Ataxia, and Myocardial infarction

Diseases related with Ataxia and Myocardial infarction

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


Top matches:

Medium match HOMOCYSTINURIA DUE TO METHYLENE TETRAHYDROFOLATE REDUCTASE DEFICIENCY


Homocystinuria due to methylene tetrahydrofolate reductase (MTHFR) deficiency is a metabolic disorder characterised by neurological manifestations.

HOMOCYSTINURIA DUE TO METHYLENE TETRAHYDROFOLATE REDUCTASE DEFICIENCY Is also known as methylenetetrahydrofolate reductase deficiency|mthfr deficiency|methylene tetrahydrofolate reductase deficiency

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about HOMOCYSTINURIA DUE TO METHYLENE TETRAHYDROFOLATE REDUCTASE DEFICIENCY

Medium match CADASIL


CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is a hereditary cerebrovascular disorder characterized by mid-adult onset of recurrent subcortical ischemic stroke and cognitive impairment progressing to dementia in addition to migraines with aura and mood disturbances seen in about a third of patients.

CADASIL Is also known as dementia, hereditary multi-infarct type|cadasil|cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy|casil|hereditary multi-infarct dementia

Related symptoms:

  • Seizures
  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about CADASIL

Medium match CEREBROTENDINOUS XANTHOMATOSIS


Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis (see this term) characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction.

CEREBROTENDINOUS XANTHOMATOSIS Is also known as cerebral cholesterinosis|sterol 27-hydroxylase deficiency|ctx

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Nystagmus
  • Muscle weakness


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CEREBROTENDINOUS XANTHOMATOSIS

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Other less relevant matches:

Medium match BEHÇET DISEASE


Behçet's disease (BD) is a chronic, relapsing, multisystemic vasculitis characterized by mucocutaneous lesions, as well as articular, vascular, ocular and central nervous system manifestations.

BEHÇET DISEASE Is also known as bd|behcet disease

Related symptoms:

  • Seizures
  • Ataxia
  • Neoplasm
  • Pain
  • Cataract


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about BEHÇET DISEASE

Medium match AUTOSOMAL DOMINANT EMERY-DREIFUSS MUSCULAR DYSTROPHY


EDMD is characterized by myopathic changes in certain skeletal muscles and early contractures at the neck, elbows, and Achilles tendons, as well as cardiac conduction defects. 'Classic' Emery-Dreifuss muscular dystrophy (EDMD1 ) is an X-linked disorder caused by mutation in the emerin gene (EMD ) on Xq28 (Emery, 1989).For a discussion of genetic heterogeneity of EDMD, see {310300}.

AUTOSOMAL DOMINANT EMERY-DREIFUSS MUSCULAR DYSTROPHY Is also known as scapuloilioperoneal atrophy with cardiopathy|emd2|muscular dystrophy, limb-girdle, type 1b, formerly|emery-dreifuss muscular dystrophy, autosomal dominant|edmd2|cardiomyopathy, dilated, with quadriceps myopathy|muscular dystrophy, proximal, type 1b, forme

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Muscular hypotonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT EMERY-DREIFUSS MUSCULAR DYSTROPHY

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 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 ALZHEIMER DISEASE 2; AD2


A degenerative disease of the brain characterized by the insidious onset of dementia. Impairment of memory, judgment, attention span, and problem solving skills are followed by severe apraxia and a global loss of cognitive abilities. The condition primarily occurs after age 60, and is marked pathologically by severe cortical atrophy and the triad of senile plaques, neurofibrillary tangles, and neuropil threads. [HPO:probinson]

ALZHEIMER DISEASE 2; AD2 Is also known as alzheimer disease associated with apoe4|alzheimer disease 2, late-onset

Related symptoms:

  • Hypertension
  • Dementia
  • Diabetes mellitus
  • Stroke
  • Parkinsonism


SOURCES: OMIM MESH MENDELIAN

More info about ALZHEIMER DISEASE 2; AD2

Low match MACROTHROMBOCYTOPENIA AND GRANULOCYTE INCLUSIONS WITH OR WITHOUT NEPHRITIS OR SENSORINEURAL HEARING LOSS; MATINS


Macrothrombocytopenia with or without granulocyte inclusions, nephritis, or sensorineural hearing loss was previously thought to be comprised of 4 distinct entities with overlapping features: Fechtner syndrome, May-Hegglin anomaly, Epstein syndrome, and Sebastian syndrome. Fechtner syndrome was characterized by the triad of thrombocytopenia, giant platelets, and Dohle body-like inclusions in peripheral blood leukocytes, with the additional Alport syndrome (OMIM )-like features of nephritis, hearing loss, and eye abnormalities, predominantly cataracts (Peterson et al., 1985). May-Hegglin anomaly was characterized by the triad of thrombocytopenia, giant platelets, and Dohle body-like inclusions in peripheral blood leukocytes. Epstein syndrome was characterized by thrombocytopenia, deafness, and nephritis, and lacked leukocyte inclusion bodies on classic staining of peripheral blood smears. Sebastian syndrome was similar to May-Hegglin anomaly, but had a different ultrastructural appearance of the leukocyte inclusions. Seri et al. (2003) suggested that these 4 disorders were not distinct entities, but rather represented a single disorder with a continuous clinical spectrum because variable phenotypic expression is observed not only between families but also within families having the same MYH9 mutation. In addition, Balduini et al. (2011) noted that all patients present leukocyte inclusion bodies, although of variable size. Seri et al. (2003) proposed the term 'MYH9-related disease' for the disorder; however, an isolated form of nonsyndromic deafness (DFNA17 ) is also caused by mutation in the MYH9 gene.

MACROTHROMBOCYTOPENIA AND GRANULOCYTE INCLUSIONS WITH OR WITHOUT NEPHRITIS OR SENSORINEURAL HEARING LOSS; MATINS Is also known as may-hegglin anomaly|apsm, formerly|macrothrombocytopenia, nephritis, and deafness|fechtner syndrome|alport syndrome with macrothrombocytopenia, formerly|macrothrombocytopenia with dispersed leukocytic inclusions|bleeding disorder, platelet-type, 6|macroth

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Cataract
  • Gait disturbance
  • Renal insufficiency


SOURCES: ORPHANET OMIM MENDELIAN

More info about MACROTHROMBOCYTOPENIA AND GRANULOCYTE INCLUSIONS WITH OR WITHOUT NEPHRITIS OR SENSORINEURAL HEARING LOSS; MATINS

Low match SNEDDON SYNDROME


Sneddon's syndrome (SS) is a rare non-inflammatory thrombotic vasculopathy characterized by the combination of cerebrovascular disease with livedo racemosa.

SNEDDON SYNDROME Is also known as livedo reticularis-cerebrovascular accident syndrome|livedo racemosa-cerebrovascular accident syndrome|livedo reticularis and cerebrovascular accidents|ehrmann-sneddon syndrome

Related symptoms:

  • Seizures
  • Muscle weakness
  • Pain
  • Visual impairment
  • Motor delay


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SNEDDON SYNDROME

Top 5 symptoms//phenotypes associated to Ataxia and Myocardial infarction

Symptoms // Phenotype % cases
Behavioral abnormality Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Stroke Common - Between 50% and 80% cases
Gait disturbance Common - Between 50% and 80% cases
Hemiparesis Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Ataxia and Myocardial infarction. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Muscle weakness Developmental regression Cataract Dysarthria Intellectual disability Memory impairment Cerebral ischemia Dementia Depressivity Joint stiffness Tremor Hyperreflexia Hypertension Pain Hearing impairment Vertigo Scoliosis Generalized hypotonia Spasticity Attention deficit hyperactivity disorder Facial palsy Intellectual disability, mild Myopathy Hypertonia Headache Muscular hypotonia Ptosis Cerebral cortical atrophy EEG abnormality Peripheral neuropathy Abnormality of the eye Encephalopathy Feeding difficulties Congestive heart failure Confusion Kyphosis Pectus excavatum Hypertrophic cardiomyopathy Migraine Failure to thrive Abnormality of extrapyramidal motor function Cerebral atrophy Elevated serum creatine phosphokinase Renal insufficiency Delayed speech and language development Neurological speech impairment Cognitive impairment Visual impairment Sensorineural hearing impairment Malabsorption Global developmental delay Scarring Irritability

Rare Symptoms - Less than 30% cases


Falls Arterial stenosis Hyperlordosis Splenomegaly Ichthyosis Blindness Gastrointestinal hemorrhage Sudden cardiac death Obesity Vocal cord paralysis Short stature Cholelithiasis Growth delay Micrognathia Strabismus Cryptorchidism Depressed nasal bridge Neoplasm Glaucoma Midface retrusion Nausea and vomiting Mitral regurgitation Vasculitis Pleural effusion Chest pain Abnormal myocardium morphology Endocarditis Myopia Erythema Alopecia Flexion contracture Myalgia High palate Arthralgia Dyspnea Wide nasal bridge Cardiomyopathy Abdominal pain Epicanthus Abnormal heart morphology Macrocephaly Cardiomegaly Thick vermilion border Sleep disturbance Proteinuria Diabetes mellitus Increased nuchal translucency Full cheeks Vesicoureteral reflux Dental malocclusion Abnormality of the cardiovascular system Narrow forehead Coarctation of aorta Paralysis Open mouth Cutis laxa Redundant skin Subvalvular aortic stenosis Failure to thrive in infancy Chronic otitis media Heart murmur Obsessive-compulsive behavior Open bite Arnold-Chiari type I malformation Hypoplasia of the zygomatic bone Bruising susceptibility Genu valgum Ventricular septal defect Constipation Atrial septal defect Abnormality of the dentition Short nose Long philtrum Malar flattening Thrombocytopenia Hernia Abnormality of refraction Inguinal hernia Delayed skeletal maturation Clinodactyly of the 5th finger Autism Pulmonic stenosis High forehead Gastroesophageal reflux Macrotia Nephrolithiasis Osteopenia Umbilical hernia Low-set, posteriorly rotated ears Abnormality of the kidney Feeding difficulties in infancy Abnormal cardiac septum morphology Nephritis Abnormality of vision Coarse facial features Pallor Aggressive behavior Personality changes Hemiplegia Paraplegia Congenital cataract Fever Abnormality of the cerebral white matter Spastic paraplegia Abnormal pyramidal sign Pseudobulbar paralysis Hallucinations Abnormality of nervous system morphology Aphasia Osteoporosis Cranial nerve paralysis Diarrhea Mental deterioration Delusions Respiratory insufficiency Nystagmus Atherosclerosis Transient ischemic attack Truncal ataxia Incoordination Dysphagia Poor suck Paresthesia Microcephaly Parkinsonism Lower limb muscle weakness Dysmetria Vomiting Coma Waddling gait Visual loss Limb muscle weakness Retinal arteriolar tortuosity Hypsarrhythmia Amaurosis fugax Progressive neurologic deterioration Proximal muscle weakness Intellectual disability, severe Everted lower lip vermilion Smooth philtrum Hyperactivity Anxiety Joint laxity Oral cleft Pes planus Wide mouth Small for gestational age Joint hyperflexibility Carious teeth Corneal opacity Broad forehead Cleft lip Intellectual disability, moderate Protruding ear Autistic behavior Postural instability Craniosynostosis Blepharophimosis Hepatitis Hypodontia Pointed chin Gingival overgrowth Aortic valve stenosis Hoarse voice Narrow face Increased bone mineral density Increased body weight Hypogonadotrophic hypogonadism Recurrent urinary tract infections Hemivertebrae Nephrocalcinosis Abnormality of dental enamel Abnormality of the fingernails Spina bifida occulta Abnormal dermatoglyphics Amblyopia Involuntary movements Broad nasal tip Hypotelorism Macroglossia Esotropia Otitis media Renal agenesis Microdontia Tetralogy of Fallot Mitral valve prolapse Abnormal form of the vertebral bodies Hypoplasia of penis Type II diabetes mellitus Ventricular hypertrophy Renal hypoplasia Small nail Thick lower lip vermilion Recurrent otitis media Dehydration Oral aversion Kyphoscoliosis Deep palmar crease Abnormal hair pattern Dystrophic fingernails Abnormality of the optic nerve Abnormality of the testis Delayed CNS myelination Severe global developmental delay Gastrointestinal dysmotility Woolly hair Abnormal mitral valve morphology Slow-growing hair Thickened helices Apnea Abnormal aortic valve morphology Hyperextensibility of the finger joints Abnormality of the pulmonary artery Thick upper lip vermilion Short attention span Abnormality of hair texture Poor appetite Biparietal narrowing Curly hair Generalized hyperpigmentation Submucous cleft hard palate Anal stenosis Underdeveloped supraorbital ridges Atopic dermatitis Abnormality of the gastrointestinal tract Alopecia of scalp Abnormal eyelash morphology Enlarged kidney Absent eyelashes Lethargy Premature skin wrinkling Abnormality of the ulna Excessive wrinkled skin Cavernous hemangioma Hypothyroidism Abnormal facial shape Inappropriate crying Abnormality of the auditory canal Multiple palmar creases Eyelid fasciculation Multiple plantar creases Widely spaced teeth Cleft palate Morphological abnormality of the gastrointestinal tract Intrauterine growth retardation Respiratory distress Absent speech Patent ductus arteriosus Cerebellar hypoplasia Recurrent respiratory infections Micropenis Cutaneous T-cell lymphoma Puberty and gonadal disorders Multiple lentigines Patchy alopecia Sparse or absent eyelashes Abnormality of the nervous system Frontal balding Anterior creases of earlobe Abnormality of the optic disc Abnormal tricuspid valve morphology Optic nerve dysplasia Abnormal location of ears Hypoplasia of the frontal lobes Generalized ichthyosis Laryngeal cleft Functional abnormality of the gastrointestinal tract Tongue thrusting Hyperkeratosis pilaris Abnormality of the hairline Progressive hearing impairment Polycystic ovaries Bicuspid aortic valve Early onset of sexual maturation Abnormality of the diencephalon Medial flaring of the eyebrow Elfin facies Bilateral vocal cord paralysis Thyroid hemiagenesis Nystagmus-induced head nodding Overfriendliness Dyssynergia Paroxysmal bursts of laughter Stellate iris Functional abnormality of male internal genitalia Descending aorta hypoplasia Vocal cord dysfunction Atrophy/Degeneration involving the corticospinal tracts Apraxia Alzheimer disease Abnormal carotid artery morphology Myxomatous mitral valve degeneration Long-tract signs Food intolerance Nocturia Synostosis of joints Abnormality of the bladder Renal artery stenosis Coronary artery stenosis Hyperacusis Pelvic kidney Infantile hypercalcemia Unilateral renal hypoplasia Abnormality of the gastric mucosa Renovascular hypertension Abnormal social behavior Flat cornea Supravalvular aortic stenosis Impaired visuospatial constructive cognition Calcification of the aorta Neurofibrillary tangles Agnosia Aortic arch aneurysm Thrombocytosis Nephropathy Chorea Systemic lupus erythematosus Intracranial hemorrhage Cutis marmorata Visual field defect Atrophic scars Acrocyanosis Moderate proteinuria Arteriovenous malformation Peripheral arterial stenosis Facial paralysis Hemianopia Thromboembolic stroke Vascular skin abnormality Antiphospholipid antibody positivity Motor delay Leukocyte inclusion bodies Recurrent infections Microscopic hematuria Stage 5 chronic kidney disease Hematuria Bilateral sensorineural hearing impairment Epistaxis Spastic gait Menorrhagia Prolonged bleeding time Single umbilical artery Bifid clitoris Ecchymosis Impaired platelet aggregation Abnormal thrombosis Macrothrombocytopenia Giant platelets Bladder exstrophy Exstrophy Obsessive-compulsive trait Overriding aorta Sacral dimple High hypermetropia Glucose intolerance Polyuria Loss of consciousness Hallux valgus Premature graying of hair Vertebral segmentation defect Celiac disease Prematurely aged appearance Hypoplastic toenails Facial cleft Restlessness Insomnia Megalocornea Abnormality of lipid metabolism Posterior embryotoxon Nevus flammeus Tracheoesophageal fistula Abnormality of dental morphology Poor coordination Abnormal heart valve morphology Ischemic stroke Infantile muscular hypotonia Schizophrenia Arnold-Chiari malformation Reduced bone mineral density Adducted thumb Abnormality of pelvic girdle bone morphology Dysphonia Unilateral renal agenesis Hypercalciuria Hypercalcemia Radioulnar synostosis Precocious puberty Portal hypertension Abnormality of the voice Hypoplasia of the corpus callosum Soft skin Pulmonary artery stenosis Tubulointerstitial abnormality Abnormal glucose tolerance Peptic ulcer Periorbital edema Rectal prolapse Dysgraphia Phonophobia Parathyroid hyperplasia Urethral stenosis Retinal vascular tortuosity Bladder diverticulum Thyroid hypoplasia Abnormal endocardium morphology Aplasia/Hypoplasia of the iris Renal duplication Colonic diverticula Vascular tortuosity Abnormality of the ankles Cystic renal dysplasia Lacrimation abnormality Abnormality of the vasculature Large earlobe Patellar dislocation Multiple renal cysts Down-sloping shoulders Blue irides Chronic constipation Right ventricular hypertrophy Tubulointerstitial nephritis Abnormality of the neck Abnormal renal morphology Abnormality of the cerebral vasculature Enuresis Villous atrophy Dyslexia Gait imbalance Periorbital fullness Decreased plasma carnitine Peripheral pulmonary artery stenosis Multiple cafe-au-lait spots Bilateral ptosis Long palpebral fissure Focal sensory seizure Panuveitis Genital ulcers Epididymitis Decreased level of D-mannose in urine Hypopyon Subcortical dementia Diffuse leukoencephalopathy Orchitis Subcutaneous hemorrhage Skeletal muscle atrophy Mania Perseveration Migraine with aura Stroke-like episode Superficial thrombophlebitis Retrobulbar optic neuritis Pes cavus Thrombophlebitis Recurrent aphthous stomatitis Stomatitis Alopecia areata Abulia Oral ulcer Pleuritis Erythema nodosum Iritis Immunologic hypersensitivity Chorioretinitis Optic neuritis Anterior uveitis Posterior uveitis Iridocyclitis Increased inflammatory response Arrhythmia Difficulty walking Recurrent subcortical infarcts Spinal muscular atrophy EMG: myopathic abnormalities Ventricular arrhythmia Atrioventricular block Back pain Lipodystrophy Limb-girdle muscular dystrophy Congenital muscular dystrophy Respiratory insufficiency due to muscle weakness Myotonia Toe walking Calf muscle hypertrophy Mildly elevated creatine phosphokinase Difficulty climbing stairs Spinal rigidity Reduced tendon reflexes Scapular winging Rigidity Impaired pain sensation Neonatal hypotonia Varicose veins Muscular dystrophy Dilated cardiomyopathy Abnormality of visual evoked potentials Optic neuropathy Syncope Knee flexion contracture Atrial fibrillation Hypertriglyceridemia Palpitations Frequent falls Progressive muscle weakness Bradycardia Elbow flexion contracture Arterial thrombosis Myositis Ankle contracture Tuberous xanthoma Abnormality of cholesterol metabolism Frontal lobe dementia EMG: axonal abnormality Palatal myoclonus Abnormality of the dentate nucleus EEG with generalized slow activity Abnormality of central somatosensory evoked potentials Juvenile cataract Abnormal cerebellum morphology Fatigue Neurodegeneration Dilatation Weight loss Reduced visual acuity Tendon xanthomatosis Giant cell hepatitis Photophobia Progressive cerebellar ataxia Intention tremor Cholestasis Chronic diarrhea Cerebral calcification Joint dislocation Hypercholesterolemia Agitation Xanthelasma Abnormality of the periventricular white matter Frontotemporal dementia Angina pectoris Xanthomatosis Precocious atherosclerosis Decreased HDL cholesterol concentration Myelopathy Jaundice Arthritis Raynaud phenomenon Keratoconjunctivitis sicca Rheumatoid arthritis Acne Inflammation of the large intestine Epiphora Blurred vision Glomerulopathy Pericarditis Encephalitis Hemoptysis Pulmonary embolism Aseptic necrosis Uveitis Pustule Pulmonary infiltrates Gangrene Nonarteritic anterior ischemic optic neuropathy Increased intracranial pressure Myoclonus Lymphadenopathy Dystonia Retinopathy Autoimmunity Cough Papule Cerebellar atrophy Abnormal blistering of the skin Venous thrombosis Subdural hemorrhage Subcutaneous nodule Anorexia Meningitis Scintillating scotoma Pancreatitis Aortic regurgitation Rimmed vacuoles Sprengel anomaly Abnormality of the sternum Growth hormone deficiency Hyperhomocystinemia Nevus Homocystinuria Intestinal malrotation Premature birth Webbed neck Progressive visual loss Abdominal distention Thromboembolism Coronary artery atherosclerosis Low posterior hairline Fine hair Inflammatory abnormality of the skin Paraparesis Abnormal bleeding Palmoplantar keratoderma Thickened skin Astigmatism Pruritus Nail dystrophy Dolichocephaly Hypermetropia Hypotrichosis Babinski sign Dry skin High, narrow palate Peripheral axonal neuropathy Abnormality of skin pigmentation Long face Joint hypermobility Bulbous nose Retinal dystrophy Hepatic steatosis Decreased body weight Cafe-au-lait spot Pectus carinatum Epileptic encephalopathy Optic disc pallor Sparse eyebrow Scaling skin Ectropion Melanocytic nevus Cubitus valgus Absent eyebrow Deep philtrum Large for gestational age Malnutrition Hydroureter Aplasia/Hypoplasia of the eyebrow Neurodevelopmental delay Neurofibromas Infantile spasms Brittle hair Hyperextensible skin Lymphedema Oculomotor apraxia Hyperpigmentation of the skin Cerebral visual impairment Aspiration Abnormality of the nail Narrow palate Sparse eyelashes Abnormal palate morphology Relative macrocephaly Aplasia/Hypoplasia of the corpus callosum Hemangioma Sleep apnea Abnormality of the genitourinary system Delayed gross motor development Optic nerve hypoplasia Palmoplantar hyperkeratosis Leukemia Hypoglycemia Heart block Decreased cervical spine flexion due to contractures of posterior cervical muscles Peroneal muscle weakness Ventricular escape rhythm Scapuloperoneal amyotrophy Proximal upper limb amyotrophy Type 1 muscle fiber atrophy Proximal spinal muscular atrophy Restricted neck movement due to contractures Limb-girdle muscle atrophy Absent muscle fiber emerin Bulbar palsy Scotoma Hypertelorism Cerebral hemorrhage Low-set ears Left anterior fascicular block Proximal muscle weakness in upper limbs Hepatomegaly Achilles tendon contracture Progressive proximal muscle weakness Amyloidosis Proximal amyotrophy Limb-girdle muscle weakness Distal lower limb amyotrophy Shoulder girdle muscle weakness Distal lower limb muscle weakness Proximal lower limb amyotrophy Proximal muscle weakness in lower limbs Supraventricular arrhythmia Abnormal atrioventricular conduction Increased LDL cholesterol concentration Atrial arrhythmia Shoulder girdle muscle atrophy Peroneal muscle atrophy Apathy Abnormal electroretinogram Sparse hair Polyhydramnios Posteriorly rotated ears Prominent forehead Hyperhidrosis Hyperkeratosis Tetraplegia Proptosis Sensory neuropathy Urinary incontinence Inability to walk Nausea Abnormality of eye movement Hydronephrosis Telecanthus Generalized tonic-clonic seizures Respiratory tract infection Brain atrophy Abnormality of the skin Leukoencephalopathy Hydrocephalus Optic atrophy Downslanted palpebral fissures Frontal bossing Ventriculomegaly Anteverted nares Short neck Shock Peripheral demyelination Edema Spastic tetraparesis Recurrent pneumonia Abnormality of cardiovascular system morphology Tetraparesis Psychosis Bradykinesia Lupus anticoagulant



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