Cardiomyopathy, and Recurrent urinary tract infections

Diseases related with Cardiomyopathy and Recurrent urinary tract infections

In the following list you will find some of the most common rare diseases related to Cardiomyopathy and Recurrent urinary tract infections that can help you solving undiagnosed cases.


Top matches:

Medium match MALONIC ACIDURIA


Malonic aciduria is a metabolic disorder caused by deficiency of malonyl-CoA decarboxylase (MCD).

MALONIC ACIDURIA Is also known as malonyl-coa decarboxylase deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Failure to thrive


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about MALONIC ACIDURIA

Medium match WOLFRAM SYNDROME


Wolfram syndrome (WS) also known as DIDMOAD, is a neurodegenerative disorder characterized by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs. Other related problems are urinary tract atony, ataxia, peripheral neuropathy, psychiatric disorders and/or seizures. 2 types of WS may be distinguished: type 1 and type 2 (WS1 and WS2).

WOLFRAM SYNDROME Is also known as didmoad syndrome|diabetes insipidus-diabetes mellitus-optic atrophy-deafness syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about WOLFRAM SYNDROME

Low match BECKWITH-WIEDEMANN SYNDROME; BWS


Beckwith-Wiedemann syndrome is a pediatric overgrowth disorder involving a predisposition to tumor development. The clinical presentation is highly variable; some cases lack the hallmark features of exomphalos, macroglossia, and gigantism as originally described by Beckwith (1969) and Wiedemann (1969) (summary by Weksberg et al., 2010).Mussa et al. (2016) provided a review of Beckwith-Wiedemann syndrome, including the wide spectrum of phenotypic manifestations, delineation of the frequencies of manifestations according to genotype, and discussion of the molecular and epigenetic defects that underlie the disorder.

BECKWITH-WIEDEMANN SYNDROME; BWS Is also known as emg syndrome|exomphalos-macroglossia-gigantism syndrome|wiedemann-beckwith syndrome|wbs

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about BECKWITH-WIEDEMANN SYNDROME; BWS

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Other less relevant matches:

Low 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

Low match CORNELIA DE LANGE SYNDROME 1; CDLS1


The Cornelia de Lange syndrome (CDLS) is a multisystem malformation syndrome recognized primarily on the basis of characteristic facial dysmorphism, including low anterior hairline, arched eyebrows, synophrys, anteverted nares, maxillary prognathism, long philtrum, thin lips, and 'carp' mouth, in association with prenatal and postnatal growth retardation, mental retardation and, in many cases, upper limb anomalies. However, there is wide clinical variability in this disorder, with milder phenotypes that may be difficult to ascertain on the basis of physical features (summary by Rohatgi et al., 2010).Boyle et al. (2015) provided a detailed review of CDLS, including clinical features, diagnosis, and genetic counseling. Genetic Heterogeneity of Cornelia de Lange SyndromeAbout 50 to 60% of the cases of CDLS are due to mutation in the NIPBL gene (Musio et al., 2006; Rohatgi et al., 2010).One X-linked form of CDLS (CDLS2 ) is caused by mutation in the SMC1A gene (OMIM ), which accounts for about 5% of cases. Two milder variants of Cornelia de Lange syndrome have been identified: CDLS3 (OMIM ), caused by mutation in the SMC3 gene (OMIM ), and CDLS4 (OMIM ), caused by mutation in the RAD21 gene (OMIM ). All 4 genes, NIPBL, SMC1A, SMC3, and RAD21, encode components of the cohesin complex. Another X-linked form, CDLS5 (OMIM ), is caused by mutation in the HDAC8 gene (OMIM ), the vertebrate histone deacetylase of SMC3.

CORNELIA DE LANGE SYNDROME 1; CDLS1 Is also known as typus degenerativus amstelodamensis|brachmann-de lange syndrome|cdl|de lange syndrome|cdls|bdls

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CORNELIA DE LANGE SYNDROME 1; CDLS1

Low 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 WILLIAMS SYNDROME


Williams syndrome is a rare genetic multisystemic neurodevelopmental disorder characterized by a distinct facial appearance, cardiac anomalies (most frequently supravalvular aortic stenosis), cognitive and developmental abnormalities, and connective tissue abnormalities (such as joint laxity)

WILLIAMS SYNDROME Is also known as deletion 7q11.23|williams syndrome|williams-beuren syndrome|chromosome 7q11.23 deletion syndrome, 1.5- to 1.8-mb|wms|monosomy 7q11.23|ws

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about WILLIAMS SYNDROME

Low match COMBINED IMMUNODEFICIENCY DUE TO MOESIN DEFICIENCY


IMD50 is an X-linked recessive primary immunodeficiency characterized by the onset of recurrent bacterial or varicella zoster virus (VZV) infections in early childhood. Laboratory studies show profound lymphopenia, hypogammaglobulinemia, poor immune response to vaccine antigens, and fluctuating neutropenia. The disorder does not affect overall patient survival (summary by Lagresle-Peyrou et al., 2016).

COMBINED IMMUNODEFICIENCY DUE TO MOESIN DEFICIENCY Is also known as cid due to moesin deficiency|msn-related combined immunodeficiency|immunodeficiency 50, x-linked recessive|x-linked moesin-associated immunodeficiency

Related symptoms:

  • Immunodeficiency
  • Recurrent respiratory infections
  • Neutropenia
  • Decreased antibody level in blood
  • Eczema


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO MOESIN DEFICIENCY

Low match AUTOSOMAL RECESSIVE SEVERE CONGENITAL NEUTROPENIA DUE TO CSF3R DEFICIENCY


Autosomal recessive severe congenital neutropenia due to CSF3R deficiency is a rare, genetic, primary immunodeficiency disorder characterized by predisposition to recurrent, life-threatening bacterial infections associated with decreased peripheral neutrophil granulocytes (absolute neutrophil count less than 500 cells/microliter), resulting from recessively inherited loss-of-function mutations in the CSF3R gene. Full maturation of all three lineages in the bone marrow and refractoriness to in vivo rhG-CSF treatment are associated.

Related symptoms:

  • Immunodeficiency
  • Recurrent infections
  • Pneumonia
  • Dyskinesia
  • Neutropenia


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SEVERE CONGENITAL NEUTROPENIA DUE TO CSF3R DEFICIENCY

Low match POLYCYSTIC KIDNEY DISEASE 2 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE; PKD2


Type 2 ADPKD is linked to gene mutation at the PKD2 locus on the long arm of CHROMOSOME 4.

POLYCYSTIC KIDNEY DISEASE 2 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE; PKD2 Is also known as polycystic kidney disease, adult, type ii|apkd2

Related symptoms:

  • Hypertension
  • Renal insufficiency
  • Midface retrusion
  • Respiratory failure
  • Abnormality of the kidney


SOURCES: OMIM MENDELIAN

More info about POLYCYSTIC KIDNEY DISEASE 2 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE; PKD2

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Recurrent urinary tract infections

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

Patients with Cardiomyopathy and Recurrent urinary tract infections. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Abnormality of the kidney Hearing impairment Hypertension Cleft palate Sensorineural hearing impairment Behavioral abnormality Diabetes mellitus Sleep disturbance Abnormal facial shape Respiratory distress Cryptorchidism Intrauterine growth retardation Atrial septal defect Abnormal heart morphology Hypothyroidism Vesicoureteral reflux Renal insufficiency Strabismus Growth delay Nystagmus Scoliosis Ataxia Generalized hypotonia Hypertrophic cardiomyopathy Constipation Pain Feeding difficulties Midface retrusion Autistic behavior Hernia Small for gestational age Pulmonic stenosis Abdominal pain Respiratory failure Hypoglycemia Hepatomegaly Postnatal growth retardation Microcephaly Proteinuria Proptosis Neoplasm Gastroesophageal reflux Umbilical hernia Conductive hearing impairment Autism Pneumonia Vomiting Neutropenia Renal cyst Abnormality of the dentition Cardiomegaly Delayed speech and language development Nephrocalcinosis Glucose intolerance Irritability Macrocephaly Hypertelorism Congestive heart failure Anemia Micrognathia Optic atrophy Respiratory insufficiency Cataract Ptosis Hypogonadism Visual impairment Glaucoma Pes planus Nephropathy Recurrent respiratory infections Abnormal renal morphology Otitis media Abnormality of the urinary system Increased body weight Clinodactyly of the 5th finger Patent ductus arteriosus

Rare Symptoms - Less than 30% cases


Severe short stature Choanal atresia Insulin resistance Hypergonadotropic hypogonadism Hyperinsulinemia Reduced bone mineral density Tetralogy of Fallot Abnormality of the liver Cholelithiasis Myelodysplasia Tracheoesophageal fistula Weight loss Oligohydramnios Thrombocytopenia Renal agenesis Fever Hip dislocation Hydrocephalus Toe syndactyly Abnormality of the skeletal system Fatigue Facial asymmetry Hyperreflexia Headache Hypospadias Epicanthus Astigmatism Abnormal cardiac septum morphology Ectopic kidney Vertigo High palate Inguinal hernia Hydroureter Kyphosis Aspiration Widely spaced teeth Incoordination Renovascular hypertension Hypoplastic male external genitalia Urethral stenosis Involuntary movements Recurrent otitis media Cognitive impairment Obesity Microdontia Depressivity Kyphoscoliosis Type II diabetes mellitus Scarring Poor coordination Carious teeth Elevated serum creatinine Right ventricular hypertrophy Tubulointerstitial nephritis Renal hypoplasia Hypogonadotrophic hypogonadism Precocious puberty Long philtrum Abnormality of nervous system morphology Aplasia/Hypoplasia of the iris Abnormal carotid artery morphology Depressed nasal bridge Wide nasal bridge Myopia Ventricular septal defect Short neck Hypertonia Clinodactyly Polyuria Stage 5 chronic kidney disease Delayed skeletal maturation Hyperhidrosis Nephritis Respiratory tract infection Craniosynostosis Hirsutism Polycystic ovaries Chronic otitis media Obsessive-compulsive behavior Pallor Portal hypertension Short nose Nevus flammeus Intellectual disability, moderate Wide mouth Dextrocardia Hypercalciuria Pulmonary hypoplasia Poor appetite Postural instability Diabetes insipidus Abdominal distention Developmental regression Male hypogonadism Accelerated skeletal maturation Macroglossia Polydipsia Ketosis Cerebral cortical atrophy Nephrolithiasis Chronic constipation Peripheral neuropathy Dysarthria Myopathy Immunodeficiency Attention deficit hyperactivity disorder Intellectual disability, mild Polydactyly Feeding difficulties in infancy Coarse facial features Polycystic kidney dysplasia Joint stiffness Muscular hypotonia Delayed puberty Gastrointestinal hemorrhage Ophthalmoplegia Renal cortical cysts Malabsorption Carcinoma Myoclonus Hyperactivity Abnormal muscle tone Abnormality of the urethra Albuminuria Decreased antibody level in blood Eczema Female hypogonadism Squared iliac bones Urethral obstruction Abnormality of the pituitary gland Hematemesis First degree atrioventricular block Impaired temperature sensation Urethral stricture Melena Abnormal chorioretinal morphology Abnormality of the optic disc Decreased glomerular filtration rate Abnormal spermatogenesis Epigastric pain Abnormality of dental color Chronic infection Chronic hepatic failure Lumbar scoliosis Hepatic necrosis Hyperostosis frontalis interna Facial hirsutism Vocal cord dysfunction Abnormality of prothrombin Abnormality of renal calyx morphology Atrophy/Degeneration involving the corticospinal tracts Localized hirsutism Vitreous haze Abnormality of the femoral head Descending aorta hypoplasia Precocious puberty in females Spasticity Flexion contracture Tremor Gait disturbance Malar flattening Absent speech Pectus excavatum EEG with occipital slowing Abnormal retinal artery morphology ST segment depression Chronic active hepatitis Multifocal atrial tachycardia Childhood-onset truncal obesity High-frequency sensorineural hearing impairment Increased circulating androgen level Exudative retinopathy Nonproductive cough Abnormal adipose tissue morphology Increased total bilirubin Widely-spaced incisors Receptive language delay Granular macular appearance Thickened ears Dilatation of the bladder Unilateral breast hypoplasia Glue ear Recurrent cystitis Frontal balding Chills Vertical nystagmus Increased number of teeth Agenesis of permanent teeth Progressive sensorineural hearing impairment Glomerulopathy Glycosuria Bronchitis Hyperuricemia Dyskinesia Subcapsular cataract Polyphagia Pericarditis Thoracic scoliosis Autoimmune thrombocytopenia Severe sensorineural hearing impairment Hypoventilation Insulin-resistant diabetes mellitus Retinal atrophy Peripheral visual field loss Short finger Chorioretinal atrophy Hyperventilation Acne Hepatic cysts Multicystic kidney dysplasia Situs inversus totalis Hematuria Aplasia/Hypoplasia of the cerebellum Constriction of peripheral visual field Impaired vibratory sensation Hyperostosis Pericardial effusion Hyperglycemia Congenital neutropenia Emphysema Ciliary dyskinesia Pulmonary fibrosis Urinary urgency Truncal obesity Abnormal retinal morphology Alopecia of scalp Oligomenorrhea Bull's eye maculopathy Arteriosclerosis Retinal pigment epithelial atrophy Disinhibition Abnormal renal physiology Abnormal left ventricle morphology Testicular atrophy Tubulointerstitial fibrosis Elevated C-reactive protein level Urinary retention Menstrual irregularities Poor fine motor coordination Pyelonephritis Cerebellar hypoplasia Acute pancreatitis Achromatopsia Hepatic encephalopathy Abnormality of female external genitalia Multinodular goiter Endocardial fibroelastosis Decreased HDL cholesterol concentration Posterior subcapsular cataract Tubular atrophy Broad foot Ketoacidosis Gingivitis Pendular nystagmus Attenuation of retinal blood vessels Recurrent infections Acute hepatic failure Recurrent bronchitis Myocarditis Ovarian cyst Oligospermia Myocardial fibrosis Chronic fatigue Chronic obstructive pulmonary disease Esophageal varix Lymphopenia Restrictive cardiomyopathy High-frequency hearing impairment Elevated serum creatine phosphokinase Gait imbalance Osteoporosis Arnold-Chiari type I malformation Restlessness Insomnia Megalocornea Abnormality of the gastric mucosa Abnormality of lipid metabolism Posterior embryotoxon Infantile hypercalcemia Food intolerance Prematurely aged appearance Pelvic kidney Soft skin Pulmonary artery stenosis Hyperacusis Abnormality of the vasculature Patellar dislocation Retinal arteriolar tortuosity Coronary artery stenosis Facial cleft Abnormal social behavior Renal artery stenosis Unilateral renal agenesis Failure to thrive in infancy Unilateral renal hypoplasia Radioulnar synostosis Calcification of the aorta Impaired visuospatial constructive cognition Abnormality of the voice Supravalvular aortic stenosis Abnormality of dental morphology High hypermetropia Hypoplastic toenails Loss of consciousness Open bite Hallux valgus Premature graying of hair Vertebral segmentation defect Flat cornea Celiac disease Multiple renal cysts Down-sloping shoulders Myxomatous mitral valve degeneration Periorbital edema Parathyroid hyperplasia Villous atrophy Dyslexia Phonophobia Dysgraphia Arterial stenosis Rectal prolapse Peptic ulcer Increased nuchal translucency Cystic renal dysplasia Bladder diverticulum Lacrimation abnormality Subvalvular aortic stenosis Peripheral pulmonary artery stenosis Decreased plasma carnitine Periorbital fullness Cerebral ischemia Abnormal glucose tolerance Enuresis Abnormality of the bladder Large earlobe Vocal cord paralysis Blue irides Synostosis of joints Hypoplasia of the zygomatic bone Nocturia Obsessive-compulsive trait Aortic arch aneurysm Overriding aorta Tubulointerstitial abnormality Retinal vascular tortuosity Abnormality of the ankles Abnormality of the neck Vascular tortuosity Colonic diverticula Renal duplication Abnormal endocardium morphology Thyroid hypoplasia Abnormality of the cerebral vasculature Hypercalcemia Redundant skin Micropenis Elfin facies Overfriendliness Genu valgum Joint hyperflexibility Smooth philtrum Nystagmus-induced head nodding Thyroid hemiagenesis Bilateral vocal cord paralysis Dysmetria Early onset of sexual maturation Oral cleft Thick vermilion border Everted lower lip vermilion Hypodontia Broad nasal tip Full cheeks Sudden cardiac death Chest pain Nausea and vomiting Neurological speech impairment Dental malocclusion Cleft lip Functional abnormality of male internal genitalia High forehead Macrotia Osteopenia Arthralgia Anxiety Joint laxity Abnormality of refraction Low-set, posteriorly rotated ears Dyssynergia Hyperlordosis Protruding ear Stellate iris Paralysis Blepharophimosis Stroke Broad forehead Corneal opacity Medial flaring of the eyebrow Esotropia Dysphonia Abnormal dermatoglyphics Increased bone mineral density Pointed chin Hemivertebrae Abnormality of dental enamel Abnormality of the fingernails Spina bifida occulta Cutis laxa Progressive hearing impairment Hoarse voice Bicuspid aortic valve Paroxysmal bursts of laughter Ischemic stroke Infantile muscular hypotonia Schizophrenia Arnold-Chiari malformation Adducted thumb Abnormality of pelvic girdle bone morphology Narrow face Aortic valve stenosis Dehydration Ventricular hypertrophy Abnormality of the cardiovascular system Narrow forehead Hypotelorism Mitral valve prolapse Hypoplasia of penis Abnormality of extrapyramidal motor function Coarctation of aorta Hypsarrhythmia Small nail Gingival overgrowth Thick lower lip vermilion Myocardial infarction Hemiparesis Open mouth Mitral regurgitation Abnormality of the diencephalon Abnormal form of the vertebral bodies Amblyopia Sacral dimple Hypoplastic radial head Lipodystrophy Squamous cell carcinoma Azoospermia Cranial nerve paralysis Renal hypoplasia/aplasia Hypopigmented skin patches Abnormality of vision Triphalangeal thumb Hypoplasia of the ulna Absent thumb Type I diabetes mellitus Myeloid leukemia Multiple cafe-au-lait spots Acute myeloid leukemia Abnormality of blood and blood-forming tissues Absent radius Aplasia/Hypoplasia of the radius Irregular hyperpigmentation Leukopenia Horseshoe kidney Hearing abnormality Sloping forehead Dolichocephaly Abnormality of the foot Anal atresia Abnormality of skin pigmentation Bruising susceptibility Hypopigmentation of the skin Lymphoma Pancytopenia Bone marrow hypocellularity Short palpebral fissure Abnormality of the genital system Aganglionic megacolon Telangiectasia Cafe-au-lait spot Short thumb Abnormal vertebral morphology Spina bifida External ear malformation Chromosome breakage Leukemia Absent testis Low-grade fever Complete duplication of thumb phalanx Partial duplication of thumb phalanx Clubbing of toes Decreased fertility in males Chromosomal breakage induced by crosslinking agents Hypoplastic anemia Compensated hypothyroidism Duplicated collecting system Almond-shaped palpebral fissure Prolonged G2 phase of cell cycle 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 Meckel diverticulum Duodenal stenosis Abnormal eyelid morphology Abnormality of the thumb Abnormality of the ulna Arteriovenous malformation B-cell lymphoma Abnormality of the upper limb Aplastic anemia Abnormality of the uterus Abnormality of the testis Bicornuate uterus Primary hypothyroidism Abnormality of femur morphology Acute monocytic leukemia Abnormality of the hypothalamus-pituitary axis Abnormal aortic valve morphology Abnormal localization of kidney Abnormality of chromosome stability Reticulocytopenia Abnormal aortic morphology Finger syndactyly Abnormality of the eye Low-set ears Prominent supraorbital ridges Nevus Dandy-Walker malformation Overgrowth Omphalocele Large fontanelles Abnormality of the outer ear Growth abnormality Nephroblastoma Joint hypermobility Large hands Large for gestational age Prominent occiput Abnormality of the ear Tibial bowing Broad palm Hamartoma Neuroblastoma Postaxial polydactyly Hydronephrosis Prominent metopic ridge Hyperammonemia Diarrhea Acidosis Lactic acidosis Metabolic acidosis Febrile seizures Pachygyria Heterotopia Episodic vomiting Polyhydramnios Dementia Hallucinations Abnormal autonomic nervous system physiology Dysuria Central apnea Gastric ulcer Abnormality of mesentery morphology Edema Congenital hypothyroidism Aniridia Upslanted palpebral fissure Adrenocortical cytomegaly Ganglioneuroma Posterior helix pit Opsoclonus Abdominal mass Thymus hyperplasia Nephroblastomatosis Vitreomacular adhesion Overgrowth of external genitalia Flank pain Pancreatic hyperplasia Fibrous hamartoma Pancreatoblastoma Congenital mesoblastic nephroma Frontal bossing Ventriculomegaly Microphthalmia Abnormality of cardiovascular system morphology Adrenocortical carcinoma Prune belly Protuberant abdomen Hypoplasia of the thymus Foot polydactyly Enlarged kidney Neonatal hypoglycemia Diastasis recti Nonimmune hydrops fetalis Hemihypertrophy Gonadoblastoma Visceromegaly Embryonal neoplasm Pancreatic cysts Abnormality of the tongue Rhabdomyosarcoma Unilateral cryptorchidism Diaphragmatic eventration Teratoma Abdominal wall defect Hepatoblastoma Abnormality of the preputium Talipes equinovarus Elevated alkaline phosphatase Hypotrichosis Myalgia Sparse hair Retinopathy Nyctalopia Cough Dilated cardiomyopathy Generalized tonic-clonic seizures Hypermetropia Deeply set eye Infertility Dry skin Retinal degeneration Lymphadenopathy Nausea Cirrhosis Tachycardia Hepatic failure Elevated hepatic transaminase Photophobia Hepatic steatosis Splenomegaly Otitis media with effusion Reduced renal corticomedullary differentiation Abnormality of the umbilicus Dysplastic tricuspid valve Motor delay Blindness Dystonia Dilatation Jaundice Encephalopathy Visual loss Hyporeflexia Alopecia Rod-cone dystrophy Hyperkeratosis Dyspnea Hepatosplenomegaly Retinal dystrophy Ascites Duplication of internal organs Macular degeneration Sinusitis Gynecomastia Short toe Recurrent pneumonia Horizontal nystagmus Generalized hirsutism Absence seizures Acanthosis nigricans Hepatic fibrosis Atherosclerosis Hyperlipidemia Pancreatitis Hypercholesterolemia Tachypnea Cone/cone-rod dystrophy Goiter Abnormality of the hand Hyperpigmentation of the skin Decreased liver function Asthma Pigmentary retinopathy Urinary incontinence Round face Growth hormone deficiency Decreased testicular size Progressive visual loss Specific learning disability Cyanosis Hepatitis Abnormality of retinal pigmentation Optic disc pallor Epidermal acanthosis Pulmonary arterial hypertension Hypertriglyceridemia Left ventricular hypertrophy Thickened skin Chronic diarrhea Anorexia Malrotation of colon Projectile vomiting Anteverted nares Webbed neck Highly arched eyebrow Single transverse palmar crease Tapered finger Delayed eruption of teeth Microcornea Triangular face Sepsis Congenital diaphragmatic hernia High, narrow palate High myopia Blue sclerae Low posterior hairline Hypertrichosis Long eyelashes Low anterior hairline Elbow flexion contracture Spontaneous abortion Small hand Downturned corners of mouth Relative macrocephaly Thin upper lip vermilion Intellectual disability, severe Syndactyly Prominent forehead Brachycephaly Narrow mouth Mandibular prognathia Retrognathia Aggressive behavior Thick eyebrow Telecanthus Camptodactyly Abnormality of the pinna Prominent nasal bridge Synophrys Micromelia Cleft upper lip Thin vermilion border Torticollis Hypoplasia of the radius Left-to-right shunt Short sternum Abnormality of the gastrointestinal tract Optic nerve coloboma Thick upper lip vermilion Recurrent hypoglycemia Volvulus Panhypopituitarism Peters anomaly Perimembranous ventricular septal defect Esophagitis Hand oligodactyly Phocomelia Supernumerary ribs Gastroparesis Absent hand Curly eyelashes Esophageal stenosis Hypertropia Hypoplastic labia majora Aspiration pneumonia Deep philtrum Short middle phalanx of finger Short metatarsal Pyloric stenosis Self-injurious behavior Proximal placement of thumb Clubbing Tricuspid regurgitation Cutis marmorata 2-3 toe syndactyly Hiatus hernia Opisthotonus Limited elbow extension Abnormality of digit Weak cry Dislocated radial head Hypoplastic nipples Oligodactyly Ectrodactyly Multiple glomerular cysts



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Arthritis and Frontal bossing, related diseases and genetic alterations Hydrocephalus and Increased serum lactate, related diseases and genetic alterations Hydrocephalus and Underdeveloped nasal alae, related diseases and genetic alterations Low-set ears and Bifid uvula, related diseases and genetic alterations Muscle weakness and Holoprosencephaly, related diseases and genetic alterations Ataxia and Renal cyst, related diseases and genetic alterations

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