Congestive heart failure, and Anal atresia

Diseases related with Congestive heart failure and Anal atresia

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


Top matches:

High match IVEMARK SYNDROME


Right atrial isomerism is a severe complex congenital heart defect resulting from embryonic disruption of proper left-right axis determination. RAI is usually characterized by complete atrioventricular septal defect with a common atrium and univentricular AV connection, total anomalous pulmonary drainage, and transposition or malposition of the great arteries. Affected individuals present at birth with severe cardiac failure. Other associated abnormalities include bilateral trilobed lungs, midline liver, and asplenia, as well as situs inversus affecting other organs. Left atrial isomerism (LAI) is a related disorder with a somewhat better prognosis. LAI is characterized by bilateral superior vena cava, interruption of the intrahepatic portion of the inferior vena cava, partial anomalous pulmonary venous drainage, and ventricular septal defect. Patients with LAI may have polysplenia and bilateral bilobed lungs, as well as situs inversus affecting other organs. Both RAI and LAI malformation complexes have classically been referred to as Ivemark syndrome (summary by Eronen et al., 2004 and Kaasinen et al., 2010).

IVEMARK SYNDROME Is also known as ivemark syndrome|asplenia with cardiovascular anomalies|right isomerism

Related symptoms:

  • Growth delay
  • Hypertelorism
  • Low-set ears
  • Flexion contracture
  • Intrauterine growth retardation


SOURCES: OMIM ORPHANET MENDELIAN

More info about IVEMARK SYNDROME

High match VACTERL/VATER ASSOCIATION


VACTERL/VATER is an association of congenital malformations typically characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities.

VACTERL/VATER ASSOCIATION Is also known as vacterl association|vater association

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Scoliosis
  • Growth delay
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about VACTERL/VATER ASSOCIATION

High 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

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Other less relevant matches:

High match FANCONI ANEMIA


Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.

FANCONI ANEMIA Is also known as fanconi pancytopenia|fanconi anemia|fa

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about FANCONI ANEMIA

High 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

Medium 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 C SYNDROME


C syndrome is a rare multiple congenital anomaly/intellectual disability syndrome characterized by trigonocephaly and metopic suture synostosis, dysmorphic facial features, short neck, skeletal anomalies, and variable intellectual disability.

C SYNDROME Is also known as opitz c trigonocephaly|trigonocephaly syndrome|trigonocephaly c syndrome|otcs|opitz trigonocephaly syndrome|opitz trigonocephaly c syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about C SYNDROME

Low match JUVENILE POLYPOSIS SYNDROME; JPS


Juvenile polyposis syndrome is an autosomal dominant condition that predisposes gene carriers to various types of tumors. The diagnosis is based on the occurrence of hamartomatous gastrointestinal polyps that turn into malignant lesions in approximately 20% of cases (Handra-Luca et al., 2005).It had been suggested that juvenile polyposis can be caused by mutations in the PTEN gene (OMIM ), the same gene that is mutant in Cowden syndrome-1 (OMIM ). In a comprehensive review of PTEN, Waite and Eng (2002) concluded that juvenile intestinal polyposis is not a so-called PTEN hamartoma-tumor syndrome (PHTS). They suggested that the discovery of the germline PTEN mutation in an individual considered to have JPS should raise a suspicion that the clinical diagnosis is incorrect and that such an individual should be managed medically in the same manner as all patients with PHTS.

JUVENILE POLYPOSIS SYNDROME; JPS Is also known as polyposis, juvenile intestinal|pji|jip|juvenile intestinal polyposis|polyposis, familial, of entire gastrointestinal tract

Related symptoms:

  • Seizures
  • Neoplasm
  • Failure to thrive
  • Pain
  • Cryptorchidism


SOURCES: OMIM MENDELIAN

More info about JUVENILE POLYPOSIS SYNDROME; JPS

Low match COFFIN-LOWRY SYNDROME


Coffin-Lowry syndrome (CLS) is a rare genetic neurological disorder characterized by psychomotor and growth retardation, facial dysmorphism, digit abnormalities, and progressive skeletal changes.

COFFIN-LOWRY SYNDROME Is also known as cls

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about COFFIN-LOWRY SYNDROME

Low match CONGENITAL ALVEOLAR CAPILLARY DYSPLASIA


Congenital alveolar capillary dysplasia (ACD) is a rare and fatal developmental lung disease characterized by respiratory distress in neonates due to refractory hypoxemia and severe pulmonary arterial hypertension.

CONGENITAL ALVEOLAR CAPILLARY DYSPLASIA Is also known as alveolar capillary dysplasia with misalignment of pulmonary vessels|acdmpv|alveolar capillary dysplasia with misalignment of pulmonary veins|alveolar capillary dysplasia with misalignment of pulmonary veins and other congenital anomalies

Related symptoms:

  • Cryptorchidism
  • Hypertension
  • Ventricular septal defect
  • Respiratory distress
  • Atrial septal defect


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CONGENITAL ALVEOLAR CAPILLARY DYSPLASIA

Top 5 symptoms//phenotypes associated to Congestive heart failure and Anal atresia

Symptoms // Phenotype % cases
Growth delay Common - Between 50% and 80% cases
Failure to thrive Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Cryptorchidism

Uncommon Symptoms - Between 30% and 50% cases


Short stature

Common Symptoms - More than 50% cases


Atrial septal defect

Uncommon Symptoms - Between 30% and 50% cases


Ventricular septal defect

Common Symptoms - More than 50% cases


Intrauterine growth retardation

Uncommon Symptoms - Between 30% and 50% cases


Abnormality of cardiovascular system morphology Hypertension Abnormal heart morphology Microcephaly Patent ductus arteriosus Seizures Tetralogy of Fallot Scoliosis Cataract Abnormal facial shape Strabismus Hearing impairment Depressed nasal bridge Frontal bossing Delayed skeletal maturation Clinodactyly of the 5th finger Micrognathia Abnormal vertebral morphology Epicanthus Anemia Multicystic kidney dysplasia Hepatomegaly Hydrocephalus Abnormal cardiac septum morphology Respiratory distress Muscular hypotonia Ventriculomegaly Generalized hypotonia Constipation Intellectual disability, mild Abnormality of the skeletal system Sensorineural hearing impairment Downslanted palpebral fissures Optic atrophy Short neck Neurological speech impairment Feeding difficulties in infancy Pectus excavatum Anteverted nares Neoplasm Macrocephaly Brachydactyly Duodenal atresia Hypoplastic left heart Renal insufficiency Horseshoe kidney Clinodactyly Toe syndactyly Schizophrenia Fatigue Hypogonadism Hypothyroidism High palate Pes planus Ptosis Hip dislocation Renal hypoplasia/aplasia Vertigo Abnormal form of the vertebral bodies Stroke Abnormality of the liver Craniosynostosis Protruding ear Carcinoma Jaundice Upslanted palpebral fissure Tracheoesophageal fistula Headache Polyhydramnios Syndactyly Short thumb Abnormality of the genital system Flexion contracture Agenesis of corpus callosum Intestinal malrotation Vesicoureteral reflux Finger syndactyly Atrioventricular canal defect Hypospadias Spina bifida Facial asymmetry Talipes equinovarus Postnatal growth retardation Hydronephrosis Low-set, posteriorly rotated ears Abnormality of the kidney Cleft palate Low-set ears

Rare Symptoms - Less than 30% cases


Cutis laxa Delayed puberty Redundant skin Portal hypertension Pancytopenia Abnormality of skin pigmentation Abdominal pain Short distal phalanx of finger Aganglionic megacolon Telangiectasia Hypopigmentation of the skin Pulmonary arterial hypertension Aplasia/Hypoplasia of the corpus callosum Psychosis Hypodontia Decreased body weight Osteoporosis Gingival overgrowth Azoospermia Bone marrow hypocellularity Nephrotic syndrome Coarctation of aorta Pigmentary retinopathy Specific learning disability Heart murmur Gastrointestinal hemorrhage Microcornea Type I diabetes mellitus Abnormality of retinal pigmentation Polydactyly Dyspnea Hypoplasia of the ulna Nystagmus Umbilical hernia Dextrocardia Apnea Dilated cardiomyopathy Attention deficit hyperactivity disorder Proptosis Weight loss Ataxia Visual impairment Inguinal hernia Dysphagia Hyperreflexia Fever Telecanthus Diabetes mellitus Microphthalmia Abnormality of immune system physiology Thrombocytopenia Hypertrophic cardiomyopathy Situs inversus totalis Cerebral cortical atrophy Small for gestational age Single transverse palmar crease Bruising susceptibility Pruritus Smooth philtrum Talipes Dolichocephaly Biliary atresia Postural instability Wide nasal bridge Hernia Hirsutism Pulmonic stenosis Ambiguous genitalia Cyanosis Leukemia Short nose Long philtrum Right-to-left shunt Malabsorption Rectal prolapse Hypopigmented skin patches Skeletal muscle atrophy Feeding difficulties Abnormality of neuronal migration Motor delay Peripheral neuropathy Ureteropelvic junction obstruction Aplasia/Hypoplasia of the cerebellum Abnormal aortic valve morphology Single umbilical artery Asplenia Gait disturbance Cardiomyopathy Tachypnea Abnormality of the anus Annular pancreas Cognitive impairment Missing ribs Diarrhea Bundle branch block Triphalangeal thumb Bifid scrotum Trigonocephaly Hemivertebrae Hand polydactyly Ectopic kidney Vertebral segmentation defect Pain Muscle weakness Transposition of the great arteries Meckel diverticulum Wheezing Absent radius Aplasia/Hypoplasia of the radius Duodenal stenosis Aortic valve stenosis Abnormal lung lobation Abnormality of the dentition Kyphosis Mental deterioration Short metacarpal Hydroureter Coarse facial features Macrotia Acidosis Prominent forehead Tachycardia Areflexia Wide mouth Premature birth Renal agenesis Cerebral atrophy Visual loss Congenital diaphragmatic hernia Hypertonia Renal dysplasia Abnormality of the ribs Recurrent urinary tract infections Omphalocele Intellectual disability, severe Choanal atresia Iris coloboma Otitis media Growth hormone deficiency Abnormality of the pulmonary vasculature Ectropion Microdontia Dehydration Chorioretinal coloboma Pulmonary insufficiency Eczema Accessory spleen Hammertoe Flat occiput Leukodystrophy Webbed neck Narrow chest Pachygyria Absent gallbladder Camptodactyly Pulmonary valve atresia Short toe Amblyopia Decreased antibody level in blood Abnormal palate morphology Coloboma Skin rash Infantile muscular hypotonia Pyloric stenosis Sinusitis Holoprosencephaly Cataplexy Intellectual disability, moderate Speech apraxia Wolff-Parkinson-White syndrome Cerebral ischemia Reduced consciousness/confusion Gait imbalance Anterior hypopituitarism Stroke-like episode Seborrheic dermatitis Left ventricular failure Retinal pigment epithelial atrophy Visual hallucinations Abnormality of peripheral nerve conduction Proximal tubulopathy Ileus Hemianopia Abnormality of the renal tubule Episodic vomiting Motor polyneuropathy Dysesthesia Increased CSF lactate Tubulointerstitial nephritis Muscle fiber atrophy Heart block Distal arthrogryposis Drowsiness Atopic dermatitis Hashimoto thyroiditis Abnormality of visual evoked potentials Neonatal hypoglycemia Vitiligo Xerostomia Hypoparathyroidism Renal tubular dysfunction Mitochondrial myopathy Progressive external ophthalmoplegia Posterior subcapsular cataract Transient ischemic attack Delusions Cardiorespiratory arrest Facial diplegia Aortic dissection Psychomotor deterioration Writer's cramp Hypoglycemia Prominent ear helix Abnormal cochlea morphology Homonymous hemianopia Abnormality of acid-base homeostasis Episodic quadriplegia Partial agenesis of the corpus callosum Bilateral intracranial calcifications Morphological abnormality of the vestibule of the inner ear Morphological abnormality of the inner ear Spasticity Abnormal mitochondrial shape Behavioral abnormality Immunodeficiency Recurrent infections Recurrent respiratory infections High forehead Osteopenia Retrognathia Thin upper lip vermilion Paralytic ileus Cochlear degeneration Persistence of primary teeth Psychotic episodes Leber optic atrophy Spontaneous hematomas Gastroparesis Amaurosis fugax Auditory hallucinations Abnormal nerve conduction velocity Renal Fanconi syndrome Tubulointerstitial abnormality Abnormality of the cerebellar vermis Progressive night blindness Crohn's disease Hemeralopia Abnormal macular morphology Spotty hypopigmentation Paronychia Abnormal mitochondrial morphology Edema of the dorsum of hands Cochlear malformation Aplasia/Hypoplasia of the eyebrow Intellectual disability, profound Slender finger Hypoplasia of the maxilla Thick eyebrow Wide nose Thick vermilion border Everted lower lip vermilion Highly arched eyebrow Tapered finger Delayed eruption of teeth Tetraplegia Joint hyperflexibility Dental malocclusion Cerebellar vermis hypoplasia Thick lower lip vermilion Open mouth Mitral regurgitation Bifid sternum Wide anterior fontanel Uterine prolapse Joint hypermobility Severe global developmental delay Lumbar kyphosis Intussusception Hemoptysis Hematochezia Clubbing of fingers Intestinal polyposis Stomach cancer Hamartomatous polyposis Hematemesis Melena Multiple gastric polyps Pectus carinatum Thick nasal septum Duodenal adenocarcinoma Adenocarcinoma of the colon Hepatic vascular malformations Hypoplasia of the corpus callosum Mandibular prognathia Kyphoscoliosis Hyperlordosis Abnormality of the hair Coxa valga Hamartoma Myelopathy Acrocyanosis Hypoplastic fingernail Stooped posture Restrictive cardiomyopathy Abnormal mitral valve morphology Craniofacial hyperostosis Delayed closure of the anterior fontanelle Advanced eruption of teeth Severe sensorineural hearing impairment Hyperextensibility of the finger joints Premature loss of primary teeth Abnormal diaphysis morphology Thick nasal alae Narrow iliac wings Broad finger Abnormal tricuspid valve morphology Hyperconvex fingernails Soft skin Spinal canal stenosis Retinoschisis Large hands Pseudoepiphyses of the metacarpals Narrow palate Widely spaced teeth Sleep apnea Coarse hair Prominent supraorbital ridges Self-injurious behavior Abnormality of dental morphology Cutis marmorata Anteriorly placed anus Emphysema Loss of consciousness Broad hallux Progressive spasticity Abnormality of digit Broad palm Thickened calvaria Atonic seizures Polycythemia Colon cancer Natal tooth Megakaryocyte dysplasia Macular hypoplasia Giant platelets Toe clinodactyly Internal hemorrhage Arteria lusoria Bilateral camptodactyly Congenital thrombocytopenia Abnormality of the curvature of the vertebral column Central hypothyroidism Posteriorly rotated ears Neonatal hypotonia Cleft lip Micromelia Oral cleft Thin vermilion border Postaxial polydactyly Limitation of joint mobility Clitoral hypoplasia U-Shaped upper lip vermilion Postaxial hand polydactyly Mitral stenosis Bipolar affective disorder Abnormal eyelash morphology Double outlet right ventricle Diastasis recti Retinal dysplasia Chronic constipation Eyelid coloboma Ectopic anus Broad hallux phalanx Urethral stenosis Nuclear cataract Aplasia/Hypoplasia of the earlobes Labial hypoplasia Abnormal thrombocyte morphology Broad columella Nasolacrimal duct obstruction Abnormality of the head Long hallux Limb undergrowth Bilateral single transverse palmar creases Clubbing Hypoplasia of the ear cartilage Medulloblastoma Broad alveolar ridges Accessory oral frenulum Metopic synostosis Female pseudohermaphroditism Pseudohypoaldosteronism Conotruncal defect Renal cortical cysts Midline facial capillary hemangioma Abnormality of the helix Thick anterior alveolar ridges Fused sternal ossification centers Cough Chest pain Epistaxis Diplopia Hypokalemia Hypoalbuminemia Aplasia/Hypoplasia of the abdominal wall musculature Abnormal hair pattern Joint dislocation Biparietal narrowing Hypoxemia Short chin Sacral dimple Failure to thrive in infancy Clitoral hypertrophy Radial deviation of finger Volvulus Multiple joint contractures Ectrodactyly Postaxial foot polydactyly Dislocated radial head Ulnar deviation of finger Bilateral cryptorchidism Bicuspid aortic valve Respiratory failure Anal stenosis Drumstick terminal phalanges Abnormality of the nasal alae Pulmonary embolism Lethargy Primary adrenal insufficiency Fat malabsorption Coronal craniosynostosis Intrahepatic cholestasis Peripheral arterial stenosis Cholestatic liver disease Thyroid carcinoma Abnormal pupil morphology Peripheral pulmonary artery stenosis Hypopigmentation of the fundus Abnormality of the vasculature Arterial stenosis Butterfly vertebrae Abnormal anterior chamber morphology Band keratopathy Papillary thyroid carcinoma Axenfeld anomaly Vitamin D deficiency Pulmonary artery stenosis Dilatation of the cerebral artery Multiple small medullary renal cysts Chorioretinal atrophy Pointed chin Finger clinodactyly Spina bifida occulta Hypercholesterolemia Corneal dystrophy Glomerulosclerosis Malnutrition Long nose Hepatocellular carcinoma Prolonged neonatal jaundice Telangiectasia of the skin Keratoconus Renal tubular acidosis Abnormality of the ureter Posterior embryotoxon Exocrine pancreatic insufficiency Renal artery stenosis Chronic hepatic failure Exotropia Myeloid leukemia Abnormality of vision Abnormality of the urinary system Hyperinsulinemia Myelodysplasia Glucose intolerance Squamous cell carcinoma Absent thumb Multiple cafe-au-lait spots Cranial nerve paralysis Acute myeloid leukemia Abnormality of blood and blood-forming tissues Irregular hyperpigmentation External ear malformation Hearing abnormality Chromosome breakage Abnormal eyelid morphology Reduced bone mineral density Leukopenia Intrahepatic biliary atresia Abnormality of the foot Unicoronal synostosis Rectourethral fistula Reduced number of intrahepatic bile ducts Butterfly vertebral arch Severe short stature Abnormality of the eye Irritability Astigmatism Hypergonadotropic hypogonadism Neutropenia Lymphoma Sloping forehead Oligohydramnios Short palpebral fissure Cafe-au-lait spot Insulin resistance Lymphedema Cholestasis Arteriovenous malformation Right bundle branch block Abnormality of the outer ear Hypoplasia of the radius Laryngomalacia Preaxial polydactyly Radioulnar synostosis Unilateral renal agenesis Preaxial hand polydactyly Non-midline cleft lip Large fontanelles Abnormality of the sternum Occipital encephalocele Anencephaly Esophageal atresia Aplasia/Hypoplasia of the lungs Tracheal stenosis Rectovaginal fistula Preauricular skin tag Small nail Abnormality of the pancreas Total anomalous pulmonary venous return Polysplenia Choanal stenosis Pulmonary artery atresia Complete atrioventricular canal defect Anomalous pulmonary venous return Abdominal situs inversus Heterotaxy Common atrium Hypoplasia of penis Single ventricle Left atrial isomerism Bilateral trilobed lungs Right atrial isomerism Pneumonia Respiratory tract infection Pulmonary hypoplasia Atelectasis Abnormality of female internal genitalia Hypertriglyceridemia Broad forehead Hepatosplenomegaly Deeply set eye Elevated hepatic transaminase Conductive hearing impairment Scarring Retinopathy Short philtrum Stage 5 chronic kidney disease Dilatation Cirrhosis Hepatic failure Flat face Triangular face Round face Prominent nose Renal hypoplasia Brachycephaly Myopia Cavernous hemangioma Abnormality of the intervertebral disk Tethered cord Supernumerary ribs Abnormal sacrum morphology Abnormality of the nasopharynx Laryngeal stenosis Vertebral clefting Lower limb undergrowth Abnormality of the urethra Patent urachus Anorectal anomaly Absence of the sacrum Hemifacial hypoplasia Abnormality of the gallbladder Potter facies Perineal fistula Abnormal tracheobronchial morphology Asymmetric crying face Abnormality of the ulna B-cell lymphoma Thyroiditis Cardiac arrest Hypertrichosis Involuntary movements Left ventricular hypertrophy Anorexia Hallucinations Cerebral visual impairment Clonus Truncal ataxia Atrial fibrillation EMG abnormality Generalized hirsutism Hypogonadotrophic hypogonadism Exercise intolerance Purpura Macular degeneration Pancreatitis Hemiparesis Ventricular hypertrophy Reduced tendon reflexes Increased serum lactate Coma Muscle cramps Abnormal cerebellum morphology Generalized myoclonic seizures Sudden cardiac death Sensory impairment Migraine Memory impairment Status epilepticus Hip dysplasia Amenorrhea Cerebral calcification Abnormality of the cardiovascular system Generalized-onset seizure Bilateral sensorineural hearing impairment Type II diabetes mellitus External ophthalmoplegia Ragged-red muscle fibers Nephropathy Visual field defect Focal segmental glomerulosclerosis Overlapping toe Adrenal insufficiency Aphasia Vestibular dysfunction Dysphasia Hyperkalemia Prolonged QT interval Mask-like facies Multiple lipomas Vertebral fusion Progressive sensorineural hearing impairment Glomerulopathy Basal ganglia calcification Hyperthyroidism Rhabdomyolysis Hemiplegia/hemiparesis Intestinal obstruction Ischemic stroke Cachexia Mutism Goiter Hyperkinesis Easy fatigability Growth abnormality Chronic kidney disease Atrioventricular block Decreased nerve conduction velocity Personality changes Hypercalciuria Bilateral ptosis Hemiplegia Aortic aneurysm Abnormality of mitochondrial metabolism Hyponatremia Ophthalmoparesis Polyneuropathy Polymicrogyria Abnormality of the upper limb Abnormal carotid artery morphology Clubbing of toes Decreased fertility in males Chromosomal breakage induced by crosslinking agents Hypoplastic anemia Absent testis Compensated hypothyroidism Almond-shaped palpebral fissure Prolonged G2 phase of cell cycle Complete duplication of thumb phalanx Anemic pallor Deficient excision of UV-induced pyrimidine dimers in DNA Neoplasm of head and neck Aplasia/Hypoplasia of the uvula Aplasia/Hypoplasia of fingers Pyridoxine-responsive sideroblastic anemia Abnormality of the preputium Partial duplication of thumb phalanx Aplasia/Hypoplasia of the iris Tremor Abnormality of the hypothalamus-pituitary axis Aplastic anemia Abnormality of the uterus Abnormality of the testis Abnormality of the thumb Bicornuate uterus Abnormality of femur morphology Acute monocytic leukemia Abnormal renal morphology Low-grade fever Abnormal localization of kidney Abnormality of chromosome stability Reticulocytopenia Abnormal aortic morphology Abnormality of nervous system morphology Primary hypothyroidism Duplicated collecting system Dysarthria Respiratory insufficiency Nausea Congenital cataract Developmental regression Abnormality of the pinna Erythema Nyctalopia Generalized tonic-clonic seizures Arthrogryposis multiplex congenita Ophthalmoplegia Carious teeth Anxiety Nausea and vomiting Dysmetria Paresthesia Confusion Ichthyosis Peripheral axonal neuropathy Lactic acidosis Proteinuria Myalgia Blindness Hyporeflexia Myopathy Cerebellar atrophy Vomiting Dystonia Depressivity Encephalopathy Arrhythmia Elevated serum creatine phosphokinase EEG abnormality Cerebellar hypoplasia Rod-cone dystrophy Dementia Myoclonus Gait ataxia Autism Gastroesophageal reflux Photophobia Abnormality of the pulmonary veins



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Myopia and Narrow forehead, related diseases and genetic alterations Dysarthria and Hypertrichosis, related diseases and genetic alterations

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