Cardiomyopathy, and Type I diabetes mellitus

Diseases related with Cardiomyopathy and Type I diabetes mellitus

In the following list you will find some of the most common rare diseases related to Cardiomyopathy and Type I diabetes mellitus that can help you solving undiagnosed cases.


Top matches:

Medium match WOLFRAM SYNDROME 1; WFS1


Wolfram syndrome-1 is a rare and severe autosomal recessive neurodegenerative disease characterized by diabetes mellitus, optic atrophy, diabetes insipidus, and deafness (DIDMOAD). Additional clinical features may include renal abnormalities, ataxia, dementia or mental retardation, and diverse psychiatric illnesses. The minimal diagnostic criteria for Wolfram syndrome are optic atrophy and diabetes mellitus of juvenile onset. Hearing impairment in Wolfram syndrome is typically progressive and mainly affects the higher frequencies, but a small fraction of affected individuals have congenital deafness (summary by Rendtorff et al., 2011).Autosomal dominant mutations in the WFS1 gene have been found to cause low-frequency nonsyndromic deafness (OMIM ) as well as a Wolfram syndrome-like phenotype (OMIM ) in which affected individuals have hearing impairment with diabetes mellitus and/or optic atrophy. Genetic Heterogeneity of Wolfram SyndromeWolfram syndrome-2 (WFS2 ) is caused by mutation in the CISD2 gene (OMIM ) on chromosome 4q24.

WOLFRAM SYNDROME 1; WFS1 Is also known as diabetes insipidus and mellitus with optic atrophy and deafness|wfs|didmoad

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about WOLFRAM SYNDROME 1; WFS1

Medium match MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY; MADD


Glutaric aciduria II (GA2) is an autosomal recessively inherited disorder of fatty acid, amino acid, and choline metabolism. It differs from GA I (GA1 ) in that multiple acyl-CoA dehydrogenase deficiencies result in large excretion not only of glutaric acid, but also of lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids. GA II results from deficiency of any 1 of 3 molecules: the alpha (ETFA) and beta (ETFB) subunits of electron transfer flavoprotein, and electron transfer flavoprotein dehydrogenase (ETFDH). The clinical picture of GA II due to the different defects appears to be indistinguishable; each defect can lead to a range of mild or severe cases, depending presumably on the location and nature of the intragenic lesion, i.e., mutation, in each case (Goodman, 1993; Olsen et al., 2003).The heterogeneous clinical features of patients with MADD fall into 3 classes: a neonatal-onset form with congenital anomalies (type I), a neonatal-onset form without congenital anomalies (type II), and a late-onset form (type III). The neonatal-onset forms are usually fatal and are characterized by severe nonketotic hypoglycemia, metabolic acidosis, multisystem involvement, and excretion of large amounts of fatty acid- and amino acid-derived metabolites. Symptoms and age at presentation of late-onset MADD are highly variable and characterized by recurrent episodes of lethargy, vomiting, hypoglycemia, metabolic acidosis, and hepatomegaly often preceded by metabolic stress. Muscle involvement in the form of pain, weakness, and lipid storage myopathy also occurs. The organic aciduria in patients with the late-onset form of MADD is often intermittent and only evident during periods of illness or catabolic stress (summary by Frerman and Goodman, 2001).Importantly, riboflavin treatment has been shown to ameliorate the symptoms and metabolic profiles in many MADD patients, particularly those with type III, the late-onset and mildest form (Liang et al., 2009).

MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY; MADD Is also known as ema|ethylmalonic-adipicaciduria|glutaric aciduria ii|ga ii|glutaric acidemia ii|ga2

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY; MADD

Medium 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

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Other less relevant matches:

Medium 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 SHWACHMAN-DIAMOND SYNDROME


Shwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia, pancreatic exocrine insufficiency associated with steatorrhea and growth failure, skeletal dysplasia with short stature, and an increased risk of bone marrow aplasia or leukemic transformation.

SHWACHMAN-DIAMOND SYNDROME Is also known as pancreatic insufficiency and bone marrow dysfunction|shwachman syndrome|shwachman-bodian syndrome|shwachman-diamond syndrome|shwachman-bodian-diamond syndrome|sds|lipomatosis of pancreas, congenital

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about SHWACHMAN-DIAMOND SYNDROME

Low match MT-ATP6-RELATED MITOCHONDRIAL SPASTIC PARAPLEGIA


MT-ATP6-related mitochondrial spastic paraplegia is a rare, genetic, complex hereditary spastic paraplegia disorder characterized by adulthood-onset of slowly progressive, bilateral, mainly lower limb spasticity and distal weakness associated with lower limb pain, hyperreflexia, and reduced vibration sense. Axonal neuropathy is frequently observed on electromyography and nerve conduction examination.

MT-ATP6-RELATED MITOCHONDRIAL SPASTIC PARAPLEGIA Is also known as maternally-inherited spastic paraplegia|maternally-inherited spg

Related symptoms:

  • Hyperreflexia
  • Optic atrophy
  • Cardiomyopathy
  • Babinski sign
  • Diabetes mellitus


SOURCES: ORPHANET MENDELIAN

More info about MT-ATP6-RELATED MITOCHONDRIAL SPASTIC PARAPLEGIA

Low match PROXIMAL MYOPATHY WITH EXTRAPYRAMIDAL SIGNS


Proximal myopathy with extrapyramidal signs is a rare, hereditary non-dystrophic myopathy characterized by proximal muscle weakness, delayed motor development, learning difficulties, and progressive extrapyramidal motor signs including chorea, dystonia and tremor. Variable additional features have been reported - ataxia, microcephaly, ophthalmoplegia, ptosis, and optic atrophy.

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Ataxia
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about PROXIMAL MYOPATHY WITH EXTRAPYRAMIDAL SIGNS

Low match HYPERTROPHIC CARDIOMYOPATHY AND RENAL TUBULAR DISEASE DUE TO MITOCHONDRIAL DNA MUTATION


Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation is a mitochondrial oxidative phosphorylation disorder characterized by hypertrophic and dilated cardiomyopathy, failure to thrive, myopathy with generalized hypotonia and increased creatine kinase, developmental delay and/or regression with cerebral atrophy on brain MRI, renal manifestations including chronic renal failure, renal tubular acidosis and lactic acidosis. Additional clinical features include seizures and respiratory failure.

HYPERTROPHIC CARDIOMYOPATHY AND RENAL TUBULAR DISEASE DUE TO MITOCHONDRIAL DNA MUTATION Is also known as hypertrophic cardiomyopathy and renal tubular disease due to mtdna mutation

Related symptoms:

  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment
  • Anemia
  • Hepatomegaly


SOURCES: ORPHANET MENDELIAN

More info about HYPERTROPHIC CARDIOMYOPATHY AND RENAL TUBULAR DISEASE DUE TO MITOCHONDRIAL DNA MUTATION

Low match GLYCOGEN STORAGE DISEASE WITH SEVERE CARDIOMYOPATHY DUE TO GLYCOGENIN DEFICIENCY


Glycogen storage disease type 15 is an extremely rare genetic glycogen storage disease reported in one patient to date. Clinical signs included muscle weakness, cardiac arrhythmia associated with accumulation of abnormal storage material in the heart and glycogen depletion in skeletal muscle.

GLYCOGEN STORAGE DISEASE WITH SEVERE CARDIOMYOPATHY DUE TO GLYCOGENIN DEFICIENCY Is also known as gyg1 deficiency|glycogen storage disease type xv|glycogenosis with severe cardiomyopathy due to glycogenin deficiency|glycogenin deficiency|gsd type 15|glycogen storage disease type 15|glycogenosis type 15|glycogenosis type xv|gsd xv|gsd type xv|gsd with

Related symptoms:

  • Muscle weakness
  • Peripheral neuropathy
  • Respiratory distress
  • Cardiomyopathy
  • Myopathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about GLYCOGEN STORAGE DISEASE WITH SEVERE CARDIOMYOPATHY DUE TO GLYCOGENIN DEFICIENCY

Low match HEMOCHROMATOSIS TYPE 2


Hemochromatosis type 2 (juvenile) is the early-onset and most severe form of rare hereditary hemochromatosis (HH; see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin.

HEMOCHROMATOSIS TYPE 2 Is also known as juvenile hemochromatosis

Related symptoms:

  • Muscle weakness
  • Pain
  • Hypertension
  • Hepatomegaly
  • Cardiomyopathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about HEMOCHROMATOSIS TYPE 2

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Type I diabetes mellitus

Symptoms // Phenotype % cases
Diabetes mellitus Common - Between 50% and 80% cases
Hepatomegaly Common - Between 50% and 80% cases
Respiratory distress Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Muscle weakness Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cardiomyopathy and Type I diabetes mellitus. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Intellectual disability Hearing impairment Ataxia Arrhythmia Headache Congestive heart failure Hypogonadism Hypertrophic cardiomyopathy Abnormality of the liver Short stature Failure to thrive Anemia Hypothyroidism Weight loss Myopathy Peripheral axonal neuropathy Cataract Optic atrophy Fatigue Tremor Growth delay Ptosis Peripheral neuropathy Ragged-red muscle fibers Dysphagia Pain Motor delay Fever Gait disturbance Dysarthria Left ventricular hypertrophy Specific learning disability Increased serum lactate Elevated serum creatine phosphokinase Dyspnea Difficulty walking Elevated hepatic transaminase Lethargy Dilated cardiomyopathy Sensorineural hearing impairment Seizures Depressivity Microcephaly Nystagmus Diarrhea Hyperreflexia Renal insufficiency Thrombocytopenia Vertigo

Rare Symptoms - Less than 30% cases


Abnormal mitochondrial shape Anorexia Generalized muscle weakness Bone marrow hypocellularity Abnormality of the skeletal system Abnormality of the genital system Ventriculomegaly Cardiomegaly Abnormal mitochondrial morphology Visual impairment Azoospermia Increased CSF lactate Muscle cramps Decreased liver function Pancytopenia Coma Abnormality of the kidney Hypogonadotrophic hypogonadism Lactic acidosis Nausea Nausea and vomiting Neutropenia Congenital cataract Leukemia Small for gestational age Leukopenia Cardiac arrest Clonus Cardiorespiratory arrest Constipation Myelodysplasia Myeloid leukemia Acute myeloid leukemia Glomerulopathy Multiple lipomas Aplastic anemia Abnormality of the renal tubule Episodic vomiting Proximal tubulopathy Bundle branch block Acute monocytic leukemia Focal segmental glomerulosclerosis Hypopigmented skin patches Myoglobinuria Respiratory tract infection Rhabdomyolysis Ventricular fibrillation Hemiplegia Easy fatigability Mutism Scoliosis Pancreatitis Hypertelorism Scapular winging Exercise intolerance Neoplasm Drowsiness Anal atresia Abnormality of the pinna Ophthalmoplegia Feeding difficulties Muscular hypotonia Abnormal facial shape Strabismus Anxiety Generalized hypotonia Amenorrhea Delayed puberty Apnea Delayed skeletal maturation Malabsorption Carious teeth Abnormal cerebellum morphology Dystonia Ventricular hypertrophy Pigmentary retinopathy Osteoporosis Abdominal pain Psychosis Hypergonadotropic hypogonadism Respiratory arrest Abnormality of the urinary system Stroke-like episode Proteinuria Hypertension Hydroureter Involuntary movements Blindness Respiratory insufficiency Encephalopathy Myalgia Proximal muscle weakness Dementia Myoclonus Jaundice Ichthyosis Acidosis Cerebral atrophy Gait ataxia Areflexia Respiratory failure Cognitive impairment Vomiting Nephropathy Behavioral abnormality Mitochondrial myopathy Migraine Hypoparathyroidism Renal tubular dysfunction Tubulointerstitial nephritis Heart block Ileus Wolff-Parkinson-White syndrome Xerostomia Memory impairment Vitiligo Neonatal hypoglycemia Abnormality of visual evoked potentials Hashimoto thyroiditis Atopic dermatitis Distal arthrogryposis Pulmonary embolism Progressive external ophthalmoplegia Sudden cardiac death Sensory impairment Left ventricular failure Anterior hypopituitarism Facial diplegia Delusions Gait imbalance Seborrheic dermatitis Transient ischemic attack Aortic dissection Reduced consciousness/confusion Postural instability Speech apraxia Posterior subcapsular cataract Visual hallucinations Retinal pigment epithelial atrophy Abnormality of peripheral nerve conduction Cerebral ischemia Polyneuropathy Generalized myoclonic seizures Hip dysplasia Generalized-onset seizure Primary adrenal insufficiency Goiter Hemiparesis Aortic aneurysm Bilateral ptosis Hypercalciuria Hypertrichosis Decreased nerve conduction velocity Cachexia Atrioventricular block Hemianopia Growth abnormality Decreased body weight Hyperkinesis Schizophrenia Hyponatremia Ischemic stroke Reduced tendon reflexes External ophthalmoplegia Macular degeneration Purpura Gingival overgrowth Abnormality of retinal pigmentation Generalized hirsutism EMG abnormality Hallucinations Truncal ataxia Cerebral visual impairment Abnormality of mitochondrial metabolism Ophthalmoparesis Abnormality of immune system physiology Vestibular dysfunction Thyroiditis Hyperthyroidism Basal ganglia calcification Cerebral calcification Progressive sensorineural hearing impairment Vertebral fusion Abnormality of the cardiovascular system Prolonged QT interval Visual field defect Hyperkalemia Dysphasia Bilateral sensorineural hearing impairment Aphasia Personality changes Nephrotic syndrome Adrenal insufficiency Overlapping toe Type II diabetes mellitus Abnormality of neuronal migration Pulmonary arterial hypertension Status epilepticus Hemiplegia/hemiparesis Mask-like facies Bifid scrotum Aplasia/Hypoplasia of the cerebellum Intestinal obstruction Atrial fibrillation Chronic kidney disease Intellectual disability, mild Motor polyneuropathy Orofacial dyskinesia Tachycardia Abnormal mitochondrial number Global glomerulosclerosis Peripheral edema Tubulointerstitial fibrosis Abnormal renal physiology Tubular atrophy Pleural effusion Hematuria Central core regions in muscle fibers Progressive extrapyramidal muscular rigidity Progressive extrapyramidal movement disorder Abnormal basal ganglia MRI signal intensity Abnormal posturing Insulin-resistant diabetes mellitus Foot dorsiflexor weakness Dyskinesia Progressive spastic paraplegia Impaired vibration sensation in the lower limbs Distal lower limb muscle weakness Supraventricular arrhythmia Lower limb pain Leg muscle stiffness Chorea Difficulty running Abnormality of extrapyramidal motor function Stereotypy Increased variability in muscle fiber diameter Mildly elevated creatine phosphokinase Resting tremor Centrally nucleated skeletal muscle fibers Palpitations Ventricular tachycardia Abnormal pyramidal sign Splenomegaly Elevated transferrin saturation Abnormality of the anterior pituitary Abnormality of iron homeostasis Increased serum iron Congenital hepatic fibrosis Increased serum ferritin Generalized hyperpigmentation Arthropathy Impotence Portal hypertension Hyperpigmentation of the skin Cirrhosis Infertility Arthritis Decreased muscle glycogen content EMG: myopathic abnormalities Shoulder girdle muscle weakness Ventricular arrhythmia Right bundle branch block Decreased muscle mass Exertional dyspnea Abnormal EKG Upper limb muscle weakness T-wave inversion Increased mitochondrial number Neck flexor weakness ST segment elevation Abdominal wall muscle weakness Abnormal levels of creatine kinase in blood Cardiomyocyte hypertrophy Left ventricular septal hypertrophy Lower limb spasticity Babinski sign Dysesthesia Abnormal macular morphology Morphological abnormality of the inner ear Morphological abnormality of the vestibule of the inner ear Bilateral intracranial calcifications Episodic quadriplegia Abnormality of acid-base homeostasis Homonymous hemianopia Abnormal cochlea morphology Paralytic ileus Cochlear degeneration Progressive night blindness Cochlear malformation Edema of the dorsum of hands Paronychia Spotty hypopigmentation Hemeralopia Immunodeficiency Gastroparesis Psychomotor deterioration Muscle fiber atrophy Writer's cramp Persistence of primary teeth Leber optic atrophy Spontaneous hematomas Amaurosis fugax Crohn's disease Auditory hallucinations Abnormal nerve conduction velocity Renal Fanconi syndrome Tubulointerstitial abnormality Psychotic episodes Abnormality of the cerebellar vermis Prominent ear helix Recurrent infections Irregular ossification at anterior rib ends Exocrine pancreatic insufficiency Narrow sacroiliac notch Proximal femoral epiphysiolysis Metaphyseal dysostosis Myocardial necrosis Proximal femoral metaphyseal irregularity Enlargement of the costochondral junction Paroxysmal nocturnal hemoglobinuria Persistence of hemoglobin F Metaphyseal sclerosis Anterior rib cupping Metaphyseal chondrodysplasia Recurrent aphthous stomatitis Recurrent viral infections Ovoid vertebral bodies Steatorrhea Osteopenia Apraxia Skeletal dysplasia Pectus carinatum Narrow chest Sepsis Microdontia Eczema Abnormality of the metaphysis Short thorax Hirsutism Nephrocalcinosis Recurrent bacterial infections Coxa vara Metaphyseal widening Neonatal respiratory distress Short ribs Abnormal aortic valve morphology Polymicrogyria Medulloblastoma Renal cortical cysts Limb tremor Impaired mastication Nonketotic hypoglycemia Hypoglycemic coma Personality disorder Progressive spastic quadriplegia Glutaric aciduria Oliguria Generalized aminoaciduria Acute pancreatitis Loss of ability to walk Abnormal corpus callosum morphology Exercise-induced myalgia Narcolepsy Hypoketotic hypoglycemia Organic aciduria Chronic fatigue Excessive daytime somnolence Ketonuria Progressive proximal muscle weakness Ketosis Fatigable weakness Acute kidney injury Glycosuria Difficulty climbing stairs Restrictive ventilatory defect Stridor Cataplexy Gastrointestinal inflammation Polycystic kidney dysplasia Abnormality of blood glucose concentration Patent ductus arteriosus Hypospadias Abnormality of cardiovascular system morphology Microphthalmia Atrial septal defect Hydrocephalus Frontal bossing Intrauterine growth retardation Epicanthus High palate Cryptorchidism Cleft palate Micrognathia Electron transfer flavoprotein-ubiquinone oxidoreductase defect Arthralgia of the hip Hepatic periportal necrosis Defective dehydrogenation of isovaleryl CoA and butyryl CoA Abnormality of branched chain family amino acid metabolism Fatigable weakness of neck muscles Fatigable weakness of distal limb muscles Hypersarcosinemia Ethylmalonic aciduria Reye syndrome-like episodes Reduced protein C activity Elevated plasma acylcarnitine levels Ketotic hypoglycemia Increased muscle lipid content Glutaric acidemia Back pain Slurred speech Clinodactyly of the 5th finger Polyphagia Gastric ulcer Abnormal glucose tolerance Sideroblastic anemia Pollakisuria Central diabetes insipidus Histiocytosis Testicular atrophy Neurogenic bladder Central apnea Megaloblastic anemia Dyschromatopsia Severe sensorineural hearing impairment Atrophy/Degeneration affecting the brainstem Blurred vision Diffuse leukoencephalopathy Diabetes insipidus Anosmia Sleep apnea Leukoencephalopathy Dehydration Vesicoureteral reflux Abnormal bleeding Neurodegeneration Aggressive behavior Abnormality of the nervous system Hydronephrosis Rigidity Dilatation Central sleep apnea Impaired collagen-induced platelet aggregation Poor head control Metabolic acidosis Hyperammonemia Spastic tetraparesis Leukodystrophy Wide anterior fontanel Renal dysplasia Heterotopia Pachygyria Tetraparesis Waddling gait Aciduria Gliosis Tetraplegia Renal cyst Hepatic steatosis Limited mobility of proximal interphalangeal joint Pulmonary hypoplasia Joint hyperflexibility Limb muscle weakness Abnormality of the cerebral white matter Hyperlordosis Telecanthus Hypoglycemia Arthralgia High forehead Edema Macrocephaly Depressed nasal bridge Spasticity Abnormal heart morphology Severe short stature Confusion Partial duplication of thumb phalanx Aplasia/Hypoplasia of the uvula Neoplasm of head and neck Deficient excision of UV-induced pyrimidine dimers in DNA Anemic pallor Prolonged G2 phase of cell cycle Abnormal carotid artery morphology Almond-shaped palpebral fissure Compensated hypothyroidism Absent testis Hypoplastic anemia Chromosomal breakage induced by crosslinking agents Decreased fertility in males Clubbing of toes Complete duplication of thumb phalanx Pyridoxine-responsive sideroblastic anemia Aplasia/Hypoplasia of the iris Low-grade fever Meckel diverticulum Duplicated collecting system Duodenal stenosis Primary hypothyroidism Abnormality of nervous system morphology Abnormal aortic morphology Reticulocytopenia Abnormality of chromosome stability Abnormal localization of kidney Abnormal renal morphology Abnormality of the hypothalamus-pituitary axis Aplasia/Hypoplasia of fingers Abnormality of the preputium Bicornuate uterus Mental deterioration Paresthesia Dysmetria Arthrogryposis multiplex congenita Generalized tonic-clonic seizures Pruritus Neurological speech impairment Stroke Attention deficit hyperactivity disorder Nyctalopia Erythema Protruding ear Developmental regression Feeding difficulties in infancy EEG abnormality Skeletal muscle atrophy Photophobia Gastroesophageal reflux Autism Cerebral cortical atrophy Rod-cone dystrophy Cerebellar hypoplasia Hyporeflexia Visual loss Kyphosis Hypertonia Abnormality of the dentition Cerebellar atrophy Short neck Abnormality of femur morphology Abnormality of the thumb Upslanted palpebral fissure Astigmatism Telangiectasia Recurrent urinary tract infections Aganglionic megacolon Choanal atresia Short palpebral fissure Oligohydramnios Sloping forehead Tetralogy of Fallot Renal agenesis Lymphoma Hypopigmentation of the skin Bruising susceptibility Abnormality of skin pigmentation Facial asymmetry Short thumb Abnormality of the foot Toe syndactyly Dolichocephaly Hip dislocation Finger syndactyly Abnormal cardiac septum morphology Postnatal growth retardation Irritability Abnormality of the eye Carcinoma Pes planus Umbilical hernia Proptosis Cafe-au-lait spot Insulin resistance Abnormality of the testis Multiple cafe-au-lait spots Abnormality of the uterus Abnormality of the upper limb B-cell lymphoma Arteriovenous malformation Abnormality of the ulna Abnormal eyelid morphology Chromosome breakage Hearing abnormality External ear malformation Irregular hyperpigmentation Aplasia/Hypoplasia of the radius Absent radius Abnormality of blood and blood-forming tissues Absent thumb Abnormal vertebral morphology Ectopic kidney Squamous cell carcinoma Hypoplasia of the ulna Glucose intolerance Tracheoesophageal fistula Triphalangeal thumb Hyperinsulinemia Abnormality of vision Reduced bone mineral density Renal hypoplasia/aplasia Cranial nerve paralysis Horseshoe kidney Spina bifida Abnormality of endocrine pancreas physiology



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