Ataxia, and Mitral valve prolapse

Diseases related with Ataxia and Mitral valve prolapse

In the following list you will find some of the most common rare diseases related to Ataxia 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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Medium 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

Medium 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 NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION


Neurofibromatosis type I is an autosomal dominant disorder characterized by cafe-au-lait spots, Lisch nodules in the eye, and fibromatous tumors of the skin. Individuals with the disorder have increased susceptibility to the development of benign and malignant tumors. NF1 is sometimes referred to as 'peripheral neurofibromatosis.' The worldwide incidence of NF1 is 1 in 2,500 to 1 in 3,000 individuals (reviews by Shen et al., 1996 and Williams et al., 2009).Type II neurofibromatosis (NF2 ) is a genetically distinct disorder caused by mutation in the gene encoding merlin (NF2 ) on chromosome 22q12. NF2, sometimes known as 'central neurofibromatosis,' is characterized by bilateral acoustic neuroma and meningioma, but few skin lesions or neurofibromas (Rouleau et al., 1993).Some patients with homozygous or compound heterozygous mutations in mismatch repair genes (see, e.g., MLH1; {120436} and MSH2; {609309}) have a phenotype characterized by early onset malignancies and mild features of NF1, especially cafe-au-lait spots; this is known as the mismatch repair cancer syndrome (OMIM ), sometimes referred to as brain tumor-polyposis syndrome-1 or Turcot syndrome. These patients typically do not have germline mutations in the NF1 gene, although a study by Wang et al. (2003) suggested that biallelic mutations in mismatch repair genes may cause somatic mutations in the NF1 gene, perhaps resulting in isolated features resembling NF1.See also Legius syndrome (OMIM ), a genetically distinct disorder with a similar phenotype to NF1.

NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION Is also known as von recklinghausen disease due to nf1 mutation or intragenic deletion|neurofibromatosis, peripheral type|von recklinghausen disease

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION

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 COHEN SYNDROME; COH1


Cohen syndrome is an autosomal recessive multisystem disorder characterized by many clinical features, including facial dysmorphism, microcephaly, truncal obesity, intellectual disability, progressive retinopathy, and intermittent congenital neutropenia (summary by Duplomb et al., 2014).

COHEN SYNDROME; COH1 Is also known as chs1, formerly|pepper syndrome|coh|hypotonia, obesity, and prominent incisors

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about COHEN SYNDROME; COH1

Low match JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME; JPHT


The JPHT syndrome includes the features of both the juvenile polyposis syndrome (JPS ) and hereditary hemorrhagic telangiectasia (HHT ) in a single individual. JPS is characterized by hamartomatous polyps occurring throughout the gastrointestinal tract, resulting in an increased risk of gastrointestinal cancer, and HHT is a vascular dysplasia characterized by telangiectases of the skin, and oral and nasal mucosa, epistaxis, and arteriovenous malformations (AVMs) of the lungs, liver, brain, and gastrointestinal tract (summary by Gallione et al., 2010).

JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME; JPHT Is also known as jps/hht|polyposis, generalized juvenile, with pulmonary arteriovenous malformation|telangiectasia, hereditary hemorrhagic, with juvenile polyposis coli|juvenile polyposis with hereditary hemorrhagic telangiectasia|jp/hht syndrome

Related symptoms:

  • Neoplasm
  • Anemia
  • Ventriculomegaly
  • Dilatation
  • Visual loss


SOURCES: OMIM MENDELIAN

More info about JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME; JPHT

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

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

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Dysarthria Common - Between 50% and 80% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Stroke Cognitive impairment Behavioral abnormality Scoliosis Paralysis Elevated serum creatine phosphokinase Myopathy Cardiomyopathy Cataract Anemia Visual impairment Dilatation Hearing impairment Ptosis Motor delay Spasticity Muscle weakness Neurological speech impairment Neonatal hypotonia Pes planus Pectus excavatum Microcephaly Depressivity Precocious puberty Attention deficit hyperactivity disorder Intellectual disability, mild Dysphonia Delayed speech and language development Tremor Intrauterine growth retardation Muscular hypotonia Growth delay Facial palsy Mitral regurgitation Short stature Strabismus Kyphoscoliosis Hemiparesis Cerebellar atrophy Abnormal pyramidal sign Abnormality of the skeletal system Visual loss Dysphagia Peripheral axonal neuropathy Macrocephaly Hyperreflexia Peripheral neuropathy Genu valgum Abnormal facial shape Cerebellar hypoplasia

Rare Symptoms - Less than 30% cases


Hypertonia Anxiety Dilated cardiomyopathy Respiratory distress Ventricular septal defect Proximal muscle weakness Myopia Depressed nasal bridge Cryptorchidism Posterior embryotoxon Sensorineural hearing impairment Hyporeflexia Restlessness Micrognathia Cerebral hemorrhage Failure to thrive Optic atrophy Pulmonic stenosis Intracranial hemorrhage Atrial septal defect Paresthesia Hydrocephalus Coarctation of aorta Abnormality of the cardiovascular system Tetralogy of Fallot Hypertelorism Neoplasm Pain Hypertension Gastrointestinal hemorrhage Blindness Thoracic scoliosis Abnormal heart morphology Osteoporosis Glaucoma Abnormality of skin pigmentation Autism Osteopenia Hypertrophic cardiomyopathy Autistic behavior Hypsarrhythmia Venous thrombosis Exotropia Hemianopia Renovascular hypertension Renal artery stenosis Vocal cord paralysis Sensory axonal neuropathy Increased variability in muscle fiber diameter Mildly elevated creatine phosphokinase Generalized amyotrophy Stroke-like episode Joint hypermobility Reduced bone mineral density Arthritis Hyperactivity Frequent falls Infantile muscular hypotonia Gowers sign High palate Lumbar hyperlordosis Incoordination Kyphosis Celiac disease Schizophrenia Sensorimotor neuropathy Dystonia Gait disturbance Ventriculomegaly Joint laxity Intellectual disability, moderate Ischemic stroke Feeding difficulties in infancy Protruding ear Clumsiness Wide mouth Small for gestational age Joint hyperflexibility Smooth philtrum Thick vermilion border Gingival overgrowth Thrombocytopenia Gait ataxia Nystagmus Skeletal muscle atrophy Abnormality of extrapyramidal motor function Babinski sign Pes cavus Myoclonus Distal muscle weakness Intention tremor Narrow forehead Open mouth Dysmetria Falls Otitis media Distal sensory impairment Macrotia Malabsorption Gastroesophageal reflux Abnormality of dental morphology Sleep disturbance Abnormality of the cerebral white matter Diabetes mellitus Ophthalmoplegia Developmental regression Obesity Radioulnar synostosis Hernia Clinodactyly of the 5th finger Malar flattening Retinal degeneration Hypothyroidism Failure to thrive in infancy Pointed chin Overriding aorta Tubulointerstitial abnormality Increased nuchal translucency Narrow face Increased bone mineral density Retinal vascular tortuosity Abnormality of the ankles Increased body weight Vascular tortuosity Thyroid hypoplasia Nephrocalcinosis Colonic diverticula Nephritis Hypogonadotrophic hypogonadism Hoarse voice Abnormality of the voice Renal duplication Aplasia/Hypoplasia of the iris Abnormal endocardium morphology Abnormality of dental enamel Hemivertebrae Aortic arch aneurysm Vertebral segmentation defect Obsessive-compulsive trait Open bite Glucose intolerance Thick lower lip vermilion Tracheoesophageal fistula Hyperacusis Polyuria Hypoplastic toenails Unilateral renal agenesis Myocardial infarction Loss of consciousness Retinal arteriolar tortuosity Recurrent otitis media Coronary artery stenosis Abnormal form of the vertebral bodies Nocturia Hallux valgus Premature graying of hair Obsessive-compulsive behavior Involuntary movements Recurrent urinary tract infections Nephrolithiasis Amblyopia Abnormality of the bladder Synostosis of joints Spina bifida occulta Chronic otitis media Aortic valve stenosis Abnormality of the fingernails Abnormal glucose tolerance Cutis laxa Abnormality of the vasculature Right ventricular hypertrophy Sacral dimple Portal hypertension Arnold-Chiari malformation Chronic constipation Hypoplasia of the zygomatic bone Blue irides Down-sloping shoulders Multiple renal cysts Patellar dislocation Adducted thumb Prematurely aged appearance Pulmonary artery stenosis Large earlobe Abnormality of pelvic girdle bone morphology Poor coordination Soft skin Nevus flammeus Arnold-Chiari type I malformation Polycystic ovaries Hypercalciuria Abnormality of lipid metabolism Cholelithiasis Facial cleft Hypercalcemia Megalocornea Insomnia Tubulointerstitial nephritis Abnormality of the neck Abnormal dermatoglyphics Cystic renal dysplasia Progressive hearing impairment Redundant skin Urethral stenosis Parathyroid hyperplasia Phonophobia Abnormality of nervous system morphology High hypermetropia Dysgraphia Arterial stenosis Rectal prolapse Periorbital edema Peptic ulcer Bladder diverticulum Abnormality of the cerebral vasculature Lacrimation abnormality Abnormal renal morphology Subvalvular aortic stenosis Peripheral pulmonary artery stenosis Decreased plasma carnitine Periorbital fullness Gait imbalance Abnormality of refraction Bicuspid aortic valve Cerebral ischemia Dyslexia Villous atrophy Enuresis Widely spaced teeth Edema Pelvic kidney Chorioretinal dysplasia Hyperplasia of the maxilla Laryngeal stenosis Chorioretinal dystrophy Cutis gyrata of scalp Hemeralopia Narrow palm Narrow philtrum High-pitched cry Granulocytopenia Thick corpus callosum Prominent eyelashes Macrodontia of permanent maxillary central incisor Childhood-onset truncal obesity Hypoplastic philtrum Cat cry Slender toe Arrhythmia Congenital neutropenia Bull's eye maculopathy Telangiectasia Deep venous thrombosis Subcapsular cataract Peripheral visual field loss Hiatus hernia Posterior subcapsular cataract Gingivitis Microglossia Facial hypotonia Misalignment of teeth Furrowed tongue Macrodontia Macular edema Bone spicule pigmentation of the retina Abnormality of the larynx Aplasia/Hypoplasia of the earlobes Recurrent aphthous stomatitis Tapetoretinal degeneration Thick hair Iris atrophy Epistaxis Hemangioma Narrow nasal bridge Hypoplasia of the iris Cerebral palsy Drooling Hemiplegia Dysphasia Cortical dysplasia Opisthotonus Visual field defect Limb dystonia Transient ischemic attack Tetraparesis Facial paralysis Nuclear cataract Porencephalic cyst Primitive reflex Pontocerebellar atrophy Schizencephaly Perivascular spaces Spastic hemiparesis Leukoencephalopathy Muscle cramps Aortic aneurysm Hamartomatous polyposis Clubbing Colon cancer Iron deficiency anemia Subarachnoid hemorrhage Aortic dissection Hematochezia Arteriovenous malformation Cavernous hemangioma Cerebral arteriovenous malformation Renal cyst Gastrointestinal carcinoma Pulmonary arteriovenous malformation Hepatic arteriovenous malformation Intrapulmonary shunt Juvenile gastrointestinal polyposis Polymicrogyria Hemolytic anemia Hematuria Weak cry Abnormality of the hip bone Food intolerance Reduced visual acuity Descending aorta hypoplasia Vocal cord dysfunction Atrophy/Degeneration involving the corticospinal tracts Downslanted palpebral fissures Renal hypoplasia Microphthalmia Recurrent infections Rod-cone dystrophy Mandibular prognathia Stellate iris Retrognathia Thin upper lip vermilion Postnatal growth retardation Respiratory tract infection Retinopathy Nyctalopia Short philtrum Prominent nasal bridge Functional abnormality of male internal genitalia Dyssynergia Severe global developmental delay Myxomatous mitral valve degeneration Infantile hypercalcemia Abnormality of the gastric mucosa Abnormal social behavior Flat cornea Supravalvular aortic stenosis Impaired visuospatial constructive cognition Calcification of the aorta Unilateral renal hypoplasia Paroxysmal bursts of laughter Early onset of sexual maturation Abnormal carotid artery morphology Abnormality of the diencephalon Medial flaring of the eyebrow Elfin facies Bilateral vocal cord paralysis Thyroid hemiagenesis Nystagmus-induced head nodding Overfriendliness Finger syndactyly Synophrys Truncal obesity Sandal gap High myopia Tall stature Long eyelashes Abnormality of retinal pigmentation Progressive microcephaly Preauricular skin tag Low anterior hairline Intellectual disability, progressive Leukopenia Pigmentary retinopathy Recurrent skin infections Laryngomalacia Reduced number of teeth Short metatarsal Rheumatoid arthritis Cubitus valgus Constriction of peripheral visual field Disproportionate tall stature Decreased fetal movement Progressive visual loss Delayed puberty Highly arched eyebrow Astigmatism Arachnodactyly Thick eyebrow Iris coloboma Retinal dystrophy High, narrow palate Small hand Retinal detachment Tapered finger Convex nasal ridge Single transverse palmar crease Neutropenia Microcornea Hypoplasia of the maxilla Short metacarpal Prominent nose Growth hormone deficiency Aciduria Small nail Abnormality of the dentition Ventricular hypertrophy Parkinsonism Areflexia Hypogonadism Rigidity Limb muscle weakness Confusion Generalized muscle weakness Bradykinesia Fatigue Limb ataxia Muscle stiffness Exercise intolerance Scapular winging Respiratory insufficiency due to muscle weakness External ophthalmoplegia Ragged-red muscle fibers Cerebral atrophy Fatal liver failure in infancy Ophthalmoparesis Cataplexy Supranuclear gaze palsy Spastic dysarthria Aplasia/Hypoplasia of the abdominal wall musculature Foam cells Visceromegaly Vertical supranuclear gaze palsy Supranuclear ophthalmoplegia Low cholesterol esterification rates Bone-marrow foam cells Rapid neurologic deterioration Fetal ascites Congenital thrombocytopenia Sea-blue histiocytosis Foam cells in visceral organs and CNS Abnormal cholesterol homeostasis EMG: myopathic abnormalities Postural tremor Trismus Stooped posture Abnormal nerve conduction velocity Abnormality of the cerebrospinal fluid Muscle fiber necrosis Cytochrome C oxidase-negative muscle fibers Impaired distal vibration sensation Optic neuritis Impaired distal proprioception Weak voice Multiple mitochondrial DNA deletions Subsarcolemmal accumulations of abnormally shaped mitochondria Progressive ophthalmoplegia Sensory ataxic neuropathy Homonymous hemianopia Muscular dystrophy Poor speech Neuritis Increased muscle fatiguability Emotional lability Progressive proximal muscle weakness Steppage gait Mask-like facies Abnormal retinal morphology Abnormality of the periventricular white matter Mitochondrial myopathy Progressive external ophthalmoplegia Increased CSF protein Dyschromatopsia Positive Romberg sign Action tremor Shuffling gait Gastrointestinal dysmotility Cogwheel rigidity Parkinsonism with favorable response to dopaminergic medication Hand muscle weakness Muscle fiber atrophy Head tremor Loss of speech Waddling gait Cerebellar vermis atrophy Hammertoe Decreased motor nerve conduction velocity Impotence Urinary urgency Progressive spasticity Progressive spastic paraplegia Impaired vibration sensation in the lower limbs Cone-shaped epiphysis Arachnoid cyst Progressive gait ataxia Impaired smooth pursuit Demyelinating peripheral neuropathy Absent Achilles reflex Upper motor neuron dysfunction Spastic ataxia Impaired vibratory sensation Decreased nerve conduction velocity Scanning speech Paraplegia Brachydactyly Hypoplasia of the corpus callosum Difficulty walking EEG abnormality Spastic paraplegia Abnormality of the foot Unsteady gait Absence seizures Distal amyotrophy Abnormal cerebellum morphology Progressive cerebellar ataxia Urinary incontinence Cerebellar vermis hypoplasia Lower limb spasticity Foot dorsiflexor weakness Decreased number of large peripheral myelinated nerve fibers Gaze-evoked horizontal nystagmus Neurofibrillary tangles Chorea Abnormality of movement Cirrhosis Bruising susceptibility Neurodegeneration Ascites Tetraplegia Neuronal loss in central nervous system Skin rash Oligohydramnios Spastic tetraplegia Intellectual disability, profound Psychosis Progressive neurologic deterioration Athetosis Prolonged neonatal jaundice Generalized tonic-clonic seizures Mental deterioration Decreased sensory nerve conduction velocity Abnormality of the cerebellar peduncle Vitamin E deficiency Impaired tactile sensation Loss of Purkinje cells in the cerebellar vermis Parietal cortical atrophy Abnormality of the pons Abnormal motor evoked potentials Hypermyelinated retinal nerve fibers Progressive truncal ataxia Abnormality of the nervous system Swan neck-like deformities of the fingers Hepatomegaly Splenomegaly Pneumonia Dementia Jaundice Hepatosplenomegaly Ichthyosis Congenital muscular dystrophy Type II diabetes mellitus Renal insufficiency Feeding difficulties Epicanthus Wide nasal bridge Congestive heart failure Short nose Long philtrum Midface retrusion Cleft palate Absent speech Patent ductus arteriosus Inguinal hernia Delayed skeletal maturation Constipation Recurrent respiratory infections Abdominal pain Flexion contracture Brow ptosis Micropenis Neurofibrosarcoma Pseudoarthrosis Single ventricle Axillary freckling Embryonal rhabdomyosarcoma Vestibular Schwannoma Neuroma Optic nerve glioma Tibial pseudoarthrosis Subcutaneous neurofibromas Acute promyelocytic leukemia Plexiform neurofibroma Inguinal freckling Spinal neurofibromas Arterial fibromuscular dysplasia Cerebral artery stenosis Cerebral cortical atrophy High forehead Epigastric pain Vesicoureteral reflux Hypodontia Broad nasal tip Macroglossia Full cheeks Sudden cardiac death Chest pain Dental malocclusion Everted lower lip vermilion Esotropia Renal agenesis Microdontia Dehydration Hypotelorism Hypoplasia of penis Cardiomegaly Postural instability Oral cleft Arthralgia Irritability Coarse facial features Umbilical hernia Proteinuria Cleft lip Low-set, posteriorly rotated ears Abnormality of the kidney Hyperlordosis Joint stiffness Carious teeth Craniosynostosis Blepharophimosis Scarring Abnormal cardiac septum morphology Broad forehead Corneal opacity Nausea and vomiting Soft tissue sarcoma Dural ectasia Difficulty standing Recurrent fractures Abnormality of cardiovascular system morphology Weight loss Hypoglycemia Leukemia Pruritus Facial asymmetry Lymphoma Respiratory insufficiency Specific learning disability Overgrowth Aganglionic megacolon Cafe-au-lait spot Bone pain Spina bifida Atherosclerosis Headache Fatiguable weakness of proximal limb muscles Sarcoma Toe walking Mitochondrial depletion Lower limb muscle weakness Long face Reduced tendon reflexes Poor head control Easy fatigability Nasal speech Difficulty climbing stairs Reduced systolic function Difficulty running Aortic root aneurysm Lower limb amyotrophy Central hypoventilation Pes valgus Sinus tachycardia Abnormality of muscle fibers Breast carcinoma Back pain Leiomyosarcoma Nasolacrimal duct obstruction Complete atrioventricular canal defect Anomalous pulmonary venous return Night sweats Paraganglioma Carcinoid tumor Rhabdomyosarcoma Glioma Parathyroid adenoma Schwannoma Renal phosphate wasting Chronic myelogenous leukemia Lisch nodules Neoplasm of the central nervous system Gastrointestinal stroma tumor Fibular bowing Pheochromocytoma Aqueductal stenosis Clitoral hypertrophy Renal cell carcinoma Hypophosphatemia Pulmonary fibrosis Neurofibromas Tibial bowing Freckling Multiple cafe-au-lait spots Osteomalacia Severe vision loss Astrocytoma Overweight Increased reactive oxygen species production Gangrene Meningioma Neoplasm of the endocrine system Myocardial fibrosis Brain neoplasm Antenatal intracerebral hemorrhage



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