Congestive heart failure, and Congenital cataract

Diseases related with Congestive heart failure and Congenital cataract

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


Top matches:

High match PEROXISOME BIOGENESIS DISORDER 9B; PBD9B


While most patients of PBD complementation group 11 manifest rhizomelic chondrodysplasia punctata (RCDP1 ), a few have been reported with unusually mild phenotypes with longer survival, less neurologic involvement, normal or near-normal growth, and absence of rhizomelia (Braverman et al., 2002). In some cases this phenotype was indistinguishable from that of classic Refsum disease (OMIM ) and patients carried this diagnosis.Individuals with PBDs of complementation group 11 (CG11, equivalent to CGR) have mutations in the PEX7 gene. For information on the history of PBD complementation groups, see {214100}.

PEROXISOME BIOGENESIS DISORDER 9B; PBD9B Is also known as refsum disease, adult, 2|peroxisome biogenesis disorder, pex7-related, atypical

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 9B; PBD9B

High match PHEOCHROMOCYTOMA


Pheochromocytomas are catecholamine-secreting tumors that usually arise within the adrenal medulla. Approximately 10% arise in extraadrenal sympathetic ganglia, and are referred to as 'paragangliomas.' Approximately 10% are malignant, and approximately 10% are hereditary (Maher and Eng, 2002; Dluhy, 2002).Bolande (1974) introduced the concept and designation of the neurocristopathies, and identified 'simple,' including pheochromocytoma and medullary carcinoma of the thyroid, and 'complex' neurocristopathies and neurocristopathic syndromes, including NF1 and MEN2.Knudson and Strong (1972) applied Knudson's 2-mutation theory to pheochromocytoma (see discussion in {180200}) and concluded that it fits.Maher and Eng (2002) reviewed the clinical entities and genes associated with pheochromocytoma.

PHEOCHROMOCYTOMA Is also known as pheochromocytoma, susceptibility to

Related symptoms:

  • Neoplasm
  • Hypertension
  • Tremor
  • Fatigue
  • Congestive heart failure


SOURCES: ORPHANET OMIM MENDELIAN

More info about PHEOCHROMOCYTOMA

High match CONGENITAL CATARACT-HYPERTROPHIC CARDIOMYOPATHY-MITOCHONDRIAL MYOPATHY SYNDROME


Congenital cataract - hypertrophic cardiomyopathy - mitochrondrial myopathy (CCM) is a mitochondrial disease (see this term) characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise.

CONGENITAL CATARACT-HYPERTROPHIC CARDIOMYOPATHY-MITOCHONDRIAL MYOPATHY SYNDROME Is also known as mtdps10|sengers syndrome|cardiomyopathy and cataract|mitochondrial dna depletion syndrome 10 (cardiomyopathic type)

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Growth delay
  • Nystagmus


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL CATARACT-HYPERTROPHIC CARDIOMYOPATHY-MITOCHONDRIAL MYOPATHY SYNDROME

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Other less relevant matches:

High match ZIMMERMANN-LABAND SYNDROME


Zimmermann-Laband syndrome (ZLS) is a rare disorder characterized by gingival fibromatosis, coarse facial appearance, and absence or hypoplasia of nails or terminal phalanges of hands and feet.

ZIMMERMANN-LABAND SYNDROME Is also known as laband syndrome|gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome|fibromatosis, gingival, with abnormal fingers, fingernails, nose, and ears, and splenomegaly

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ZIMMERMANN-LABAND SYNDROME

High 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

High match CATARACT-INTELLECTUAL DISABILITY-HYPOGONADISM SYNDROME


This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.

CATARACT-INTELLECTUAL DISABILITY-HYPOGONADISM SYNDROME Is also known as martsolf syndrome|cataract-mental retardation-hypogonadism

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CATARACT-INTELLECTUAL DISABILITY-HYPOGONADISM SYNDROME

High match ATYPICAL WERNER SYNDROME


Atypical Werner syndrome refers to a heterogeneous group of cases that are clinically diagnosed as Werner syndrome (WS; see this term) but do not carry WRN gene mutations. Similar to classical WS caused by WRN mutations, patients generally exhibit an aged appearance and common age-related disorders at earlier ages compared to the general population.

ATYPICAL WERNER SYNDROME Is also known as atypical progeroid syndrome

Related symptoms:

  • Short stature
  • Failure to thrive
  • Micrognathia
  • Hypertension
  • Skeletal muscle atrophy


SOURCES: ORPHANET MENDELIAN

More info about ATYPICAL WERNER SYNDROME

High 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

High match VICI SYNDROME


Vici syndrome is a very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency.

VICI SYNDROME Is also known as immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum|corpus callosum agenesis-cataract-immunodeficiency syndrome|dionisi-vici-sabetta-gambarara syndrome

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about VICI SYNDROME

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

Top 5 symptoms//phenotypes associated to Congestive heart failure and Congenital cataract

Symptoms // Phenotype % cases
Cataract Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Cardiomyopathy Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Failure to thrive

Uncommon Symptoms - Between 30% and 50% cases


Hypertension

Common Symptoms - More than 50% cases


Growth delay

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia

Common Symptoms - More than 50% cases


Muscular hypotonia

Uncommon Symptoms - Between 30% and 50% cases


Hearing impairment Muscle weakness Acidosis Feeding difficulties in infancy Motor delay Weight loss Microcephaly Tremor Fatigue Myopathy Abnormal facial shape Cardiac arrest Hypertrophic cardiomyopathy Dyspnea Cerebral cortical atrophy Respiratory distress Respiratory insufficiency Feeding difficulties Nystagmus Ataxia Sensorineural hearing impairment Abnormality of retinal pigmentation Peripheral neuropathy Short stature Gait ataxia Cerebellar hypoplasia Mental deterioration Ventriculomegaly Encephalopathy Hypogonadism Decreased body weight Headache Polymicrogyria Clonus Lactic acidosis Dilated cardiomyopathy Strabismus Optic atrophy Aciduria Increased serum lactate Micrognathia Lethargy Hepatic steatosis Anorexia Intellectual disability, severe Hemiplegia Hepatomegaly High palate Depressivity Spasticity Cardiorespiratory arrest Easy fatigability Ragged-red muscle fibers Exercise intolerance Depressed nasal bridge Pulmonary arterial hypertension Low-set ears Left ventricular hypertrophy Arrhythmia Rod-cone dystrophy Polyneuropathy Nausea Retinopathy Proteinuria

Rare Symptoms - Less than 30% cases


Hip dysplasia Hypertonia EEG abnormality Blindness Type II diabetes mellitus Delayed puberty Anemia Visual impairment Renal insufficiency Dementia Diabetes mellitus Osteoporosis High forehead Cerebellar atrophy Nephropathy Hyperreflexia Bilateral sensorineural hearing impairment Posteriorly rotated ears Macrotia Coarse facial features Protruding ear Joint hypermobility Hirsutism Thick vermilion border Glycosuria Skeletal muscle atrophy Hypertrichosis Flexion contracture Gingival overgrowth Generalized hirsutism Hypertelorism Growth abnormality Ptosis Difficulty walking Confusion Ventricular hypertrophy Hyperlordosis Abnormal macular morphology Abnormality of the cerebellar vermis Ichthyosis Nyctalopia Postnatal growth retardation Epicanthus Autism Peripheral axonal neuropathy Long philtrum Muscular hypotonia of the trunk Cerebral atrophy Pes planus Hyporeflexia Recurrent respiratory infections Severe global developmental delay Short palm Malabsorption Memory impairment Abnormality of the skeletal system Paresthesia Retinal degeneration Decreased liver function Metabolic acidosis Neutropenia Pigmentary retinopathy Renal tubular dysfunction Psychosis Prematurely aged appearance Slurred speech Hypogonadotrophic hypogonadism Visual loss Abnormality of immune system physiology Hypotelorism Dilatation Intellectual disability, progressive Downslanted palpebral fissures Dysarthria Episodic vomiting Abnormality of the pinna Proximal tubulopathy Organic aciduria Mitochondrial myopathy Myalgia Abnormality of mitochondrial metabolism Thrombocytopenia Rhabdomyolysis Premature ovarian insufficiency Jaundice Pain Fever Myopia Gait disturbance Hematuria Respiratory failure Hemiparesis Dysphagia Macrocephaly Vomiting Diarrhea Elevated serum creatine phosphokinase Areflexia Generalized muscle weakness Hemangioma Stroke Abnormality of the renal tubule Drowsiness Respiratory tract infection Nausea and vomiting Heterotopia Type I diabetes mellitus Exercise-induced myalgia Pancreatitis Mutism Muscle cramps Coma Pulmonary hypoplasia Scoliosis Abnormality of the liver Cognitive impairment Hypopigmentation of hair Hyperammonemia Leukopenia Polycystic kidney dysplasia Fatigable weakness IgG deficiency Poor head control Recurrent viral infections Aspiration pneumonia Spastic tetraparesis Hypoplasia of the thymus Aplasia/Hypoplasia of the corpus callosum Recurrent bacterial infections Cellular immunodeficiency Scapular winging Severe failure to thrive Increased body weight Depressed nasal tip Leukodystrophy Fair hair Abnormal cortical gyration Severe sensorineural hearing impairment Neurodevelopmental delay Aspiration Restrictive ventilatory defect Renal tubular acidosis Hypoplasia of the pons Stridor Centrally nucleated skeletal muscle fibers Difficulty climbing stairs Bronchitis Macular atrophy Combined immunodeficiency Infantile muscular hypotonia Albinism Chronic mucocutaneous candidiasis Back pain Ventricular fibrillation Ocular albinism Congenital sensorineural hearing impairment Poor suck Acute kidney injury Adducted thumb Optic neuropathy Myoglobinuria Lymphopenia Elevated plasma acylcarnitine levels Loss of ability to walk Defective dehydrogenation of isovaleryl CoA and butyryl CoA Abnormality of branched chain family amino acid metabolism Acute pancreatitis Respiratory arrest Fatigable weakness of neck muscles Fatigable weakness of distal limb muscles Hypersarcosinemia Generalized aminoaciduria Oliguria Ethylmalonic aciduria Reye syndrome-like episodes Reduced protein C activity Ketotic hypoglycemia Abnormal corpus callosum morphology Increased muscle lipid content Glutaric aciduria Glutaric acidemia Arthralgia of the hip Progressive spastic quadriplegia Personality disorder Gastrointestinal inflammation Narcolepsy Cataplexy Renal cortical cysts Limb tremor Hypoglycemic coma Impaired mastication Nonketotic hypoglycemia Hepatic periportal necrosis Electron transfer flavoprotein-ubiquinone oxidoreductase defect Progressive microcephaly Wide nose Open mouth Progressive neurologic deterioration Cerebellar vermis hypoplasia Narrow forehead Decreased antibody level in blood Delayed myelination Sepsis Ketosis Progressive proximal muscle weakness Triangular face Hypopigmentation of the skin Ketonuria Sleep disturbance High, narrow palate Cleft upper lip Recurrent fungal infections Joint stiffness Cleft lip Excessive daytime somnolence Agenesis of corpus callosum Pneumonia Hypospadias Recurrent infections Immunodeficiency Chronic fatigue Anteverted nares Hypoketotic hypoglycemia Cleft palate Medulloblastoma Abnormality of blood glucose concentration Hypopigmentation of the fundus Seborrheic dermatitis Morphological abnormality of the inner ear Vertebral fusion Hyperkalemia Paronychia Spotty hypopigmentation Hemeralopia Visual field defect Prolonged QT interval Multiple lipomas Progressive sensorineural hearing impairment Abnormal mitochondrial morphology Glomerulopathy Basal ganglia calcification Hyperthyroidism Thyroiditis Primary adrenal insufficiency Pulmonary embolism Distal arthrogryposis Atopic dermatitis Dysphasia Vestibular dysfunction Abnormality of visual evoked potentials Intestinal obstruction Cachexia Decreased nerve conduction velocity Hypercalciuria Bilateral ptosis Aortic aneurysm Hyponatremia Ophthalmoparesis Personality changes Aplasia/Hypoplasia of the cerebellum Aphasia Bifid scrotum Mask-like facies Hemiplegia/hemiparesis Focal segmental glomerulosclerosis Abnormality of neuronal migration Overlapping toe Adrenal insufficiency Bundle branch block Hashimoto thyroiditis Crohn's disease Chronic kidney disease Facial diplegia Abnormality of peripheral nerve conduction Retinal pigment epithelial atrophy Speech apraxia Left ventricular failure Posterior subcapsular cataract Transient ischemic attack Delusions Aortic dissection Hemianopia Tubulointerstitial nephritis Visual hallucinations Increased CSF lactate Wolff-Parkinson-White syndrome Cerebral ischemia Reduced consciousness/confusion Gait imbalance Anterior hypopituitarism Ileus Motor polyneuropathy Neonatal hypoglycemia Amaurosis fugax Vitiligo Xerostomia Psychotic episodes Tubulointerstitial abnormality Heart block Renal Fanconi syndrome Abnormal nerve conduction velocity Auditory hallucinations Gastroparesis Dysesthesia Hypoparathyroidism Spontaneous hematomas Leber optic atrophy Progressive external ophthalmoplegia Persistence of primary teeth Writer's cramp Muscle fiber atrophy Psychomotor deterioration Atrioventricular block Hyperkinesis Abnormal posturing Abdominal pain Short neck Abnormality of the dentition Dystonia Kyphosis Delayed skeletal maturation Constipation Myoclonus Hypothyroidism White matter neuronal heterotopia Gastroesophageal reflux Photophobia Anxiety Apnea Developmental regression Episodic quadriplegia Abnormality of acid-base homeostasis Erythema Acute bronchitis Severe T-cell immunodeficiency Neurological speech impairment Abnormality of the thymus Granulocytopenia Pontocerebellar atrophy Abnormality of the mandible Decreased proportion of CD4-positive T cells Recurrent aspiration pneumonia Morphological abnormality of the vestibule of the inner ear Bilateral intracranial calcifications Abnormality of the optic disc Muscle flaccidity Penile hypospadias Schizencephaly Frontoparietal polymicrogyria Abnormal immunoglobulin level Cutaneous anergy Decreased T cell activation Aplasia/Hypoplasia of the macula Stroke-like episode Immunoglobulin IgG2 deficiency Attention deficit hyperactivity disorder Pruritus Goiter Cerebral visual impairment Cerebral calcification Abnormality of the cardiovascular system Generalized-onset seizure Nephrotic syndrome Status epilepticus Atrial fibrillation Involuntary movements Hallucinations Truncal ataxia Specific learning disability EMG abnormality Purpura Macular degeneration External ophthalmoplegia Reduced tendon reflexes Ischemic stroke Hypopigmented skin patches Schizophrenia Amenorrhea Migraine Generalized tonic-clonic seizures Postural instability Homonymous hemianopia Arthrogryposis multiplex congenita Ophthalmoplegia Carious teeth Anal atresia Dysmetria Vertigo Abnormal cochlea morphology Abnormal cerebellum morphology Sensory impairment Generalized myoclonic seizures Paralytic ileus Abnormal mitochondrial shape Cochlear degeneration Sudden cardiac death Progressive night blindness Cochlear malformation Edema of the dorsum of hands Ureteral atresia Aplasia/Hypoplasia of the eyebrow Wide anterior fontanel Metaphyseal widening Thick lower lip vermilion Nephrolithiasis Thickened skin Hemivertebrae Accelerated skeletal maturation Spina bifida occulta Large for gestational age Intellectual disability, profound Anonychia Pericardial effusion Aortic root aneurysm Protruding tongue Broad ribs Dystrophic fingernails Thin bony cortex Small nail Overgrowth Long penis Umbilical hernia Splenomegaly Hernia Patent ductus arteriosus Polydactyly Mandibular prognathia Polyhydramnios Hepatosplenomegaly Macroglossia Wide mouth Broad forehead Synophrys Bulbous nose Thick eyebrow Short distal phalanx of finger Delayed eruption of teeth Colpocephaly Gingival fibromatosis Brachydactyly Apathy Abnormality of extrapyramidal motor function Pancytopenia Broad-based gait Recurrent urinary tract infections Atherosclerosis Ectopia lentis Disproportionate tall stature Hemolytic anemia Thromboembolism Megaloblastic anemia Cor pulmonale Methylmalonic aciduria Homocystinuria Myelopathy Gastritis Urinary incontinence Long face Hyperextensibility of the finger joints Short distal phalanx of toe Cavernous hemangioma Biliary atresia Generalized hypertrichosis Everted upper lip vermilion Aortic arch aneurysm Prominent eyelashes Mesiodens Abnormality of skin pigmentation Hydrocephalus Reduced visual acuity Arthritis Hip dislocation Lower limb muscle weakness Smooth philtrum Unsteady gait Wide nasal bridge Depletion of mitochondrial DNA in muscle tissue Hemolytic-uremic syndrome Cerebral hemorrhage Chest pain Palpitations Cafe-au-lait spot Dysphonia Hypercalcemia Glomerulosclerosis Aniridia Pallor Episodic abdominal pain Vocal cord paralysis Raynaud phenomenon Flushing Neoplasm of the endocrine system Pheochromocytoma Paraganglioma Tachycardia Carcinoma Cranial nerve compression Anosmia Pes cavus Skeletal dysplasia Autistic behavior Progressive visual loss Rhizomelia Sensorimotor neuropathy Hammertoe Conductive hearing impairment Distal lower limb amyotrophy Short 5th metacarpal Calcific stippling Polyneuritis Elevated levels of phytanic acid Neoplasm Hyperhidrosis Sinus tachycardia Albuminuria Abnormal muscle fiber protein expression Right ventricular hypertrophy Tachypnea Eosinophilia Recurrent upper respiratory tract infections Abnormal electroretinogram Hypoplasia of the brainstem Meningocele Skeletal myopathy Esotropia 3-Methylglutaconic aciduria Abnormal myelination Decreased activity of mitochondrial respiratory chain Fatty replacement of skeletal muscle Inferior vermis hypoplasia Infantile axial hypotonia Exercise-induced lactic acidemia Corneal dystrophy Osteopenia Recurrent paroxysmal headache Episodic hyperhidrosis Renal artery stenosis Pulsatile tinnitus Episodic paroxysmal anxiety Adrenal pheochromocytoma Hypertension associated with pheochromocytoma Hypertensive retinopathy Panic attack Extraadrenal pheochromocytoma Glaucoma Elevated urinary epinephrine Elevated urinary dopamine Paraganglioma of head and neck Positive regitine blocking test Paroxysmal vertigo Elevated urinary norepinephrine Episodic hypertension Right ventricular failure Atrophy of the spinal cord Renal dysplasia Osteolytic defects of the phalanges of the hand Secondary amenorrhea Insulin-resistant diabetes mellitus Neoplasm of the lung Fragile nails Progeroid facial appearance Meningioma Renal neoplasm Sparse body hair Osteosarcoma Abnormality of the cerebral vasculature Peripheral arterial stenosis Pili torti Abnormality of the testis Lack of skin elasticity Prominent superficial veins Ovarian neoplasm Telangiectasia of the skin White forelock Abnormality of the voice Increased bone mineral density Finger clinodactyly Neoplasm of the skin Reduced bone mineral density Laryngomalacia Hyperinsulinemia Abnormality of the thorax Aplasia/Hypoplasia of the skin Hyperglycemia Rocker bottom foot Calf muscle hypertrophy Premature graying of hair Coronary artery atherosclerosis Decreased fertility Lipoatrophy Chondrocalcinosis Abnormality of the pulmonary artery Abnormality of the hair Joint hyperflexibility Hypoglycemia Elevated hepatic transaminase Proximal muscle weakness Telecanthus Abnormality of the cerebral white matter Limb muscle weakness Renal cyst Behavioral abnormality Tetraplegia Gliosis Waddling gait Cardiomegaly Tetraparesis Abnormality of the genital system Pachygyria Arthralgia Edema Abnormal hair quantity Neoplasm of the small intestine Generalized lipodystrophy Neoplasm of the breast Aortic valve calcification Fasting hyperinsulinemia Abnormal hair whorl Abnormality of the Achilles tendon Subcutaneous calcification Abnormality of circulating leptin level Neoplasm of the thyroid gland Intervertebral disc degeneration Premature arteriosclerosis Neoplasm of the oral cavity Progressive clavicular acroosteolysis Patchy hypo- and hyperpigmentation Sclerosis of hand bone Narrow face Aortic valve stenosis Methylmalonic acidemia Intellectual disability, moderate Midface retrusion Pectus excavatum Severe short stature Brachycephaly Micropenis Joint laxity Low-set, posteriorly rotated ears Malar flattening Abnormal pyramidal sign Short philtrum Pectus carinatum Talipes Everted lower lip vermilion Microcornea Hypoplasia of the maxilla Microphthalmia Talipes equinovarus Short metacarpal Decreased adenosylcobalamin Chronic hemolytic anemia Abnormality of macular pigmentation Delirium Urogenital fistula Decreased methylcobalamin Hyperhomocystinemia Decreased methionine synthase activity Cryptorchidism Vitamin B12 deficiency Cystathioninuria Hypomethioninemia Decreased methylmalonyl-CoA mutase activity Diffuse hepatic steatosis Cystathioninemia Thyroglossal cyst Broad nasal tip Growth hormone deficiency Skin ulcer Alopecia Abnormality of the distal phalanx of finger Osteopathia striata Broad fingertip Prominent antitragus Prominent nipples Slender ulna Hyperkeratosis Furrowed tongue Hypotrichosis Thin vermilion border Limitation of joint mobility Convex nasal ridge Mitral valve prolapse Hypertriglyceridemia Thin skin Talipes valgus Misalignment of teeth Lumbar hyperlordosis Abnormality of the hand Low posterior hairline Postnatal microcephaly Short phalanx of finger Short toe Hypergonadotropic hypogonadism Knee flexion contracture Abnormal dermatoglyphics Epiphyseal dysplasia Abnormal toenail morphology Bilateral cryptorchidism Metatarsus adductus Spastic diplegia Ulnar deviation of finger Thoracic scoliosis Tracheomalacia Abnormality of the antihelix Prominent ear helix



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