Ataxia, and Vesicoureteral reflux

Diseases related with Ataxia and Vesicoureteral reflux

In the following list you will find some of the most common rare diseases related to Ataxia and Vesicoureteral reflux that can help you solving undiagnosed cases.


Top matches:

Medium match HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS


Hypotonia, ataxia, and delayed development syndrome (HADDS) is a neurodevelopmental syndrome characterized by congenital hypotonia, delayed psychomotor development, variable intellectual disability with speech delay, variable dysmorphic facial features, and ataxia, often associated with cerebellar hypoplasia. Some patients may have urogenital abnormalities (summary by Sleven et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS

Medium match KNOBLOCH SYNDROME


Knobloch syndrome (KS) is defined by vitreoretinal and macular degeneration, and occipital encephalocele.

KNOBLOCH SYNDROME Is also known as retinal detachment and occipital encephalocele|knobloch-layer syndrome|retinal detachment-occipital encephalocele syndrome|kno

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about KNOBLOCH SYNDROME

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

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Other less relevant matches:

Medium match ISOLATED SUCCINATE-COQ REDUCTASE DEFICIENCY


Mitochondrial complex II deficiency is an autosomal recessive disorder with a highly variable phenotype. Some patients have multisystem involvement of the brain, heart, muscle, liver, and kidneys resulting in death in infancy, whereas others have only isolated cardiac or muscle involvement with onset in adulthood and normal cognition. Measurement of complex II activity in muscle is the most reliable means of diagnosis; however, there is no clear correlation between residual complex II activity and severity or clinical outcome. In some cases, treatment with riboflavin may have clinical benefit (summary by Jain-Ghai et al., 2013).

ISOLATED SUCCINATE-COQ REDUCTASE DEFICIENCY Is also known as isolated succinate-ubiquinone reductase deficiency|isolated succinate-coenzyme q reductase deficiency|isolated mitochondrial respiratory chain complex ii deficiency|succinate coq reductase deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ISOLATED SUCCINATE-COQ REDUCTASE DEFICIENCY

Medium match VELOCARDIOFACIAL SYNDROME


VELOCARDIOFACIAL SYNDROME Is also known as chromosome 22q11.2 deletion syndrome|shprintzen vcf syndrome|vcf syndrome|vcfs

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about VELOCARDIOFACIAL SYNDROME

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

Medium match CARDIOFACIOCUTANEOUS SYNDROME


Cardiofaciocutaneous (CFC) syndrome is a RASopathy characterized by craniofacial dysmorphology, congenital heart disease, dermatological abnormalities (most commonly hyperkeratotic skin and sparse, curly hair), growth retardation and intellectual disability.

CARDIOFACIOCUTANEOUS SYNDROME Is also known as cfcs|cfc syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CARDIOFACIOCUTANEOUS SYNDROME

Medium match SOTOS SYNDROME 1; SOTOS1


SOTOS SYNDROME 1; SOTOS1 Is also known as chromosome 5q35 deletion syndrome|sotos syndrome|cerebral gigantism

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SOTOS SYNDROME 1; SOTOS1

Medium 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

Medium 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

Top 5 symptoms//phenotypes associated to Ataxia and Vesicoureteral reflux

Symptoms // Phenotype % cases
Seizures Very Common - Between 80% and 100% cases
Global developmental delay Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Ataxia and Vesicoureteral reflux. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Behavioral abnormality

Uncommon Symptoms - Between 30% and 50% cases


Strabismus

Common Symptoms - More than 50% cases


Hearing impairment

Uncommon Symptoms - Between 30% and 50% cases


Delayed speech and language development

Common Symptoms - More than 50% cases


Nystagmus

Uncommon Symptoms - Between 30% and 50% cases


Scoliosis

Common Symptoms - More than 50% cases


Optic atrophy

Uncommon Symptoms - Between 30% and 50% cases


Cataract

Common Symptoms - More than 50% cases


Growth delay

Uncommon Symptoms - Between 30% and 50% cases


Abnormal facial shape Cardiomyopathy Cryptorchidism Respiratory tract infection Blindness Patent ductus arteriosus Aggressive behavior Failure to thrive Depressivity Microcephaly Pulmonic stenosis Ventricular septal defect Cognitive impairment Gastroesophageal reflux Abnormal heart morphology Ptosis Atrial septal defect Hydrocephalus Hernia Epicanthus Visual impairment Depressed nasal bridge Myopia Dysphagia Sensorineural hearing impairment Sleep disturbance Hypertelorism Otitis media Hypothyroidism Macrocephaly Constipation Thrombocytopenia Autism Abnormality of the kidney Inguinal hernia Prominent forehead Obsessive-compulsive behavior Abnormality of the dentition Conductive hearing impairment Hypertrophic cardiomyopathy High palate Short neck Dysarthria Congestive heart failure Hypertonia Vomiting Feeding difficulties Renal agenesis Dementia Low posterior hairline Myoclonus Hyperhidrosis Umbilical hernia Muscular hypotonia Cleft palate Respiratory failure Precocious puberty Intellectual disability, severe Pain Chronic otitis media Diabetes mellitus Recurrent urinary tract infections Open mouth Scarring Pes planus Abnormal glucose tolerance Proteinuria Irritability Absent speech Autistic behavior Kyphosis Hypertension Increased body weight Hypermetropia Hydroureter Cardiomegaly Pigmentary retinopathy Hyperreflexia Cholelithiasis Anxiety Poor coordination Downslanted palpebral fissures Obesity Neoplasm High, narrow palate Genu valgum Narrow face Clinodactyly of the 5th finger Alopecia Glaucoma Micrognathia Astigmatism Progressive visual loss Bulbous nose Coarse facial features Retrognathia Redundant skin Long philtrum Delayed skeletal maturation Dysmetria Deep philtrum Cerebral atrophy Neonatal hypotonia Anteverted nares Cerebellar atrophy Macrotia Cutis laxa Posteriorly rotated ears High forehead Low-set ears Leukemia Motor delay Ventriculomegaly Neurological speech impairment

Rare Symptoms - Less than 30% cases


Telecanthus Thick vermilion border Recurrent respiratory infections Feeding difficulties in infancy Splenomegaly Dolichocephaly Pneumonia Clinodactyly Failure to thrive in infancy Low-set, posteriorly rotated ears Joint hypermobility Abdominal pain Abnormal cardiac septum morphology Hyperkeratosis Encephalopathy Renal insufficiency Posterior embryotoxon Respiratory distress Bicuspid aortic valve Hypospadias Aspiration Lymphedema Hemiparesis Myocardial infarction Hyperactivity Coarctation of aorta Abnormality of the pinna Blepharophimosis Narrow forehead Specific learning disability Tetralogy of Fallot Abnormality of the cardiovascular system Arnold-Chiari malformation Hepatomegaly Schizophrenia Abnormality of the hand Webbed neck Dental malocclusion Unilateral renal agenesis Acne Submucous cleft hard palate Autoimmune thrombocytopenia Anal stenosis Perimembranous ventricular septal defect Retinal vascular tortuosity Relative macrocephaly Full cheeks Kyphoscoliosis Increased nuchal translucency Jaundice Intrauterine growth retardation Craniosynostosis Polycystic ovaries Hypoplasia of the zygomatic bone Abnormality of the gastrointestinal tract Thick upper lip vermilion Hypoplastic male external genitalia Renovascular hypertension Abnormality of refraction Portal hypertension Nephritis Subvalvular aortic stenosis Glucose intolerance Polyuria Wide nasal bridge Small for gestational age Agenesis of permanent teeth Alopecia of scalp Abnormality of the optic disc Abnormal dermatoglyphics Tubulointerstitial nephritis Pointed chin Right ventricular hypertrophy Small nail Hypodontia Joint laxity Mandibular prognathia Frontal balding Abnormal renal morphology Arnold-Chiari type I malformation Poor appetite Incoordination Abdominal distention Osteopenia Proptosis Postnatal growth retardation Pallor Urethral stenosis Hypotrichosis Carious teeth Dry skin Widely spaced teeth Hirsutism Retinal dystrophy Cerebral cortical atrophy Hepatic steatosis Growth hormone deficiency Accelerated skeletal maturation Renal hypoplasia Type II diabetes mellitus Recurrent otitis media Involuntary movements Thickened skin Pectus excavatum Microdontia Hyperpigmentation of the skin Malar flattening Hypogonadotrophic hypogonadism Short nose Frontal bossing Nephrocalcinosis Open bite Sparse hair Narrow palate Abnormality of cardiovascular system morphology Joint hyperflexibility Myopathic facies Weight loss Severe sensorineural hearing impairment Developmental regression Retinopathy Dilated cardiomyopathy Hydronephrosis Ophthalmoplegia Midface retrusion Visual loss Mental deterioration Nyctalopia Congenital cataract Mitral regurgitation Retinal degeneration Diarrhea High myopia Acute lymphoblastic leukemia Polyphagia Pyloric stenosis Diabetes insipidus Abnormal bleeding Dehydration Abnormality of the urinary system Psychosis Hypergonadotropic hypogonadism Macular degeneration Meningocele Horizontal nystagmus Leukoencephalopathy Dilatation Hypogonadism Dystonia Broad nasal tip Cerebellar hypoplasia Micropenis Fever Anemia Thin upper lip vermilion Testicular atrophy Deeply set eye Chorioretinal atrophy Prominent nasal bridge Synophrys Downturned corners of mouth Triangular face Long face Peripheral neuropathy Tremor Myopathy Abnormality of the genitourinary system Fatigue Flexion contracture Sleep apnea Spasticity Apraxia Inappropriate crying Optic nerve dysplasia Abnormal location of ears Functional abnormality of the gastrointestinal tract Oligodactyly Hyperkeratosis pilaris Puberty and gonadal disorders Patchy alopecia Carcinoma Oral aversion Multiple plantar creases Abnormality of the auditory canal Abnormality of the hairline Ectrodactyly Laryngeal cleft Eyelid fasciculation Tongue thrusting Hypoplasia of the frontal lobes Generalized ichthyosis Cutaneous T-cell lymphoma Multiple palmar creases Morphological abnormality of the gastrointestinal tract Ectopic kidney Hypoplastic nipples Hyperplasia of the maxilla Long foot Advanced eruption of teeth Cavum septum pellucidum Oxycephaly Periventricular leukomalacia Overbite Hamartomatous polyposis Teratoma Expressive language delay High anterior hairline Sacrococcygeal teratoma Cutis marmorata Gray matter heterotopias Small cell lung carcinoma Abnormality of the cerebral ventricles Tricuspid regurgitation Clubbing Gait disturbance Enlarged cisterna magna Short middle phalanx of finger Dislocated radial head Abnormality of digit Overgrowth Sloping forehead Weak cry Clumsiness Heterotopia Hypoplasia of dental enamel Tall stature Abnormal vertebral morphology Limited elbow extension Neuroblastoma Opisthotonus Anterior creases of earlobe Reduced number of teeth Nephroblastoma Large hands Partial agenesis of the corpus callosum Prolonged neonatal jaundice 2-3 toe syndactyly Abnormal tricuspid valve morphology Slow-growing hair Endocarditis Gastroparesis Melanocytic nevus Left-to-right shunt Cubitus valgus Hypertropia Esophageal stenosis Heart murmur Curly eyelashes Absent hand Absent eyebrow Pleural effusion Supernumerary ribs Large for gestational age Phocomelia Hand oligodactyly Short sternum Peters anomaly Malnutrition Aplasia/Hypoplasia of the eyebrow Ectropion Scaling skin Neurofibromas Abnormality of the umbilicus Abnormal palate morphology Aplasia/Hypoplasia of the corpus callosum Hemangioma Delayed gross motor development Hypoplastic radial head Optic nerve hypoplasia Palmoplantar hyperkeratosis Abnormality of vision Poor suck Projectile vomiting Reduced renal corticomedullary differentiation Hyperextensible skin Otitis media with effusion Malrotation of colon Brittle hair Bilateral ptosis Duplication of internal organs Sparse eyebrow Neurodevelopmental delay Infantile spasms Hiatus hernia Esophagitis Optic nerve coloboma Abnormal myocardium morphology Hypoplastic labia majora Deep palmar crease Gastrointestinal dysmotility Abnormal mitral valve morphology Proximal placement of thumb Thickened helices Abnormal aortic valve morphology Abnormality of the testis Hyperextensibility of the finger joints Abnormality of the pulmonary artery Excessive wrinkled skin Abnormality of hair texture Cavernous hemangioma Multiple lentigines Sparse or absent eyelashes Aspiration pneumonia Delayed CNS myelination Abnormality of the optic nerve Abnormality of the sternum Atopic dermatitis Long palpebral fissure Abnormal heart valve morphology Multiple cafe-au-lait spots Biparietal narrowing Curly hair Generalized hyperpigmentation Underdeveloped supraorbital ridges Panhypopituitarism Abnormal eyelash morphology Dystrophic fingernails Volvulus Enlarged kidney Absent eyelashes Premature skin wrinkling Abnormality of the ulna Short attention span Woolly hair Recurrent hypoglycemia Abnormal hair pattern Intellectual disability, mild Wide mouth Self-injurious behavior Peripheral pulmonary artery stenosis Abnormality of the cerebral vasculature Enuresis Villous atrophy Dyslexia Cerebral ischemia Gait imbalance Periorbital fullness Decreased plasma carnitine Lacrimation abnormality Large earlobe Bladder diverticulum Cystic renal dysplasia Abnormality of the skeletal system Atrophy/Degeneration involving the corticospinal tracts Vocal cord dysfunction Peptic ulcer Periorbital edema Rectal prolapse Arterial stenosis Abnormality of the neck Chronic constipation Abnormality of nervous system morphology Abnormality of lipid metabolism Vertebral segmentation defect Celiac disease High hypermetropia Prematurely aged appearance Facial cleft Restlessness Insomnia Megalocornea Nevus flammeus Blue irides Soft skin Syndactyly Pulmonary artery stenosis Abnormality of the vasculature Patellar dislocation Multiple renal cysts Oculomotor apraxia Vocal cord paralysis Talipes equinovarus Dysgraphia Descending aorta hypoplasia Hallux valgus Pelvic kidney Synostosis of joints Abnormality of the bladder Abnormality of the diencephalon Abnormal carotid artery morphology Renal artery stenosis Coronary artery stenosis Retinal arteriolar tortuosity Hyperacusis Paroxysmal bursts of laughter Elfin facies Food intolerance Myxomatous mitral valve degeneration Unilateral renal hypoplasia Infantile hypercalcemia Calcification of the aorta Impaired visuospatial constructive cognition Supravalvular aortic stenosis Flat cornea Abnormal social behavior Medial flaring of the eyebrow Nocturia Functional abnormality of male internal genitalia Overfriendliness Stellate iris Phonophobia Parathyroid hyperplasia Thyroid hypoplasia Abnormal endocardium morphology Dyssynergia Aplasia/Hypoplasia of the iris Early onset of sexual maturation Nystagmus-induced head nodding Bilateral vocal cord paralysis Thyroid hemiagenesis Renal duplication Colonic diverticula Vascular tortuosity Abnormality of the ankles Tubulointerstitial abnormality Overriding aorta Aortic arch aneurysm Obsessive-compulsive trait Premature graying of hair Loss of consciousness Elevated serum creatine phosphokinase Hypoplasia of penis Macroglossia Sudden cardiac death Chest pain Esotropia Elbow flexion contracture Hypotelorism Mitral valve prolapse Low anterior hairline Long eyelashes Everted lower lip vermilion Abnormality of extrapyramidal motor function Hypsarrhythmia Ventricular hypertrophy Choanal atresia Thick lower lip vermilion Abnormal form of the vertebral bodies Nephrolithiasis Amblyopia Gingival overgrowth Postural instability Oral cleft Hoarse voice Protruding ear Osteoporosis Arthralgia Cleft lip Intellectual disability, moderate Short metatarsal Hypoplasia of the radius Hyperlordosis Torticollis Paralysis Spontaneous abortion Joint stiffness Abnormality of the gastric mucosa Attention deficit hyperactivity disorder Stroke Broad forehead Corneal opacity Nausea and vomiting Malabsorption Smooth philtrum Aortic valve stenosis Hypertrichosis Headache Toe syndactyly Thin vermilion border Dysphonia Hypercalciuria Cleft upper lip Hypercalcemia Vertigo Micromelia Radioulnar synostosis Hip dislocation Pulmonary hypoplasia Abnormality of the voice Abnormality of dental morphology Hypoplastic toenails Camptodactyly Hypoglycemia Narrow mouth Brachycephaly Tracheoesophageal fistula Severe short stature Thick eyebrow Small hand Increased bone mineral density Ischemic stroke Hemivertebrae Blue sclerae Abnormality of dental enamel Abnormality of the fingernails Spina bifida occulta Progressive hearing impairment Congenital diaphragmatic hernia Sacral dimple Infantile muscular hypotonia Highly arched eyebrow Sepsis Renal cyst Microcornea Reduced bone mineral density Adducted thumb Delayed eruption of teeth Tapered finger Abnormality of pelvic girdle bone morphology Single transverse palmar crease Down-sloping shoulders High-frequency hearing impairment Sparse eyelashes Psoriasiform dermatitis Hypocalcemia Multicystic kidney dysplasia Narrow palpebral fissure Purpura Holoprosencephaly Nasal speech Dysdiadochokinesis Rheumatoid arthritis Apathy Hallucinations Hypoplasia of the brainstem Inflammation of the large intestine Abnormality of the ear Basal ganglia calcification Autoimmune hemolytic anemia Axonal loss Bipolar affective disorder Vitiligo Hypoparathyroidism Spina bifida Renal dysplasia Delusions Immunodeficiency Hemolytic-uremic syndrome Increased intramyocellular lipid droplets Progressive leukoencephalopathy Decreased activity of mitochondrial complex II Abnormal mitochondria in muscle tissue Left ventricular systolic dysfunction Stress/infection-induced lactic acidosis Hypoplasia of the corpus callosum Recurrent infections Primary amenorrhea Arthritis Autoimmunity Anal atresia Hemolytic anemia Bifid uvula Chorea Underdeveloped nasal alae Amenorrhea Peripheral demyelination Hearing abnormality Pierre-Robin sequence Left ventricular noncompaction Rod-cone dystrophy Perineal fistula Congenital conductive hearing impairment Right aortic arch with mirror image branching Sacral meningocele Unilateral lung agenesis Unilateral primary pulmonary dysgenesis Respiratory insufficiency Hyporeflexia Polydactyly Central nervous system degeneration Dyspnea Hepatosplenomegaly Photophobia Elevated hepatic transaminase Myalgia Abnormality of the liver Cough Generalized tonic-clonic seizures Delayed puberty Vascular ring Arteria lusoria Truncus arteriosus Interrupted aortic arch Myelomeningocele Echolalia Abnormality of the endocrine system Pulmonary artery atresia Juvenile rheumatoid arthritis Seborrheic dermatitis Aplasia of the uterus Graves disease Platybasia Aplasia of the thymus Mood swings Right aortic arch Impaired T cell function Duodenal stenosis Paranoia Giant platelets Velopharyngeal insufficiency Conotruncal defect Psychotic episodes Paraganglioma Ketonuria Lymphadenopathy Aplasia cutis congenita of scalp Cortical dysplasia Absent septum pellucidum Occipital encephalocele Aplasia cutis congenita Vitreoretinopathy Calvarial skull defect Large forehead Anomalous pulmonary venous return Total anomalous pulmonary venous return Ectopia lentis Macular hypoplasia Lens luxation Band keratopathy Lymphangioma Phthisis bulbi Abnormal vitreous humor morphology Cerebellar malformation Exudative retinal detachment Peripapillary atrophy Dextrocardia Corneal dystrophy Bifid ureter Inverted nipples Muscular hypotonia of the trunk Delayed myelination Decreased fetal movement Stereotypy Short chin Poor head control Overfolded helix Delayed ability to walk Pain insensitivity Abnormality of the hair Oval face Horizontal eyebrow Overfolding of the superior helices Broad chin Polymicrogyria Retinal detachment Thin skin Encephalocele Pachygyria Occipital meningocele Cephalocele Preeclampsia Increased serum lactate Arrhythmia Babinski sign Acidosis Proximal muscle weakness Lactic acidosis Tetraplegia Generalized muscle weakness Generalized myoclonic seizures Spastic tetraplegia Limited mobility of proximal interphalangeal joint Leukodystrophy Congenital hip dislocation Exercise intolerance External ophthalmoplegia Ragged-red muscle fibers Easy fatigability Oral-pharyngeal dysphagia Rhabdomyolysis Ketosis Muscle weakness Impaired collagen-induced platelet aggregation Rigidity Megaloblastic anemia Abnormality of the nervous system Apnea Neurodegeneration Type I diabetes mellitus Anosmia Blurred vision Atrophy/Degeneration affecting the brainstem Dyschromatopsia Central apnea Diffuse leukoencephalopathy Neurogenic bladder Stroke-like episode Histiocytosis Central diabetes insipidus Respiratory arrest Pollakisuria Sideroblastic anemia Gastric ulcer Central sleep apnea Infertility Stage 5 chronic kidney disease Abnormality of the nail Abnormal muscle tone Abnormality of the urethra Lumbar scoliosis Abnormality of dental color Epigastric pain Abnormal chorioretinal morphology Urethral stricture Impaired temperature sensation Female hypogonadism Albuminuria Abnormal spermatogenesis Squared iliac bones Urethral obstruction Abnormality of the pituitary gland Hepatic necrosis Chronic hepatic failure Facial hirsutism ST segment depression Multifocal atrial tachycardia Childhood-onset truncal obesity Chronic infection Decreased glomerular filtration rate Increased circulating androgen level Chills Abnormal renal physiology Abnormal left ventricle morphology Tubulointerstitial fibrosis Elevated C-reactive protein level Arteriosclerosis Urinary retention Poor fine motor coordination Pyelonephritis Acute pancreatitis First degree atrioventricular block Achromatopsia Hepatic encephalopathy Abnormality of female external genitalia Multinodular goiter Bull's eye maculopathy Vertical nystagmus Increased total bilirubin Hematemesis Melena High-frequency sensorineural hearing impairment Exudative retinopathy Retinal pigment epithelial atrophy Falls Erythema Pectus carinatum Pruritus Nail dystrophy Abnormality of the cerebral white matter Ichthyosis Peripheral axonal neuropathy Abnormality of skin pigmentation Bruising susceptibility EEG abnormality Palmoplantar keratoderma Nevus Intestinal malrotation Premature birth Fine hair Inflammatory abnormality of the skin Decreased body weight Cafe-au-lait spot Cerebral visual impairment Abnormality of the eye Polyhydramnios Nonproductive cough Glue ear Abnormal adipose tissue morphology Chronic active hepatitis Hyperostosis frontalis interna Receptive language delay Granular macular appearance Thickened ears Dilatation of the bladder Unilateral breast hypoplasia Recurrent cystitis Edema 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 Vitreous haze Abnormality of the femoral head Disinhibition Endocardial fibroelastosis Nausea Hyperlipidemia Sinusitis Gynecomastia Short toe Recurrent pneumonia Generalized hirsutism Absence seizures Acanthosis nigricans Atherosclerosis Pancreatitis Decreased liver function Hypercholesterolemia Tachypnea Cone/cone-rod dystrophy Goiter Elevated alkaline phosphatase Hyperinsulinemia Lipodystrophy Polydipsia Aplasia/Hypoplasia of the cerebellum Hepatic fibrosis Insulin resistance Impaired vibratory sensation Gastrointestinal hemorrhage Cirrhosis Tachycardia Hepatic failure Nephropathy Ascites Asthma Urinary incontinence Round face Decreased testicular size Abnormality of retinal pigmentation Cyanosis Hepatitis Optic disc pallor Epidermal acanthosis Pulmonary arterial hypertension Hypertriglyceridemia Left ventricular hypertrophy Chronic diarrhea Anorexia Constriction of peripheral visual field Hyperostosis Menstrual irregularities Tubular atrophy Broad foot Ketoacidosis Gingivitis Pendular nystagmus Attenuation of retinal blood vessels Elevated serum creatinine Acute hepatic failure Recurrent bronchitis Myocarditis Oligomenorrhea Oligospermia Male hypogonadism Myocardial fibrosis Chronic fatigue Chronic obstructive pulmonary disease Esophageal varix Restrictive cardiomyopathy Ovarian cyst Decreased HDL cholesterol concentration Posterior subcapsular cataract Hyperventilation Hyperglycemia Glomerulopathy Emphysema Pulmonary fibrosis Urinary urgency Truncal obesity Abnormal retinal morphology Pericardial effusion Short finger Progressive sensorineural hearing impairment Glycosuria Peripheral visual field loss Bronchitis Hyperuricemia Increased number of teeth Subcapsular cataract Pericarditis Thoracic scoliosis Hypoventilation Insulin-resistant diabetes mellitus Retinal atrophy Dysplastic tricuspid valve



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