Tremor, and Mitral valve prolapse

Diseases related with Tremor and Mitral valve prolapse

In the following list you will find some of the most common rare diseases related to Tremor and Mitral valve prolapse that can help you solving undiagnosed cases.


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Medium match AUTOSOMAL RECESSIVE SPASTIC ATAXIA OF CHARLEVOIX-SAGUENAY


Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a neurodegenerative disorder characterised by early-onset cerebellar ataxia with spasticity, a pyramidal syndrome and peripheral neuropathy.

AUTOSOMAL RECESSIVE SPASTIC ATAXIA OF CHARLEVOIX-SAGUENAY Is also known as autosomal recessive spastic ataxia type 6|charlevoix-saguenay spastic ataxia|autosomal recessive spastic ataxia of charlevoix-saguenay|spax6|spastic ataxia 6, autosomal recessive|arsacs

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Scoliosis
  • Ataxia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC ATAXIA OF CHARLEVOIX-SAGUENAY

Medium match NIEMANN-PICK DISEASE, TYPE C1; NPC1


Niemann-Pick type C (NPC) disease is an autosomal recessive lipid storage disorder characterized by progressive neurodegeneration. Approximately 95% of cases are caused by mutations in the NPC1 gene, referred to as type C1; 5% are caused by mutations in the NPC2 gene (OMIM ), referred to as type C2 (OMIM ). The clinical manifestations of types C1 and C2 are similar because the respective genes are both involved in egress of lipids, particularly cholesterol, from late endosomes or lysosomes (summary by Vance, 2006).Historically, Crocker (1961) delineated 4 types of Niemann-Pick disease: the classic infantile form (type A; {257200}), the visceral form (type B; {607616}), the subacute or juvenile form (type C), and the Nova Scotian variant (type D). Types C1 and D are indistinguishable except for the occurrence of type D in patients of Nova Scotian Acadian ancestry. Since then, types E and F have also been described (see {607616}), and phenotypic variation within each group has also been described.

NIEMANN-PICK DISEASE, TYPE C1; NPC1 Is also known as niemann-pick disease, type c|niemann-pick disease with cholesterol esterification block|neurovisceral storage disease with vertical supranuclear ophthalmoplegia|niemann-pick disease, subacute juvenile form|npc|niemann-pick disease without sphingomyelinase

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about NIEMANN-PICK DISEASE, TYPE C1; NPC1

Medium match AUTOSOMAL RECESSIVE PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA


Progressive external ophthalmoplegia (PEO) is characterized by multiple mitochondrial DNA (mtDNA) deletions in skeletal muscle. The most common clinical features include adult-onset of weakness of the external eye muscles and exercise intolerance. Additional symptoms are variable, and may include cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and parkinsonism. Less common features include mitral valve prolapse, cardiomyopathy, and gastrointestinal dysmotility. Both autosomal dominant and autosomal recessive inheritance can occur; autosomal recessive inheritance is usually more severe (Filosto et al., 2003; Luoma et al., 2004).Drachman (1975) gave a classification of disorders associated with progressive external ophthalmoplegia, which he termed 'ophthalmoplegia plus' (Drachman, 1968). Genetic Heterogeneity of Autosomal Recessive External Ophthalmoplegia with Mitochondrial DNA DeletionsSee also PEOB2 (OMIM ), caused by mutation in the RNASEH1 gene (OMIM ) on chromosome 2p25; PEOB3 (OMIM ), caused by mutation in the TK2 gene (OMIM ) on chromosome 16q21; PEOB4 (OMIM ), caused by mutation in the DGUOK gene (OMIM ) on chromosome 2p13; and PEOB5 (OMIM ), caused by mutation in the TOP3A gene (OMIM ) on chromosome 17p11.

AUTOSOMAL RECESSIVE PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA Is also known as arpeo|progressive external ophthalmoplegia, autosomal recessive 1

Related symptoms:

  • Seizures
  • Hearing impairment
  • Ataxia
  • Muscle weakness
  • Cataract


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA

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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 FABRY DISEASE


Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations.

FABRY DISEASE Is also known as ceramide trihexosidase deficiency|hereditary dystopic lipidosis|fd|alpha-galactosidase a deficiency|diffuse angiokeratoma|gla deficiency|angiokeratoma corporis diffusum|anderson-fabry disease

Related symptoms:

  • Seizures
  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment
  • Pain


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about FABRY DISEASE

Low match MEGACONIAL CONGENITAL MUSCULAR DYSTROPHY


Megaconial-type congenital muscular dystrophy is an autosomal recessive disorder characterized by early-onset muscle wasting and mental retardation. Some patients develop fatal cardiomyopathy. Muscle biopsy shows peculiar enlarged mitochondria that are prevalent toward the periphery of the fibers but are sparse in the center (summary by Mitsuhashi et al., 2011).

MEGACONIAL CONGENITAL MUSCULAR DYSTROPHY Is also known as muscular dystrophy, congenital, with mitochondrial structural abnormalities|congenital megaconial myopathy|congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect|congenital muscular dystrophy with mitochondrial structural abnormaliti

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MEGACONIAL CONGENITAL MUSCULAR DYSTROPHY

Low match GELEOPHYSIC DYSPLASIA 2; GPHYSD2


Related symptoms:

  • Short stature
  • Hypertelorism
  • Hepatomegaly
  • Respiratory insufficiency
  • Short nose


SOURCES: OMIM MENDELIAN

More info about GELEOPHYSIC DYSPLASIA 2; GPHYSD2

Low match CAP MYOPATHY


Cap myopathy is a very rare congenital myopathy presenting a weakness of facial and respiratory muscles associated with craniofacial and thoracic deformities, as well as weakness of limb proximal and distal muscles. Onset is at birth or in childhood, weakness progression is slow but may lead to a severe and even fatal prognosis.

CAP MYOPATHY Is also known as cap disease

Related symptoms:

  • Generalized hypotonia
  • Muscle weakness
  • High palate
  • Motor delay
  • Myopathy


SOURCES: MESH ORPHANET MENDELIAN

More info about CAP MYOPATHY

Low match FAMILIAL PORENCEPHALY


Porencephaly is a term used for any cavitation or cerebrospinal fluid-filled cyst in the brain. One form, called encephaloclastic, or type 1, porencephaly, is usually unilateral and results from focal destructive lesions such as fetal vascular occlusion or birth trauma. Another form, called schizencephalic, or type 2, porencephaly, is usually symmetric and represents a primary defect or arrest in the development of the cerebral ventricles. Encephaloclastic porencephaly is more common (Airaksinen, 1984; Sensi et al., 1990). Genetic Heterogeneity of PorencephalySee also POREN2 (OMIM ), caused by mutation in the COL4A2 gene (OMIM ).

FAMILIAL PORENCEPHALY Is also known as t1p|porencephaly, type 1, autosomal dominant|adt1p|hemiplegia, infantile, with porencephaly porencephaly, type 1

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Strabismus
  • Cataract


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL PORENCEPHALY

Low match NEMALINE MYOPATHY 4; NEM4


Related symptoms:

  • Generalized hypotonia
  • Micrognathia
  • Muscle weakness
  • Muscular hypotonia
  • Ptosis


SOURCES: OMIM MESH MENDELIAN

More info about NEMALINE MYOPATHY 4; NEM4

Top 5 symptoms//phenotypes associated to Tremor and Mitral valve prolapse

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Dysarthria Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Cognitive impairment Uncommon - Between 30% and 50% cases
Myopathy Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Tremor and Mitral valve prolapse. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia Muscle weakness Spasticity Behavioral abnormality Hearing impairment Cataract Ataxia Motor delay Global developmental delay Stroke Mitral regurgitation Elevated serum creatine phosphokinase Facial palsy Dysphonia Muscular hypotonia Dilatation Gowers sign Anemia Gait disturbance Neonatal hypotonia Developmental regression Abnormality of the cerebral white matter Increased variability in muscle fiber diameter Short stature Ptosis Cardiomyopathy Infantile muscular hypotonia Depressivity Hyporeflexia Aortic root aneurysm Proximal muscle weakness Anxiety Pectus excavatum Hypertonia Respiratory insufficiency Ischemic stroke Hyperreflexia Peripheral neuropathy Dysphagia Cerebellar atrophy Abnormal pyramidal sign Distal muscle weakness Skeletal muscle atrophy

Rare Symptoms - Less than 30% cases


Optic atrophy Visual impairment Dysmetria Reduced bone mineral density Frequent falls Fatigue Flexion contracture Feeding difficulties Delayed speech and language development Waddling gait Pain Dilated cardiomyopathy Scoliosis Hypertension Easy fatigability Thick vermilion border Smooth philtrum Trismus Toe walking Ventricular hypertrophy Unsteady gait Schizophrenia High palate Lower limb muscle weakness Malabsorption Congestive heart failure Intellectual disability, mild Sensorineural hearing impairment Micrognathia Strabismus Scapular winging Hemianopia Gastrointestinal dysmotility Stroke-like episode Thick lower lip vermilion Myocardial infarction Hemiparesis Muscle cramps Hematuria Generalized amyotrophy Mildly elevated creatine phosphokinase Abnormality of the cardiovascular system Aortic valve stenosis Narrow face Ragged-red muscle fibers Exercise intolerance Kyphosis Babinski sign Chest pain Generalized muscle weakness Paresthesia Sudden cardiac death Limb muscle weakness Hypertrophic cardiomyopathy Pes cavus Myoclonus Gait ataxia Difficulty walking Microcephaly Full cheeks Progressive hearing impairment Nasal speech Atrial septal defect Polyuria Hypothyroidism Urinary incontinence Attention deficit hyperactivity disorder Growth delay Intention tremor Delayed skeletal maturation Constipation Loss of consciousness Coronary artery stenosis Transient ischemic attack Abdominal pain Joint stiffness Tubulointerstitial nephritis Large earlobe Vascular tortuosity Intrauterine growth retardation Hyperlordosis Feeding difficulties in infancy Kyphoscoliosis Periorbital fullness Abnormal endocardium morphology Abnormality of the kidney Retinal vascular tortuosity Arthralgia Impotence Coarse facial features Impaired vibratory sensation Cone-shaped epiphysis Pes planus Proteinuria Hepatomegaly Cerebellar hypoplasia Abnormal lung morphology Hemiplegia Skin rash Celiac disease Peripheral axonal neuropathy Ophthalmoplegia Nausea and vomiting Paralysis Renal insufficiency Falls Midface retrusion Neurological speech impairment Long philtrum Abnormality of the nervous system Corneal opacity Distal sensory impairment Restlessness Central hypoventilation Posterior embryotoxon Pneumonia Short nose Abnormality of lipid metabolism Sleep disturbance Dystonia Chronic kidney disease Subcutaneous nodule Bradycardia Prominent supraorbital ridges Lymphedema Coronary artery atherosclerosis Hypohidrosis Abnormality of the hand Anorexia Left ventricular hypertrophy Fasciculations Corneal dystrophy Abnormal autonomic nervous system physiology Tinnitus Polydipsia Ventricular arrhythmia Personality changes Heart murmur Glomerulosclerosis Clubbing Tricuspid regurgitation Diabetes insipidus Anhidrosis Spontaneous abortion Emphysema Aortic regurgitation Ventricular tachycardia Hyperlipidemia Abnormal intestine morphology Atrioventricular block Purpura Aminoaciduria Bundle branch block Sensorimotor neuropathy Palpitations Impaired visuospatial constructive cognition Food intolerance Infantile hypercalcemia Abnormality of the gastric mucosa Renovascular hypertension Abnormal social behavior Flat cornea Supravalvular aortic stenosis Calcification of the aorta Hyperacusis Unilateral renal hypoplasia Myxomatous mitral valve degeneration Paroxysmal bursts of laughter Abnormal carotid artery morphology Abnormality of the diencephalon Medial flaring of the eyebrow Elfin facies Pelvic kidney Retinal arteriolar tortuosity Thyroid hemiagenesis Renal duplication Phonophobia Parathyroid hyperplasia Urethral stenosis Abnormal glucose tolerance Increased nuchal translucency Thyroid hypoplasia Aplasia/Hypoplasia of the iris Colonic diverticula Renal artery stenosis Abnormality of the ankles Tubulointerstitial abnormality Overriding aorta Aortic arch aneurysm Obsessive-compulsive trait Nocturia Synostosis of joints Abnormality of the bladder Bilateral vocal cord paralysis Nystagmus-induced head nodding Atrial fibrillation Nausea Cough Prominent nasal bridge Papule Pruritus Delayed puberty Vertigo Stage 5 chronic kidney disease Tachycardia Carcinoma Bulbous nose Thick eyebrow Nephropathy Abdominal distention Syncope Hypotension Nephrotic syndrome Arthritis Myalgia Overfriendliness Fever Early onset of sexual maturation Dyssynergia Stellate iris Functional abnormality of male internal genitalia Descending aorta hypoplasia Vocal cord dysfunction Atrophy/Degeneration involving the corticospinal tracts Edema Mandibular prognathia Vomiting Diarrhea Headache Arrhythmia Posteriorly rotated ears Hyperhidrosis Hyperkeratosis Dyspnea Elevated erythrocyte sedimentation rate Clubbing of fingers Interstitial pulmonary abnormality Difficulty climbing stairs Pulmonary arterial hypertension Ovoid vertebral bodies Mitral stenosis Long face Lumbar hyperlordosis Reduced tendon reflexes Poor head control Difficulty running Short palm Thoracic scoliosis Lower limb amyotrophy Pes valgus Sinus tachycardia Abnormality of muscle fibers Reduced systolic function Fatiguable weakness of proximal limb muscles Short foot Thin upper lip vermilion Hydrocephalus Abnormal glomerular filtration rate Heavy proteinuria Acroparesthesia Abnormal common carotid artery morphology Abnormal ST segment Increased carotid artery intimal medial thickness Increased glomerular filtration rate Abnormality of the common coagulation pathway Cornea verticillata Hypertelorism Hyperactivity Muscular dystrophy Poor speech Ichthyosis Congenital muscular dystrophy Difficulty standing Mitochondrial depletion Ventriculomegaly Polymicrogyria Left ventricular septal hypertrophy Restrictive ventilatory defect Perivascular spaces Spastic hemiparesis Antenatal intracerebral hemorrhage Progressive muscle weakness Elbow flexion contracture Congenital contracture Myopathic facies Neck muscle weakness Pontocerebellar atrophy Hypoventilation Facial diplegia Nemaline bodies Type 1 muscle fiber predominance Neck flexor weakness Reduced vital capacity Nocturnal hypoventilation Schizencephaly Primitive reflex Hemolytic anemia Cerebral hemorrhage Renal cyst Tetraparesis Exotropia Leukoencephalopathy Cerebral palsy Drooling Intracranial hemorrhage Dysphasia Porencephalic cyst Cortical dysplasia Opisthotonus Visual field defect Limb dystonia Hypoplasia of the iris Facial paralysis Nuclear cataract Tenesmus Tortuosity of conjunctival vessels Progressive sensorineural hearing impairment Abnormality of femur morphology Dysgraphia Angina pectoris Chronic obstructive pulmonary disease Achalasia Sinus bradycardia Myocardial fibrosis Chronic fatigue Abnormality of the nose Reduced ejection fraction Restrictive cardiomyopathy Abnormal myocardium morphology High-frequency hearing impairment Asymmetric septal hypertrophy Abnormal mitral valve morphology Abnormal aortic valve morphology T-wave inversion Peripheral arterial stenosis Heat intolerance Abnormal renal physiology Nystagmus Orthostatic hypotension Telangiectasia of the skin Glomerulopathy Abnormal heart valve morphology Glycosuria Renal tubular acidosis Wheezing Abnormal EKG Supraventricular tachycardia Xerostomia Renal tubular dysfunction Edema of the lower limbs Elevated serum creatinine Tubular atrophy Abnormality of the gastrointestinal tract Oligospermia Miosis Chronic pain Hyperkeratotic papule Shortened PR interval Angiokeratoma Obstructive lung disease Impaired temperature sensation Hyposthenuria Shortened QT interval Angiokeratoma corporis diffusum Decreased lacrimation Concentric hypertrophic cardiomyopathy Increased blood urea nitrogen Mucosal telangiectasiae Unexplained fevers ST segment depression Functional abnormality of the gastrointestinal tract Impaired renal concentrating ability Abnormality of glycosphingolipid metabolism Abnormality of the forehead Reduced sperm motility Distal renal tubular acidosis Tubulointerstitial fibrosis Primary hypothyroidism Abnormal thrombosis Abnormality of the renal tubule Abnormal cornea morphology Dysesthesia Supraventricular arrhythmia Conjunctival telangiectasia Microalbuminuria Biventricular hypertrophy Decreased glomerular filtration rate Abnormality of cardiovascular system physiology Decreased female libido Vascular skin abnormality Corneal crystals Limb pain Abnormality of temperature regulation Nephrogenic diabetes insipidus Abnormality of nervous system morphology Abnormality of dental morphology Arterial stenosis Mask-like facies External ophthalmoplegia EMG: myopathic abnormalities Ophthalmoparesis Postural tremor Emotional lability Steppage gait Sensory axonal neuropathy Muscle stiffness Abnormal retinal morphology Abnormality of the periventricular white matter Mitochondrial myopathy Progressive external ophthalmoplegia Increased CSF protein Progressive proximal muscle weakness Respiratory insufficiency due to muscle weakness Limb ataxia Action tremor Abnormality of the foot Sea-blue histiocytosis Foam cells in visceral organs and CNS Abnormal cholesterol homeostasis Low cholesterol esterification rates Fatal liver failure in infancy Paraplegia Spastic paraplegia Bradykinesia Cerebral atrophy Areflexia EEG abnormality Hypogonadism Rigidity Confusion Parkinsonism Dyschromatopsia Shuffling gait Fetal ascites Depressed nasal bridge Homonymous hemianopia Hypoplasia of the corpus callosum Failure to thrive Abnormal facial shape Cleft palate Cryptorchidism Epicanthus Progressive ophthalmoplegia Wide nasal bridge Myopia Macrocephaly Ventricular septal defect Respiratory distress Abnormality of the dentition Sensory ataxic neuropathy Subsarcolemmal accumulations of abnormally shaped mitochondria Cogwheel rigidity Neuritis Parkinsonism with favorable response to dopaminergic medication Hand muscle weakness Muscle fiber atrophy Positive Romberg sign Increased muscle fatiguability Weak voice Abnormal nerve conduction velocity Multiple mitochondrial DNA deletions Abnormality of the cerebrospinal fluid Muscle fiber necrosis Cytochrome C oxidase-negative muscle fibers Impaired distal vibration sensation Optic neuritis Stooped posture Impaired distal proprioception Congenital thrombocytopenia Rapid neurologic deterioration Malar flattening Abnormal motor evoked potentials Decreased sensory nerve conduction velocity Vitamin E deficiency Impaired tactile sensation Loss of Purkinje cells in the cerebellar vermis Parietal cortical atrophy Abnormality of the pons Hypermyelinated retinal nerve fibers Scanning speech Abnormality of the cerebellar peduncle Progressive truncal ataxia Swan neck-like deformities of the fingers Lower limb spasticity Cerebellar vermis hypoplasia Progressive cerebellar ataxia Gaze-evoked horizontal nystagmus Decreased number of large peripheral myelinated nerve fibers Splenomegaly Progressive spastic paraplegia Absence seizures Decreased nerve conduction velocity Hammertoe Decreased motor nerve conduction velocity Urinary urgency Progressive spasticity Cerebellar vermis atrophy Spastic ataxia Impaired vibration sensation in the lower limbs Arachnoid cyst Progressive gait ataxia Impaired smooth pursuit Demyelinating peripheral neuropathy Absent Achilles reflex Upper motor neuron dysfunction Abnormal cerebellum morphology Thrombocytopenia Bone-marrow foam cells Supranuclear gaze palsy Clumsiness Athetosis Prolonged neonatal jaundice Neurofibrillary tangles Loss of speech Head tremor Spastic dysarthria Psychosis Aplasia/Hypoplasia of the abdominal wall musculature Foam cells Visceromegaly Vertical supranuclear gaze palsy Cataplexy Supranuclear ophthalmoplegia Progressive neurologic deterioration Intellectual disability, profound Dementia Retinal degeneration Jaundice Hepatosplenomegaly Distal amyotrophy Mental deterioration Generalized tonic-clonic seizures Abnormality of movement Cirrhosis Spastic tetraplegia Bruising susceptibility Neurodegeneration Ascites Tetraplegia Chorea Neuronal loss in central nervous system Oligohydramnios Abnormality of the skeletal system Absent speech Rectal prolapse Unilateral renal agenesis Precocious puberty Portal hypertension Abnormality of the voice Nephritis Chronic otitis media Obsessive-compulsive behavior Foot dorsiflexor weakness Failure to thrive in infancy Hypoplastic toenails Tracheoesophageal fistula Glucose intolerance Open bite Hallux valgus Premature graying of hair Radioulnar synostosis Hypercalcemia High hypermetropia Sacral dimple Abnormality of the fingernails Spina bifida occulta Cutis laxa Abnormal dermatoglyphics Widely spaced teeth Bicuspid aortic valve Brachydactyly Redundant skin Arnold-Chiari malformation Adducted thumb Abnormality of pelvic girdle bone morphology Incoordination Polycystic ovaries Hypercalciuria Cholelithiasis Vertebral segmentation defect Prematurely aged appearance Nephrocalcinosis Peripheral pulmonary artery stenosis Villous atrophy Dyslexia Cerebral ischemia Abnormality of refraction Gait imbalance Decreased plasma carnitine Subvalvular aortic stenosis Abnormality of the cerebral vasculature Abnormal renal morphology Lacrimation abnormality Bladder diverticulum Cystic renal dysplasia Peptic ulcer Periorbital edema Enuresis Abnormality of the neck Facial cleft Pulmonary artery stenosis Insomnia Megalocornea Arnold-Chiari type I malformation Nevus flammeus Soft skin Poor coordination Abnormality of the vasculature Right ventricular hypertrophy Patellar dislocation Multiple renal cysts Down-sloping shoulders Vocal cord paralysis Blue irides Hypoplasia of the zygomatic bone Chronic constipation Abnormality of dental enamel Hemivertebrae Hernia Craniosynostosis Intellectual disability, moderate Low-set, posteriorly rotated ears Irritability Protruding ear Autistic behavior Wide mouth Blepharophimosis Joint laxity Scarring Abnormal cardiac septum morphology Broad forehead Small for gestational age Pulmonic stenosis Carious teeth Cleft lip Umbilical hernia Joint hyperflexibility Osteoporosis Obesity Patent ductus arteriosus Abnormal heart morphology Inguinal hernia Clinodactyly of the 5th finger Recurrent respiratory infections Diabetes mellitus Osteopenia Glaucoma Cerebral cortical atrophy Micropenis Autism Gastroesophageal reflux High forehead Macrotia Genu valgum Oral cleft Hypogonadotrophic hypogonadism Involuntary movements Type II diabetes mellitus Renal hypoplasia Small nail Recurrent otitis media Open mouth Abnormal form of the vertebral bodies Recurrent urinary tract infections Cardiomegaly Nephrolithiasis Amblyopia Gingival overgrowth Hoarse voice Increased bone mineral density Increased body weight Pointed chin Hypsarrhythmia Coarctation of aorta Everted lower lip vermilion Esotropia Postural instability Hypodontia Broad nasal tip Macroglossia Vesicoureteral reflux Dental malocclusion Otitis media Abnormality of extrapyramidal motor function Renal agenesis Microdontia Dehydration Tetralogy of Fallot Narrow forehead Hypotelorism Hypoplasia of penis Generalized limb muscle atrophy



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