutase activity Hypomethioninemia Cystathioninuria Vitamin B12 deficiency Decreased methionine synthase activity Decreased adenosylcobalamin Hyperhomocystinemia Decreased methylcobalamin Urogenital fistula Abnormality of macular pigmentation Slurred speech Chronic hemolytic anemia Methylmalonic acidemia Atrophy of the spinal cord Hemolytic-uremic syndrome Right ventricular failure Gastritis Homocystinuria Methylmalonic aciduria Cor pulmonale Megaloblastic anemia Thromboembolism Disproportionate tall stature Apathy Ectopia lentis Reduced consciousness/confusion Raynaud phenomenon Immunodeficiency Myopathy Hyporeflexia Spasticity Abnormal chorioretinal morphology Left bundle branch block Retinal atrophy Macular dystrophy Vestibular dysfunction Hyperglycemia Aplasia/Hypoplasia of the cerebellum Constriction of peripheral visual field Ragged-red muscle fibers External ophthalmoplegia Type II diabetes mellitus Diabetes mellitus Ptosis Paraplegia Abnormal bowel sounds Narrow foramen obturatorium Hypertensive crisis Decreased urine output Dyspareunia Oliguria Osteolytic defects of the phalanges of the hand Scleroderma Skin ulcer Telangiectasia Abnormality of the skin Carious teeth Gastroesophageal reflux Flexion contracture Facial palsy Peripheral axonal neuropathy Gingival bleeding Increased CSF protein Cutis marmorata Urticaria Cranial nerve paralysis Leukemia Proptosis Amyloid deposition in the vitreous humor Cardiac amyloidosis Vitreous floaters Orthostatic hypotension due to autonomic dysfunction Psychomotor deterioration Urinary retention Sensory ataxia Constrictive median neuropathy Stroke-like episode Syringomyelia Coma Amyloidosis Decreased number of peripheral myelinated nerve fibers Axonal degeneration Aphasia Cerebral hemorrhage Rheumatoid arthritis Cachexia Spastic paraparesis Paraparesis Hallucinations Hemiparesis Cardiomegaly Peripheral demyelination Neuronal loss in central nervous system Cerebellar atrophy Pneumonia Narrow chest Opisthotonus Astrocytosis Restrictive deficit on pulmonary function testing Avascular necrosis of the capital femoral epiphysis Abnormality of the spleen Supranuclear gaze palsy Vertebral compression fractures Slow saccadic eye movements Aseptic necrosis Exertional dyspnea Bulbar palsy Abnormality of the sternum Lower limb hyperreflexia Restrictive ventilatory defect Petechiae Increased antibody level in blood Spontaneous hematomas Menorrhagia Abnormality of the thorax Cholelithiasis Increased susceptibility to fractures Leukopenia Oculomotor apraxia Increased bone mineral density Bone pain Decreased body weight Progressive neurologic deterioration Intention tremor Cyanosis Abnormal bleeding Generalized myoclonic seizures Generalized osteosclerosis Aortic valve calcification Abnormality of eye movement Syndactyly Finger syndactyly Microtia Camptodactyly of finger Respiratory tract infection Camptodactyly Intellectual disability, moderate Hydronephrosis Umbilical hernia Retrognathia Polyhydramnios Narrow mouth Glaucoma Hyperactivity Pectus excavatum Malar flattening Abnormal saccadic eye movements Respiratory distress Talipes equinovarus Wide nasal bridge Epicanthus Sleep myoclonus Abnormality of the acoustic reflex Abnormality of ion homeostasis Cardiac valve calcification Horizontal supranuclear gaze palsy Hematological neoplasm Decreased beta-glucocerebrosidase protein and activity Erlenmeyer flask deformity of the femurs Orthopnea Mitral valve calcification Neurodegeneration Generalized tonic-clonic seizures Thin upper lip vermilion Opacification of the corneal stroma Multiple cafe-au-lait spots Steatorrhea Hypermelanotic macule Combined immunodeficiency High pitched voice Focal segmental glomerulosclerosis Spondyloepiphyseal dysplasia Melanocytic nevus Nephritis Glomerulonephritis Epiphyseal dysplasia Encephalitis Coarse hair Azoospermia Bone marrow hypocellularity Ovoid vertebral bodies Abnormality of epiphysis morphology Heterotopia Fine hair Intellectual disability, profound Lumbar hyperlordosis Microdontia Decreased testicular size Waddling gait Premature birth Brain atrophy Abnormal cerebellum morphology Astigmatism Platyspondyly Hyperlordosis Protuberant abdomen Disproportionate short-trunk short stature Abnormal pyramidal sign Abnormal T cell morphology Aggressive behavior Rigidity Osteoporosis Myoclonus Encephalopathy Dystonia Hypertonia Gait disturbance Lateral displacement of the femoral head Nephrosclerosis Anterior pituitary dysgenesis Premature arteriosclerosis Moyamoya phenomenon Abnormal immunoglobulin level Encephalomalacia B-cell lymphoma Increased thyroid-stimulating hormone level Shallow acetabular fossae Steroid-resistant nephrotic syndrome Multiple lentigines Mucopolysacchariduria Hypoplasia of the capital femoral epiphysis Arteriosclerosis Right ventricular cardiomyopathy Cellular immunodeficiency Dentinogenesis imperfecta Subvalvular aortic stenosis Precocious atherosclerosis Cerebral ischemia Villous atrophy Cornea verticillata



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