Congestive heart failure, and Photophobia

Diseases related with Congestive heart failure and Photophobia

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


Top matches:

High match SPINOCEREBELLAR ATAXIA TYPE 7


Spinocerebellar ataxia type 7 (SCA7), currently the only known form of autosomal dominant cerebellar ataxia type 2 (ADCA2; see this term), is a neurodegenerative disorder characterized by progressive ataxia, motor system abnormalities, dysarthria, dysphagia and retinal degeneration leading to progressive blindness.

SPINOCEREBELLAR ATAXIA TYPE 7 Is also known as ataxia with pigmentary retinopathy|sca7|cerebellar syndrome-pigmentary maculopathy syndrome

Related symptoms:

  • Global developmental delay
  • Ataxia
  • Nystagmus
  • Failure to thrive
  • Muscle weakness


SOURCES: ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 7

High match LONG CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY


Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a mitochondrial disorder of long chain fatty acid oxidation characterized in most patients by onset in infancy/ early childhood with hypoketotic hypoglycemia, metabolic acidosis, liver disease, hypotonia and frequently cardiac involvement with arrhythmias and/or cardiomyopathy.

LONG CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY Is also known as lchad deficiency|long-chain 3-hydroxyacyl-coenzyme a dehydrogenase deficiency|lchadd

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about LONG CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY

High match CRANIOECTODERMAL DYSPLASIA


Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis and ocular anomalies (mainly retinitis pigmentosa).

CRANIOECTODERMAL DYSPLASIA Is also known as levin syndrome i|sensenbrenner syndrome|ced

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Growth delay
  • Nystagmus


SOURCES: OMIM ORPHANET MENDELIAN

More info about CRANIOECTODERMAL DYSPLASIA

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Other less relevant matches:

High match SARCOIDOSIS


Sarcoidosis is a multisystemic disorder of unknown cause characterized by the formation of immune granulomas in involved organs.

SARCOIDOSIS Is also known as boeck sarcoid|besnier-boeck-schaumann disease|sarcoidosis|boeck's sarcoid

Related symptoms:

  • Seizures
  • Pain
  • Cataract
  • Anemia
  • Visual impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about SARCOIDOSIS

High match PRADER-WILLI SYNDROME; PWS


Prader-Willi syndrome is characterized by diminished fetal activity, obesity, muscular hypotonia, mental retardation, short stature, hypogonadotropic hypogonadism, and small hands and feet. It can be considered to be an autosomal dominant disorder and is caused by deletion or disruption of a gene or several genes on the proximal long arm of the paternal chromosome 15 or maternal uniparental disomy 15, because the gene(s) on the maternal chromosome(s) 15 are virtually inactive through imprinting. Horsthemke and Wagstaff (2008) provided a detailed review of the mechanisms of imprinting of the Prader-Willi/Angelman syndrome (OMIM ) region.See also the chromosome 15q11-q13 duplication syndrome (OMIM ), which shows overlapping clinical features.

PRADER-WILLI SYNDROME; PWS Is also known as prader-labhart-willi syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PRADER-WILLI SYNDROME; PWS

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 ALSTRÖM SYNDROME


Alström syndrome (AS) is a multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM; see this term), and progressive hepatic and renal dysfunction.

ALSTRÖM SYNDROME Is also known as alss

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ALSTRÖM SYNDROME

Low match RETINAL ARTERIAL TORTUOSITY


Familial retinal arterial tortuosity is characterized by marked tortuosity of second- and third-order retinal arteries with normal first-order arteries and venous system. Two-thirds of patients experience variable degrees of symptomatic transient vision loss due to retinal hemorrhage following minor stress or trauma (summary by Nischler et al., 2011).

RETINAL ARTERIAL TORTUOSITY Is also known as retinal hemorrhage with vascular tortuosity|retinal arteriolar tortuosity|tortuosity of retinal arteries

Related symptoms:

  • Visual impairment
  • Dilatation
  • Visual loss
  • Photophobia
  • Hypopigmentation of the skin


SOURCES: OMIM ORPHANET MENDELIAN

More info about RETINAL ARTERIAL TORTUOSITY

Low match SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1; SPDA1


Spondyloarthropathy (SpA), one of the commonest chronic rheumatic diseases, includes a spectrum of related disorders comprising the prototype ankylosing spondylitis (AS), a subset of psoriatic arthritis (PsA), reactive arthritis (ReA), arthritis associated with inflammatory bowel disease, and undifferentiated spondyloarthropathy (Miceli-Richard et al., 2004). These phenotypes are difficult to differentiate because they may occur simultaneously or sequentially in the same patient. Studies have suggested that a predominant shared component, including HLA-B27, predisposes to all phenotypic subsets, and that these subsets should be considered as various phenotypic expressions of the same disease (Said-Nahal et al., 2000, Said-Nahal et al., 2001).Braun and Sieper (2007) provided a detailed review of ankylosing spondylitis, including clinical features, pathogenesis, and management. Genetic Heterogeneity of Susceptibility to SpondyloarthropathyAdditional susceptibility loci for spondyloarthropathy have been identified on chromosome 9q31-q34 (SPDA2 ) and chromosome 2q36 (SPDA3 ).

SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1; SPDA1 Is also known as ankylosing spondylitis, susceptibility to|marie-strumpell spondylitis|bechterew syndrome

Related symptoms:

  • Pain
  • Kyphosis
  • Arrhythmia
  • Photophobia
  • Arthritis


SOURCES: OMIM ORPHANET MENDELIAN

More info about SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1; SPDA1

Low match PITUITARY APOPLEXY


The sudden loss of blood supply to the PITUITARY GLAND, leading to tissue NECROSIS and loss of function (PANHYPOPITUITARISM). The most common cause is hemorrhage or INFARCTION of a PITUITARY ADENOMA. It can also result from acute hemorrhage into SELLA TURCICA due to HEAD TRAUMA; INTRACRANIAL HYPERTENSION; or other acute effects of central nervous system hemorrhage. Clinical signs include severe HEADACHE; HYPOTENSION; bilateral visual disturbances; UNCONSCIOUSNESS; and COMA.

Related symptoms:

  • Ptosis
  • Hypertension
  • Fever
  • Fatigue
  • Headache


SOURCES: MESH ORPHANET MENDELIAN

More info about PITUITARY APOPLEXY

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

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Pain Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Hepatomegaly Uncommon - Between 30% and 50% cases
Visual loss Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Hypertension Nystagmus Failure to thrive Feeding difficulties Anorexia Tubulointerstitial nephritis Visual impairment Fever Intellectual disability Fatigue Hypopigmentation of the skin Hepatic failure Weight loss Vomiting Renal insufficiency Growth delay Blindness Kyphosis Motor delay Abnormality of the dentition Peripheral neuropathy Cataract Respiratory failure Delayed puberty Chorioretinal atrophy Clinodactyly Nephropathy Pigmentary retinopathy Decreased liver function Abnormality of retinal pigmentation Osteoporosis Headache Respiratory distress Specific learning disability Autism Diabetes mellitus Hypogonadism Hyporeflexia Dilatation Growth hormone deficiency Cognitive impairment Short stature Arrhythmia Type II diabetes mellitus Hypogonadotrophic hypogonadism Oligomenorrhea Inflammation of the large intestine Ataxia Dyspnea Hypothyroidism Coma Carious teeth Retinal dystrophy Ophthalmoplegia Myopia Muscular hypotonia Generalized hypotonia Macular degeneration Myopathy Psychosis Cardiomyopathy Jaundice Hypoglycemia Abdominal pain Abnormality of the liver Dilated cardiomyopathy Nausea Nyctalopia

Rare Symptoms - Less than 30% cases


Emphysema Nephrocalcinosis Scarring Cough Lymphadenopathy Sudden cardiac death Psychotic episodes Infertility Hyperpigmentation of the skin Blurred vision Diabetes insipidus Stroke Hearing impairment Hypercalciuria Portal hypertension Poor fine motor coordination Pulmonary fibrosis Attention deficit hyperactivity disorder Erythema Cone/cone-rod dystrophy Arthritis Anemia Constipation Encephalopathy Depressivity Dystonia Tubulointerstitial abnormality Short neck Respiratory insufficiency Optic atrophy Hypermetropia Pruritus Hyperuricemia Skeletal muscle atrophy Hemeralopia Edema Splenomegaly Ptosis Alopecia Hepatic steatosis Ophthalmoparesis Aplasia/Hypoplasia of the cerebellum Hyperthyroidism Uveitis Sensory impairment Cerebral atrophy Amenorrhea Neonatal hypotonia Reduced visual acuity Delayed speech and language development Hip dysplasia Ventriculomegaly Behavioral abnormality Gastrointestinal hemorrhage Sleep disturbance Abnormality of the cardiovascular system Cerebellar atrophy Obesity Dysphagia Recurrent respiratory infections Dysarthria Hyperreflexia Muscle weakness Polymicrogyria Hypergonadotropic hypogonadism Strabismus Scoliosis Apnea Respiratory tract infection Heart block Hypothermia Hypoventilation Pulmonary embolism Hyponatremia Polyphagia Truncal obesity Abnormality of the cerebrospinal fluid Adrenal insufficiency Mental deterioration Glucose intolerance Pallor Anterior uveitis Hyperinsulinemia Precocious puberty Dysmetria Increased body weight Insulin resistance Abnormality of the pinna Rod-cone dystrophy Sensorineural hearing impairment Myoclonus Pulmonary arterial hypertension Elevated hepatic transaminase High palate Epicanthus Left ventricular hypertrophy Involuntary movements Elevated serum creatine phosphokinase Postnatal growth retardation Abnormality of acid-base homeostasis Protruding ear Sparse hair Posterior subcapsular cataract Dolichocephaly Stage 5 chronic kidney disease Muscle cramps Full cheeks Microcephaly Generalized hirsutism Confusion Hypertrophic cardiomyopathy Polyneuropathy Peripheral axonal neuropathy Goiter Retinopathy Hypocalcemia Tachypnea Multiple lipomas Glomerulopathy Rhabdomyolysis Pancreatitis Reduced consciousness/confusion Progressive sensorineural hearing impairment Abnormal left ventricle morphology Hepatic encephalopathy Abnormal chorioretinal morphology Hirsutism Elevated serum creatinine Chronic kidney disease Radial deviation of finger Proteinuria Bicuspid aortic valve Myalgia Generalized tonic-clonic seizures Nausea and vomiting Short toe Gastroesophageal reflux Retinal pigment epithelial atrophy Hepatic fibrosis Primary adrenal insufficiency Progressive visual loss Gait imbalance Abnormality of immune system physiology Thyroiditis Basal ganglia calcification Proximal tubulopathy Gastroparesis Abnormality of peripheral nerve conduction Distal arthrogryposis Decreased testicular size Otitis media Round face Urinary incontinence Vesicoureteral reflux Asthma Abdominal distention Ascites Tachycardia Cirrhosis Retinal degeneration Dry skin Pulmonic stenosis Hypotrichosis Spontaneous hematomas Hepatitis Cyanosis Dysphasia Overlapping toe Focal segmental glomerulosclerosis Motor polyneuropathy Psychomotor deterioration Bundle branch block Aphasia Episodic vomiting Vestibular dysfunction Thickened skin Muscle fiber atrophy Writer's cramp Recurrent urinary tract infections Recurrent otitis media Intestinal obstruction Hypertriglyceridemia Hyperkalemia Abnormality of the renal tubule Epidermal acanthosis Cardiomegaly Hemianopia Visual field defect Prolonged QT interval Persistence of primary teeth Optic disc pallor Vertebral fusion Leber optic atrophy Ileus Autistic behavior Hemiplegia/hemiparesis Drowsiness Renal tubular dysfunction Paralytic ileus Bifid scrotum Transient ischemic attack Abnormal mitochondrial shape Delusions Cardiorespiratory arrest Cochlear degeneration Facial diplegia Progressive night blindness Cochlear malformation Edema of the dorsum of hands Abnormal mitochondrial morphology Aortic dissection Paronychia Homonymous hemianopia Spotty hypopigmentation Stroke-like episode Abnormal macular morphology Anterior hypopituitarism Crohn's disease Abnormality of the cerebellar vermis Visual hallucinations Renal Fanconi syndrome Abnormal nerve conduction velocity Amaurosis fugax Auditory hallucinations Increased CSF lactate Wolff-Parkinson-White syndrome Abnormal cochlea morphology Episodic quadriplegia Atopic dermatitis Hyperkeratosis Cerebral ischemia Irritability Hashimoto thyroiditis Abnormality of the kidney Conductive hearing impairment Deeply set eye Abnormality of visual evoked potentials Neonatal hypoglycemia Hepatosplenomegaly Vitiligo Xerostomia Pes planus Kyphoscoliosis Polydactyly Progressive external ophthalmoplegia Speech apraxia Hyperhidrosis Abnormality of neuronal migration Dysesthesia Patent ductus arteriosus Hypoparathyroidism Prominent ear helix Left ventricular failure Morphological abnormality of the inner ear Mitochondrial myopathy Mask-like facies Morphological abnormality of the vestibule of the inner ear Bilateral intracranial calcifications Seborrheic dermatitis Pneumonia Right ventricular hypertrophy Chronic diarrhea Unilateral breast hypoplasia Nonproductive cough Abnormal adipose tissue morphology Chronic active hepatitis Hyperostosis frontalis interna Receptive language delay Granular macular appearance Thickened ears Dilatation of the bladder Glue ear Increased circulating androgen level Recurrent cystitis Widely-spaced incisors Abnormal retinal artery morphology Precocious puberty in females EEG with occipital slowing Abnormality of prothrombin Abnormality of renal calyx morphology Localized hirsutism Exudative retinopathy High-frequency sensorineural hearing impairment Abnormality of the femoral head Albuminuria Abnormality of the urethra Lumbar scoliosis Abnormality of dental color Epigastric pain Urethral stricture Impaired temperature sensation Female hypogonadism Abnormal muscle tone Renovascular hypertension Childhood-onset truncal obesity Squared iliac bones Urethral obstruction Abnormality of the pituitary gland Hypoplastic male external genitalia Hepatic necrosis Chronic hepatic failure Facial hirsutism ST segment depression Multifocal atrial tachycardia Vitreous haze Leukoencephalopathy Abnormal spermatogenesis Central diabetes insipidus Hypopituitarism Growth hormone excess Increased circulating cortisol level Prolactin excess Pituitary adenoma Excessive daytime somnolence Pituitary hypothyroidism Adrenocorticotropic hormone deficiency Normochromic anemia Cranial nerve paralysis Galactorrhea Mydriasis Prolactin deficiency Trigeminal neuralgia Bitemporal hemianopia Abnormal kinetic perimetry test Thunderclap headache Abnormal caudate nucleus morphology Impotence Diplopia Polycythemia Foveal hemorrhage Retinal hemorrhage Arterial tortuosity Retinal vascular tortuosity Vascular tortuosity Retinal arteriolar tortuosity Carotid artery dilatation Retinal arterial tortuosity Abnormal systemic arterial morphology Intraretinal hemorrhage Hypotension Aortic regurgitation Back pain Psoriasiform dermatitis Breathing dysregulation Chronic pain Ocular pain Hip osteoarthritis Enthesitis Sacroiliac arthritis Chronic infection Decreased glomerular filtration rate Sinusitis Bronchitis Polyuria Hydroureter Urinary urgency Abnormal retinal morphology Pericardial effusion Short finger Agenesis of permanent teeth Glycosuria Increased number of teeth Hyperostosis Subcapsular cataract Pericarditis Thoracic scoliosis Autoimmune thrombocytopenia Severe sensorineural hearing impairment Insulin-resistant diabetes mellitus Retinal atrophy Peripheral visual field loss Hyperglycemia Acne Hyperventilation Hypercholesterolemia Gynecomastia Recurrent pneumonia Horizontal nystagmus Absence seizures Accelerated skeletal maturation Acanthosis nigricans Atherosclerosis Hyperlipidemia Polycystic ovaries Impaired vibratory sensation Abnormality of the hand Cholelithiasis Elevated alkaline phosphatase Lipodystrophy Polydipsia Nephritis Chronic otitis media Obsessive-compulsive behavior Constriction of peripheral visual field Alopecia of scalp Poor coordination Abnormality of the optic disc Achromatopsia Testicular atrophy Tubulointerstitial fibrosis Elevated C-reactive protein level Arteriosclerosis Urinary retention Pyelonephritis Chills Acute pancreatitis Urethral stenosis Disinhibition Abnormality of female external genitalia Multinodular goiter Bull's eye maculopathy Vertical nystagmus Increased total bilirubin Frontal balding Hematemesis Melena First degree atrioventricular block Abnormal renal physiology Endocardial fibroelastosis Broad foot Oligospermia Ketoacidosis Gingivitis Pendular nystagmus Attenuation of retinal blood vessels Acute hepatic failure Recurrent bronchitis Tubular atrophy Myocarditis Male hypogonadism Abnormal renal morphology Myocardial fibrosis Chronic fatigue Chronic obstructive pulmonary disease Esophageal varix Restrictive cardiomyopathy High-frequency hearing impairment Ovarian cyst Decreased HDL cholesterol concentration Menstrual irregularities Personality changes Central adrenal insufficiency Abnormality of mitochondrial metabolism Leukopenia Palpitations Abnormal lung morphology Subcutaneous nodule Nephrolithiasis Bronchiectasis Osteolysis Ventricular tachycardia Syncope Eosinophilia Hypercalcemia Pleural effusion Epiphora Increased antibody level in blood Elevated erythrocyte sedimentation rate Interstitial pulmonary abnormality Pancytopenia Chest pain Keratoconjunctivitis sicca Renal magnesium wasting Abnormal diaphysis morphology Abnormality of the abdominal wall Flattened epiphysis Thin nail Interstitial pneumonitis Short nail Broad toe Incisional hernia Hemolytic anemia Broad distal phalanges of all fingers Malformation of the hepatic ductal plate Thrombocytopenia Glaucoma Proximal muscle weakness Facial palsy Papule Abnormality of the musculature Hemoptysis Sagittal craniosynostosis Vitritis Chorioretinitis Dacryocystitis Abnormal salivary gland morphology Iridocyclitis Abnormal conjunctiva morphology Vitreous floaters Abnormal reproductive system morphology Abnormality of the lymph nodes Abnormality of skin morphology Posterior vitreous detachment Enlargement of parotid gland Abnormality of T cell physiology Non-caseating epithelioid cell granulomatosis Abnormal liver parenchyma morphology Parotitis Abnormality of the adrenal glands Skin plaque Optic neuropathy Skin nodule Joint swelling Increased CSF protein Abnormality of the gastrointestinal tract Upper airway obstruction Macular edema Immune dysregulation Bone cyst Night sweats Generalized lymphadenopathy Anterior synechiae of the anterior chamber Pneumothorax Abnormality of the pleura Vitreous hemorrhage Chylothorax Cystoid macular edema Erythema nodosum Hepatic cysts Slow-growing hair Increased T cell count Brachydactyly Elevated plasma acylcarnitine levels Acute hepatic steatosis Reye syndrome-like episodes Posterior staphyloma Decreased activity of 3-hydroxyacyl-CoA dehydrogenase 3-hydroxydicarboxylic aciduria Wide nasal bridge Decreased plasma carnitine Frontal bossing Abnormality of the skeletal system Anteverted nares Abnormality of cardiovascular system morphology Hernia Pectus excavatum Clinodactyly of the 5th finger Gastrointestinal inflammation Cholestatic liver disease Telecanthus Metabolic acidosis Babinski sign Dysdiadochokinesis Orofacial dyskinesia Restless legs Abnormal fundus morphology Macrocephaly Abnormality of metabolism/homeostasis Brain atrophy Hypoketotic hypoglycemia Peripheral demyelination Exotropia Sensorimotor neuropathy Abnormal electroretinogram Loss of consciousness Preeclampsia Recurrent hypoglycemia High forehead Joint laxity Abnormal toenail morphology Short thorax Cutis laxa Widely spaced teeth Redundant skin Cupped ear Abnormality of dental morphology Thoracic hypoplasia Prominent occiput Abnormality of dental enamel High hypermetropia Short humerus Fibular hypoplasia Protuberant abdomen Scaphocephaly Taurodontia Anodontia Abnormality of the fingernails Short ribs Craniosynostosis Hypodontia Finger syndactyly Narrow chest Joint hyperflexibility Short distal phalanx of finger High, narrow palate Everted lower lip vermilion Single transverse palmar crease Ectodermal dysplasia Rhizomelia Microdontia Limb undergrowth Hypotelorism Fine hair Abnormality of the metaphysis Omphalocele Hypoplasia of dental enamel Abnormal cardiac ventricular function Abnormality of the nasal mucosa Aortic aneurysm Congenital cataract Anxiety Feeding difficulties in infancy Developmental regression Neurological speech impairment Lethargy Arthrogryposis multiplex congenita Malabsorption Acidosis Anal atresia Paresthesia Ichthyosis Vertigo Lactic acidosis Postural instability Abnormal cerebellum morphology EEG abnormality Gait ataxia Migraine Hypertelorism Temperature instability Hypoplastic labia minora Narrow palm Hypopnea Almond-shaped palpebral fissure Poor gross motor coordination Acromicria Tremor Cerebral cortical atrophy Gait disturbance Diarrhea Hypertonia Areflexia Delayed skeletal maturation Cerebellar hypoplasia Dementia Generalized myoclonic seizures Increased serum lactate Disseminated intravascular coagulation Schizophrenia External ophthalmoplegia Reduced tendon reflexes Ragged-red muscle fibers Ischemic stroke Hypopigmented skin patches Mutism Hyperkinesis Exercise intolerance Easy fatigability Growth abnormality Atrioventricular block Cachexia Decreased nerve conduction velocity Bilateral ptosis Hemiplegia Purpura Type I diabetes mellitus Memory impairment Hemiparesis Cerebral calcification Generalized-onset seizure Bilateral sensorineural hearing impairment Nephrotic syndrome Status epilepticus Ventricular hypertrophy Atrial fibrillation Hypertrichosis EMG abnormality Decreased body weight Gingival overgrowth Hallucinations Cerebral visual impairment Clonus Cardiac arrest Truncal ataxia Triangular mouth Erysipelas Maculopapular exanthema Short palm Osteopenia Thin upper lip vermilion Abnormality of the nervous system Leukemia Genu valgum Arachnodactyly Downturned corners of mouth Micropenis Small hand Short foot Tapered finger Sepsis Esotropia Febrile seizures Narrow forehead Narrow mouth Hyperactivity Decreased fetal movement Cryptorchidism Enlarged lacrimal glands Vitreous snowballs Pulmonary granulomatosis Abnormal trabecular meshwork morphology Neoplasm Micrognathia Abnormal facial shape Depressed nasal bridge Upslanted palpebral fissure Intrauterine growth retardation Talipes equinovarus Intellectual disability, severe Intellectual disability, mild Short nose Syndactyly Prominent forehead Oligohydramnios Cutaneous photosensitivity Frontal upsweep of hair Acrocyanosis Striae distensae Hypopigmentation of hair Iris hypopigmentation Abnormality of lipid metabolism Central hypotonia Overweight Hypoplasia of the fovea Myeloid leukemia Chromosome breakage Ocular albinism Generalized hypopigmentation Cor pulmonale Abdominal obesity Anteverted ears Clitoral hypoplasia Impaired pain sensation Narrow nasal bridge Primary amenorrhea Infantile muscular hypotonia Clumsiness Bradycardia Aortic valve stenosis Spontaneous abortion Narrow palpebral fissure Sleep apnea Scrotal hypoplasia Poor suck External genital hypoplasia Nasal speech Failure to thrive in infancy Emotional lability Large hands Albinism Skeletal muscle hypertrophy Decreased muscle mass Abnormal static automated perimetry test



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Rod-cone dystrophy and Coloboma, related diseases and genetic alterations Downslanted palpebral fissures and Narrow forehead, related diseases and genetic alterations

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