Congestive heart failure, and Eczema

Diseases related with Congestive heart failure and Eczema

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


Top matches:

Medium match POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY; PGBM1


Polyglucosan body myopathy-1 is an autosomal recessive disorder characterized by onset in childhood of progressive proximal muscle weakness, resulting in difficulties in ambulation. Most patients also develop progressive dilated cardiomyopathy, which may necessitate cardiac transplant in severe cases. A small subset of patients present with severe immunodeficiency and a hyperinflammatory state in very early childhood (summary by Boisson et al., 2012 and Nilsson et al., 2013). Genetic Heterogeneity of Polyglucosan Body MyopathySee also PGBM2 (OMIM ), caused by mutation in the GYG1 gene (OMIM ) on chromosome 3q24.

POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY; PGBM1 Is also known as polyglucosan body myopathy, early-onset, with or without immunodeficiency|pbmei

Related symptoms:

  • Scoliosis
  • Growth delay
  • Failure to thrive
  • Muscle weakness
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY; PGBM1

Medium match AUTOSOMAL DOMINANT HYPOCALCEMIA


Autosomal dominant hypocalcemia (AD hypocalcemia) is a disorder of calcium homeostasis characterized by variable degrees of hypocalcemia with abnormally low levels of parathyroid hormone (PTH) and persistant normal or elevated calciuria.

AUTOSOMAL DOMINANT HYPOCALCEMIA Is also known as ad hypocalcemia|hypocalcemia, familial|hypercalciuric hypocalcemia

Related symptoms:

  • Seizures
  • Short stature
  • Optic atrophy
  • Fatigue
  • Congestive heart failure


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT HYPOCALCEMIA

Medium match 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY; MCC2D


3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY; MCC2D Is also known as 3-methylcrotonylglycinuria ii|mcc2 deficiency|methylcrotonylglycinuria, type ii

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive


SOURCES: OMIM MESH MENDELIAN

More info about 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY; MCC2D

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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

Medium 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 MELAS


MELAS (Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke) syndrome is a rare progressive multisystemic disorder characterized by encephalomyopathy, lactic acidosis, and stroke-like episodes. Other features include endocrinopathy, heart disease, diabetes, hearing loss, and neurological and psychiatric manifestations.

MELAS Is also known as mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes|melas syndrome|mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MELAS

Low match HURLER SYNDROME


Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy.

HURLER SYNDROME Is also known as mpsih|mps1h|mps1-h|mucopolysaccharidosis type 1h|mucopolysaccharidosis type ih|hurler disease

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about HURLER SYNDROME

Low match JACOBSEN SYNDROME


Jacobsen syndrome is a multiple congenital anomaly/mental retardation (MCA/MR) contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11.

JACOBSEN SYNDROME Is also known as monosomy 11qter|del(11)(q23.3)|distal deletion 11q|telomeric deletion 11q|distal monosomy 11q|del(11)(qter)|chromosome 11q deletion syndrome|partial 11q monosomy syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about JACOBSEN SYNDROME

Low match NEUTRAL LIPID STORAGE MYOPATHY


Neutral lipid storage disease with myopathy is an autosomal recessive muscle disorder characterized by adult onset of slowly progressive proximal muscle weakness affecting the upper and lower limbs and associated with increased serum creatine kinase; distal muscle weakness may also occur. About half of patients develop cardiomyopathy later in the disease course. Other variable features include diabetes mellitus, hepatic steatosis, hypertriglyceridemia, and possibly sensorineural hearing loss. Leukocytes and muscle cells show cytoplasmic accumulation of triglycerides (summary by Reilich et al., 2011).Neutral lipid storage disease with myopathy belongs to a group of disorders termed neutral lipid storage disorders (NLSDs). These disorders are characterized by the presence of triglyceride-containing cytoplasmic droplets in leukocytes and in other tissues, including bone marrow, skin, and muscle. Chanarin-Dorfman syndrome (CDS ) is defined as NLSD with ichthyosis (NLSDI). Patients with NLSDM present with myopathy but without ichthyosis (summary by Fischer et al., 2007).

NEUTRAL LIPID STORAGE MYOPATHY Is also known as neutral lipid storage disease with myopathy without ichthyosis|nlsdm|triglyceride deposit cardiomyovasculopathy|neutral lipid storage disease without ichthyosis

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUTRAL LIPID STORAGE MYOPATHY

Low 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

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

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Failure to thrive Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Fatigue Cardiomyopathy Myopathy Recurrent infections Muscular hypotonia Diarrhea Depressivity Intellectual disability Arrhythmia Osteopenia Seizures Feeding difficulties Generalized hypotonia Skeletal muscle atrophy Elevated hepatic transaminase Immunodeficiency Hepatomegaly Muscle weakness Sensorineural hearing impairment Hypertelorism Seborrheic dermatitis Short neck Abnormality of the dentition Stroke Feeding difficulties in infancy Scoliosis Recurrent upper respiratory tract infections Hyperammonemia Exercise intolerance Easy fatigability Macrocephaly Ventriculomegaly Vomiting Cerebral atrophy Dilatation Acidosis Constipation Hypoglycemia Optic atrophy Proximal muscle weakness Behavioral abnormality Hypothyroidism Abdominal pain Dilated cardiomyopathy Delayed puberty Carious teeth Myalgia Hepatosplenomegaly Diabetes mellitus Recurrent respiratory infections Elevated serum creatine phosphokinase Pneumonia Lethargy Ptosis

Rare Symptoms - Less than 30% cases


Pulmonary embolism Hashimoto thyroiditis Abnormality of mitochondrial metabolism Heart murmur Abnormal nerve conduction velocity Motor delay Peripheral neuropathy Gait disturbance Abnormal heart morphology Recurrent bacterial infections Talipes equinovarus Respiratory distress Hypertrophic cardiomyopathy Diastasis recti Specific learning disability Sudden cardiac death Full cheeks Neutropenia Lactic acidosis Talipes Ophthalmoplegia Protruding ear Pectus excavatum Edema Otitis media Abnormality of peripheral nerve conduction Hirsutism Mental deterioration Nyctalopia Attention deficit hyperactivity disorder Neurological speech impairment Anal atresia Ichthyosis Hemiplegia Postural instability Dyspnea Hip dysplasia Schizophrenia Abnormality of the cardiovascular system Generalized hirsutism Hypertrichosis Decreased body weight Left ventricular hypertrophy Apnea Hypogonadism Mitochondrial myopathy Cataract Left ventricular failure Endocardial fibroelastosis Sinusitis Abnormal mitochondrial morphology Abnormal mitochondrial shape Microcephaly Pain Cognitive impairment Osteoporosis Hypertension Decreased antibody level in blood Fever Respiratory insufficiency Kyphosis Headache Visual loss Areflexia Thyroiditis Gingival overgrowth Micrognathia Organic aciduria Progressive neurologic deterioration Alopecia Prominent forehead Microdontia Hypercalciuria Hernia Decreased plasma carnitine Coma Long philtrum Hydrocephalus Anteverted nares Frontal bossing Anemia Thrombocytopenia Dehydration Hepatic steatosis Carcinoma Reduced consciousness/confusion Increased intracranial pressure Dolichocephaly Basal ganglia calcification Abnormal form of the vertebral bodies Hypoparathyroidism Craniosynostosis EMG abnormality Anxiety Writer's cramp Muscle cramps Dry skin Paresthesia Hyperreflexia Encephalopathy Delayed skeletal maturation Inguinal hernia Wide nasal bridge Type I diabetes mellitus Flexion contracture Depressed nasal bridge Leukocytosis Bronchiectasis Progressive proximal muscle weakness Pulmonary arterial hypertension Progressive muscle weakness Abnormal facial shape Psoriasiform dermatitis Sepsis Abnormality of the liver Purpura Lumbar hyperlordosis Myocardial infarction Atlantoaxial dislocation Abnormality of the gingiva Abnormality of the ribs Cardiomegaly J-shaped sella turcica Prominent sternum Anterior rib cupping Large sella turcica Flared nostrils Broad nasal tip Narrow pelvis bone Thick skull base Deformed humerus Anterior open bite Difficulty standing Hip subluxation Intellectual disability, profound Sclerosis of skull base Chronic rhinitis Interphalangeal joint contracture of finger Biconcave vertebral bodies Large face Mucopolysacchariduria Meckel diverticulum Heparan sulfate excretion in urine Delayed tarsal ossification Asthma Limitation of joint mobility Dermatan sulfate excretion in urine Lumbar kyphosis Abnormal CNS myelination Abnormality of the skin Abnormality of mucopolysaccharide metabolism Progressive visual loss Cervical kyphosis Abnormality of the pubic bone Hypoplasia of the femoral head Short mandibular rami Urinary glycosaminoglycan excretion Calcification of falx cerebri Abnormality of the tonsils C1-C2 subluxation Abnormal hand morphology Hernia of the abdominal wall Thoracolumbar kyphoscoliosis Enlarged tonsils Hypoplastic cervical vertebrae Cervical subluxation Calvarial hyperostosis Mandibular condyle hypoplasia Cervical myelopathy Abnormality of lysosomal metabolism Flaring of rib cage Broad ischia Abnormality of the middle ear ossicles Enlargement of the wrists Abnormality of joint mobility Retinal fold Sagittal craniosynostosis Recurrent ear infections Shallow orbits Short clavicles Hypoplasia of the odontoid process Enlarged vertebral pedicles Protuberant abdomen Peripheral visual field loss Cerebral palsy Abnormality of the elbow Thoracic scoliosis Recurrent lower respiratory tract infections Obstructive sleep apnea Aortic regurgitation Abnormality of the skull Coxa vara Abnormality of the clavicle Gingivitis Protruding tongue Rhinitis Dysostosis multiplex Toe walking Progressive hearing impairment Corneal dystrophy Sleep apnea Prominent supraorbital ridges Back pain Language impairment Stridor Metatarsus adductus Spinal canal stenosis Multiple joint contractures Flared metaphysis Coronary artery atherosclerosis Restrictive ventilatory defect Abnormal heart valve morphology Thickened calvaria Arthropathy Opacification of the corneal stroma Abnormality of dental enamel Abnormal diaphysis morphology Encephalocele Hypoplasia of teeth Abnormality of epiphysis morphology Thickened skin Long eyelashes Widely spaced teeth Chronic diarrhea Myelopathy Constrictive median neuropathy Mitral regurgitation Rhinorrhea Broad femoral neck Split hand Delayed ossification of carpal bones Diaphyseal thickening Recurrent otitis media Abnormal aortic valve morphology Abnormal mitral valve morphology Spastic paraparesis Hypoplastic ilia Abnormality of the respiratory system Tracheal stenosis Beaking of vertebral bodies Large earlobe Coxa valga Communicating hydrocephalus Upper airway obstruction Angina pectoris Pulmonary edema Conical tooth Cor pulmonale Flared iliac wings Foam cells Elbow flexion contracture Abnormal vertebral morphology Exotropia Palpebral edema Tachycardia Proximal tapering of metacarpals Urethral stenosis Aplasia/Hypoplasia of the earlobes Labial hypoplasia Abnormal thrombocyte morphology Broad columella Nasolacrimal duct obstruction Abnormality of the head Long hallux U-Shaped upper lip vermilion Broad hallux phalanx Central hypothyroidism Clitoral hypoplasia Macular hypoplasia Giant platelets Toe clinodactyly Abnormality of the anus Annular pancreas Nuclear cataract Mitral stenosis Arteria lusoria Transposition of the great arteries Flat occiput Aplasia/Hypoplasia of the eyebrow Hypoplastic left heart Atrioventricular canal defect Partial agenesis of the corpus callosum Slender finger Natal tooth Wheezing Ectopic anus Bipolar affective disorder Abnormal eyelash morphology Double outlet right ventricle Missing ribs Retinal dysplasia Chronic constipation Eyelid coloboma Duodenal atresia Internal hemorrhage Bilateral camptodactyly Chorioretinal coloboma Atelectasis Combined immunodeficiency Osteomyelitis Cellulitis IgG deficiency Periodontitis B-cell lymphoma Verrucae Abnormality of female internal genitalia Recurrent urinary tract infections Abnormality of female external genitalia Abnormality of bone marrow cell morphology Folliculitis Septic arthritis Tonsillitis Hypersegmentation of neutrophil nuclei Bone marrow hypercellularity Meningitis Lymphoma Congenital thrombocytopenia Insulin resistance Megakaryocyte dysplasia Abnormality of the curvature of the vertebral column Obesity Difficulty walking Distal muscle weakness Waddling gait Hypertriglyceridemia Fasciculations Respiratory tract infection Hyperlipidemia Gowers sign Difficulty running Neck muscle weakness Increased muscle lipid content Neoplasm Respiratory failure Arthritis Hammertoe Ectropion Bullet-shaped phalanges of the hand Clinodactyly of the 5th finger Short nose Syndactyly Microphthalmia Abnormality of cardiovascular system morphology Hypospadias Clinodactyly Patent ductus arteriosus Agenesis of corpus callosum Atrial septal defect High forehead Retrognathia Pes planus Thin upper lip vermilion Hydronephrosis Telecanthus Intellectual disability, moderate Intellectual disability, mild Ventricular septal defect Camptodactyly Abnormality of premolar morphology Broad long bone diaphyses Abnormality of the wing of the ilium Increased size of nasopharyngeal adenoids Abnormality of glycosaminoglycan metabolism Abnormality of the tympanic membrane Stiff interphalangeal joints Abnormal mandible coronoid process morphology Abnormal mandibular ramus morphology Downslanted palpebral fissures Delayed ossification of the hand bones Strabismus Cryptorchidism Spasticity Low-set ears Epicanthus Brachydactyly Intrauterine growth retardation Low-set, posteriorly rotated ears Postnatal growth retardation Trigonocephaly Bone marrow hypocellularity Pachygyria Amblyopia Short thumb Short toe Leukodystrophy Aortic valve stenosis Spina bifida Horseshoe kidney Coarctation of aorta Multicystic kidney dysplasia Holoprosencephaly Azoospermia Abnormal palate morphology Tachypnea Infantile muscular hypotonia Pyloric stenosis Hand polydactyly Pancytopenia Growth hormone deficiency Coloboma Narrow chest Abnormal cardiac septum morphology Skin rash Finger syndactyly Leukemia Small for gestational age Hip dislocation Toe syndactyly Facial asymmetry Webbed neck Smooth philtrum Delayed eruption of teeth Bruising susceptibility Iris coloboma Single transverse palmar crease Microcornea Premature birth Intestinal malrotation Macroglossia Proximal tubulopathy Sleep disturbance Visual impairment Cyclic neutropenia Increased mitochondrial number Recurrent infections in infancy and early childhood Intermittent lactic acidemia Ataxia Nystagmus Dysarthria Monocytosis Tremor Dysphagia Blindness Cerebellar atrophy Hypertonia Dystonia Renal insufficiency Agranulocytosis Pyoderma Cerebellar hypoplasia Left ventricular noncompaction Round face Aciduria Hydrops fetalis Spontaneous abortion Ventricular arrhythmia Myopathic facies Poor appetite Recurrent aphthous stomatitis Prolonged QTc interval Skeletal myopathy Abnormality of the mitochondrion Hypocholesterolemia 3-Methylglutaconic aciduria Abnormality of neutrophils Granulocytopenia Abnormal endocardium morphology Hyporeflexia Rod-cone dystrophy Facial palsy Polyneuropathy Confusion Vertigo Peripheral axonal neuropathy Nausea Polymicrogyria Nephropathy Abnormal cerebellum morphology Malabsorption Generalized myoclonic seizures Sensory impairment Migraine Increased serum lactate Memory impairment Amenorrhea Cerebral calcification Dysmetria Nausea and vomiting Dementia Photophobia Myoclonus Cerebral cortical atrophy Gait ataxia Weight loss Autism Gastroesophageal reflux Jaundice EEG abnormality Congenital cataract Proteinuria Developmental regression Abnormality of the pinna Erythema Pruritus Generalized tonic-clonic seizures Arthrogryposis multiplex congenita Broad forehead Deeply set eye Generalized-onset seizure Hypermagnesiuria Abnormal renal physiology Abnormal pattern of respiration Increased circulating renin level Hypocalcemic seizures Cortical myoclonus Laryngospasm Metabolic acidosis Hyperphosphatemia Cyanosis Opisthotonus Hypoventilation Ketoacidosis Ketonuria Hyperglycinuria Neutrophilia Tetany Hypomagnesemia Necrotizing encephalopathy Nephrolithiasis Lymphadenopathy Severe failure to thrive Recurrent pharyngitis Pyelonephritis Gastrointestinal inflammation Pharyngitis Hypotension Abnormality of the nail Irregular hyperpigmentation Hypocalcemia Nephrocalcinosis Abnormality of the fingernails Reduced bone mineral density Hypokalemia Emotional lability Fatigable weakness Encephalomalacia Propionyl-CoA carboxylase deficiency Macrotia Functional abnormality of the bladder Primary hypothyroidism B lymphocytopenia Antiphospholipid antibody positivity Renovascular hypertension Renal artery stenosis Autoimmune neutropenia Carotid artery dilatation Enterocolitis Recurrent Aspergillus infections Susceptibility to herpesvirus Oropharyngeal squamous cell carcinoma Esophageal carcinoma Medial calcification of large arteries Abnormal serum interferon-gamma level Mandibular prognathia Decrease in T cell count Immune dysregulation Acute hyperammonemia Encephalitis Autoimmunity Hemolytic anemia Hepatitis Inflammatory abnormality of the skin Lymphopenia Abnormal intestine morphology Leukoencephalopathy Patent foramen ovale Generalized osteoporosis Inflammation of the large intestine Autoimmune hemolytic anemia Autoimmune thrombocytopenia Dilatation of the cerebral artery Abnormality of the endocrine system Chronic mucocutaneous candidiasis Villous atrophy Pigmentary retinopathy Bilateral sensorineural hearing impairment Neurodegeneration Hemeralopia Auditory hallucinations Renal Fanconi syndrome Tubulointerstitial abnormality Psychotic episodes Abnormality of the cerebellar vermis Crohn's disease Abnormal macular morphology Gastroparesis Spotty hypopigmentation Paronychia Edema of the dorsum of hands Cochlear malformation Progressive night blindness Cochlear degeneration Paralytic ileus Amaurosis fugax Spontaneous hematomas Homonymous hemianopia Ileus Wolff-Parkinson-White syndrome Cerebral ischemia Gait imbalance Anterior hypopituitarism Stroke-like episode Speech apraxia Retinal pigment epithelial atrophy Hemianopia Leber optic atrophy Abnormality of the renal tubule Episodic vomiting Motor polyneuropathy Dysesthesia Psychomotor deterioration Muscle fiber atrophy Persistence of primary teeth Abnormal cochlea morphology Abnormality of acid-base homeostasis Visual hallucinations Genu valgum Abnormal pyramidal sign Pectus carinatum Corneal opacity Severe global developmental delay Synophrys Abnormality of eye movement Retinal degeneration Retinopathy Abnormality of skin pigmentation Thick eyebrow Wide nose Inability to walk Thick vermilion border High, narrow palate Everted lower lip vermilion Camptodactyly of finger Wide mouth Episodic quadriplegia Pes cavus Bilateral intracranial calcifications Morphological abnormality of the vestibule of the inner ear Morphological abnormality of the inner ear Prominent ear helix Delayed speech and language development Abnormality of the skeletal system Splenomegaly Glaucoma Joint stiffness Proptosis Kyphoscoliosis Skeletal dysplasia Coarse facial features Umbilical hernia Conductive hearing impairment Pallor Increased CSF lactate Tubulointerstitial nephritis Nephrotic syndrome Chronic kidney disease Ischemic stroke Hypopigmented skin patches Mutism Goiter Hyperkinesis Growth abnormality Atrioventricular block Reduced tendon reflexes Cachexia Decreased nerve conduction velocity Bilateral ptosis Aortic aneurysm Hyponatremia Ophthalmoparesis Personality changes Ragged-red muscle fibers External ophthalmoplegia Aplasia/Hypoplasia of the cerebellum Anorexia Type II diabetes mellitus Status epilepticus Psychosis Ventricular hypertrophy Atrial fibrillation Hemiparesis Involuntary movements Abnormality of retinal pigmentation Pancreatitis Hallucinations Cerebral visual impairment Clonus Cardiac arrest Truncal ataxia Hypogonadotrophic hypogonadism Macular degeneration Intestinal obstruction Bifid scrotum Renal tubular dysfunction Xerostomia Distal arthrogryposis Drowsiness Atopic dermatitis Abnormality of visual evoked potentials Neonatal hypoglycemia Vitiligo Heart block Abnormality of immune system physiology Progressive external ophthalmoplegia Posterior subcapsular cataract Transient ischemic attack Delusions Cardiorespiratory arrest Facial diplegia Aortic dissection Primary adrenal insufficiency Rhabdomyolysis Mask-like facies Vestibular dysfunction Hemiplegia/hemiparesis Focal segmental glomerulosclerosis Abnormality of neuronal migration Overlapping toe Adrenal insufficiency Bundle branch block Aphasia Dysphasia Hyperthyroidism Hyperkalemia Visual field defect Prolonged QT interval Multiple lipomas Vertebral fusion Progressive sensorineural hearing impairment Glomerulopathy Myelokathexis



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