Hyperreflexia, and Hip dysplasia

Diseases related with Hyperreflexia and Hip dysplasia

In the following list you will find some of the most common rare diseases related to Hyperreflexia and Hip dysplasia that can help you solving undiagnosed cases.

Top matches:

Spastic tetraplegia, thin corpus callosum, and progressive microcephaly is an autosomal recessive neurodevelopmental disorder characterized by onset of those features and severely impaired global development in early infancy. Most patients are unable to achieve independent walking or speech; some patients have seizures (summary by Srour et al., 2015 and Heimer et al., 2015).

SPASTIC TETRAPLEGIA-THIN CORPUS CALLOSUM-PROGRESSIVE POSTNATAL MICROCEPHALY SYNDROME Is also known as spastic quadriplegia-thin corpus callosum-progressive postnatal microcephaly syndrome|asct1 deficiency

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about SPASTIC TETRAPLEGIA-THIN CORPUS CALLOSUM-PROGRESSIVE POSTNATAL MICROCEPHALY SYNDROME

GPIBD15 is an autosomal recessive disorder characterized by delayed psychomotor development, variable intellectual disability, hypotonia, early-onset seizures in most patients, and cerebellar atrophy, resulting in cerebellar signs including gait ataxia and dysarthria. The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis (summary by Nguyen et al., 2017).For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (OMIM ).

GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15 Is also known as developmental delay, epilepsy, cerebellar atrophy, and osteopenia

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15

Other less relevant matches:

Gerstmann-Straussler-Scheinker syndrome (GSSS) is a particular and rare form of human transmissible spongiform encephalopathy (TSE) due to a defective gene encoding the prion protein (PRNP gene) and marked by particular multicentric amyloid plaques in the brain.

GERSTMANN-STRAUSSLER-SCHEINKER SYNDROME Is also known as gerstmann-straussler-scheinker disease|prion dementia|subacute spongiform encephalopathy, gerstmann-straussler type|encephalopathy, subacute spongiform, gerstmann-straussler type|amyloidosis, cerebral, with spongiform encephalopathy|cerebellar ataxia, pro

Related symptoms:

  • Seizures
  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Spasticity


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about GERSTMANN-STRAUSSLER-SCHEINKER SYNDROME

Glycine encephalopathy with normal serum glycine is a severe metabolic disorder characterized by arthrogryposis multiplex congenita, joint hyperlaxity, lack of neonatal respiratory effort, axial hypotonia, hypertonia with pronounced clonus, and delayed psychomotor development. Some patients may have dysmorphic facial features and/or brain imaging abnormalities. Laboratory studies show increased CSF glycine and normal or only mildly increased serum glycine. Most patients die in infancy. The disorder is similar to, but distinct from, glycine encephalopathy (GCE ) due to mutations in genes encoding the glycine cleavage system (summary by Kurolap et al., 2016).

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Failure to thrive
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE

Mucopolysaccharidosis type VII is an autosomal recessive lysosomal storage disease characterized by the inability to degrade glucuronic acid-containing glycosaminoglycans. The phenotype is highly variable, ranging from severe lethal hydrops fetalis to mild forms with survival into adulthood. Most patients with the intermediate phenotype show hepatomegaly, skeletal anomalies, coarse facies, and variable degrees of mental impairment (Shipley et al., 1993). MPS VII was the first autosomal mucopolysaccharidosis for which chromosomal assignment was achieved.

MUCOPOLYSACCHARIDOSIS, TYPE VII; MPS7 Is also known as beta-glucuronidase deficiency|mps vii|sly syndrome|gusb deficiency

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE VII; MPS7

Intellectual disability-cataracts-calcified pinnae-myopathy syndrome is a rare, genetic intellectual disability syndrome characterized by macrocephaly, hypotonia, dysmorphic facial features (wide forehead, ptosis, downslanting palpebral fissures, enlarged and calcified external ears, large jaw), sparse body hair, tall stature, and intellectual disability. Hearing loss, insulin-resistant diabetes, and progressive distal muscle wasting (leading to joint contractures) have also been reported in adulthood. Rare manifestations include behavioral abnormalities (aggression and restlessness), hypothyroidism, cerebral calcification, ataxia, and peripheral neuropathy.

INTELLECTUAL DISABILITY-CATARACTS-CALCIFIED PINNAE-MYOPATHY SYNDROME Is also known as primrose syndrome|ossified ear cartilages with mental deficiency, muscle wasting, and bony changes

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about INTELLECTUAL DISABILITY-CATARACTS-CALCIFIED PINNAE-MYOPATHY SYNDROME

Alpha-mannosidosis is an autosomal recessive lysosomal storage disease characterized by mental retardation, coarse facial features, skeletal abnormalities, hearing impairment, neurologic motor problems, and immune deficiency. Expression of the disease varies considerably, and there is a wide spectrum of clinical findings and severity. Affected children are often normal at birth and during early development. They present in early childhood with delayed psychomotor development, delayed speech, and hearing loss. Additional features include large head with prominent forehead, rounded eyebrows, flattened nasal bridge, macroglossia, widely spaced teeth, dysostosis multiplex, and motor impairment (summary by Malm and Nilssen, 2008). Classification SystemsTwo classification systems have been used to describe the clinical presentation of alpha-mannosidosis. The earlier system delineated a more severe 'type I,' which shows infantile onset, rapid mental deterioration, hypotonia, splenomegaly, severe dysostosis multiplex, and severe recurrent infections, often resulting in death by age 8 years. Individuals with the less severe 'type II' show normal early development with later childhood development of mental retardation, hearing loss, coarse facies, neurologic deterioration, and survival well into adulthood (summary by Desnick et al., 1976 and Gotoda et al., 1998). A later classification system delineated 3 clinical types. Type 1 is the mildest form, with onset after age 10 years, without skeletal abnormalities and very slow progression. Type 2 is a moderate form, with onset before age 10 years, presence of skeletal abnormalities, and slow progression with development of ataxia by age 20 to 30 years. Type 3 is the severe form, with onset in early infancy, skeletal abnormalities, and obvious progression leading to early death from primary central nervous system involvement or myopathy. Most patients belong to clinical type 2 (summary by Malm and Nilssen, 2008). Despite the clinical heterogeneity of the disorder, there are no apparent genotype/phenotype correlations (Berg et al., 1999; Riise Stensland et al., 2012).

MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA Is also known as alpha-mannosidosis|lysosomal alpha-d-mannosidase deficiency|alpha-mannosidase b deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA

Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1; see this term) between the two extremes Hurler syndrome and Scheie syndrome (see these terms); it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development.

HURLER-SCHEIE SYNDROME Is also known as mucopolysaccharidosis type 1h/s|mucopolysaccharidosis type ih/s|mpsih/s|mps1-hs|mps1h/s

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Scoliosis


SOURCES: ORPHANET MENDELIAN

More info about HURLER-SCHEIE SYNDROME

Medium match MELAS

MELAS (Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke) syndrome is a rare progressive multisystemic disorder characterized by encephalomyopathy, lactic acidosis, and stroke-like episodes. Other features include endocrinopathy, heart disease, diabetes, hearing loss, and neurological and psychiatric manifestations.

MELAS Is also known as mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes|melas syndrome|mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MELAS

Top 5 symptoms//phenotypes associated to Hyperreflexia and Hip dysplasia

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Cognitive impairment Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Hyperreflexia and Hip dysplasia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Hypertelorism Gait disturbance Seizures Ataxia Abnormal facial shape Kyphosis Gait ataxia Spasticity Osteopenia Dysmetria Cerebellar atrophy Myopathy Neurodegeneration Areflexia Hepatomegaly Optic atrophy Abnormality of the skeletal system Ventriculomegaly Hypertonia Genu valgum Intellectual disability, mild Short neck Macrocephaly Short stature Scoliosis Anteverted nares Motor delay Dysarthria Nystagmus Hallucinations Confusion Sensorineural hearing impairment Skeletal dysplasia Coarse facial features Umbilical hernia Dysostosis multiplex Anxiety Broad forehead Pectus carinatum Mental deterioration Otitis media Corneal opacity Tetraplegia Talipes equinovarus Kyphoscoliosis Depressed nasal bridge Flexion contracture Hirsutism Ptosis Psychosis Macroglossia Hypertrichosis Gingival overgrowth Skeletal muscle atrophy Cataract Widely spaced teeth Clonus Hepatosplenomegaly Encephalopathy Poor speech Cardiomyopathy Babinski sign Cerebral atrophy Splenomegaly Depressivity Osteoporosis Hypoplasia of the corpus callosum Microcephaly Hernia Visual impairment Abnormality of the dentition Inguinal hernia Tremor Peripheral neuropathy Dysphagia Spastic tetraplegia Diarrhea Hydrocephalus

Rare Symptoms - Less than 30% cases

Opacification of the corneal stroma Cardiac arrest Metatarsus adductus Abnormal heart valve morphology Lumbar hyperlordosis Hyperactive deep tendon reflexes Thoracic kyphosis Generalized hirsutism Easy fatigability Thick eyebrow Carious teeth Abnormal nerve conduction velocity Vertigo Recurrent infections Abnormality of retinal pigmentation Platyspondyly Arrhythmia Severe short stature Respiratory tract infection Hypertrophic cardiomyopathy Mandibular prognathia Dyspnea Spinal cord compression Delusions Recurrent ear infections Pain Knee flexion contracture Schizophrenia Basal ganglia calcification Posterior scalloping of vertebral bodies Growth delay Constipation Muscle weakness Muscular hypotonia Headache Congestive heart failure Delayed skeletal maturation Abnormal form of the vertebral bodies Recurrent respiratory infections Neurological speech impairment Hypermetropia Retinal degeneration Respiratory insufficiency Type II diabetes mellitus Abnormality of the gingiva Increased intracranial pressure Abnormal cornea morphology Chronic otitis media Heart murmur Thickened skin Cerebral calcification Thoracolumbar kyphosis Midface retrusion J-shaped sella turcica Heparan sulfate excretion in urine Dermatan sulfate excretion in urine Decreased pulmonary function Micrognathia Anemia Hydrocele testis Intellectual disability, severe Behavioral abnormality Malar flattening Pes cavus Synophrys Hypogonadism Diabetes mellitus Autism Hypothyroidism Macrotia Conductive hearing impairment Developmental regression Nyctalopia Protruding ear Abdominal pain Congenital cataract Abnormal pyramidal sign Broad ribs Epicanthus Limb muscle weakness Hypertension Abnormality of the cerebral white matter Failure to thrive Weight loss Dysesthesia Inability to walk EEG abnormality Impaired smooth pursuit Delayed myelination Prominent forehead Aggressive behavior Aphasia Cerebellar hypoplasia Personality changes Retrognathia Lower limb muscle weakness Paresthesia Coma Progressive cerebellar ataxia Gliosis Myoclonus Hyperkinesis Mutism Myopia Truncal ataxia Limb ataxia Memory impairment Involuntary movements Delayed speech and language development Unsteady gait Generalized myoclonic seizures Abnormal cerebellum morphology Arthrogryposis multiplex congenita Dementia Hyporeflexia Visual loss Hip contracture Blindness Overlapping toe Cerebral visual impairment Status epilepticus Muscular hypotonia of the trunk Apraxia Elbow flexion contracture Generalized-onset seizure Abnormality of the foot Bradykinesia Cerebral cortical atrophy Apnea Dolichocephaly Abnormality of the pinna Anal atresia Dilated cardiomyopathy Progressive night blindness Fever Feeding difficulties Ichthyosis Cochlear malformation Lethargy Pruritus Ophthalmoplegia Abnormal mitochondrial shape Abnormality of the humeral epiphysis Peripheral axonal neuropathy Generalized tonic-clonic seizures Lactic acidosis Nausea Stroke Respiratory distress Fatigue Photophobia Proteinuria Malabsorption Erythema Myalgia Abnormality of the liver Abnormality of the styloid process of ulna Cochlear degeneration Nausea and vomiting Jaundice Feeding difficulties in infancy Attention deficit hyperactivity disorder Acidosis Rod-cone dystrophy Elevated serum creatine phosphokinase Renal insufficiency Dystonia Vomiting Delayed puberty Gastroesophageal reflux Paralytic ileus Contractures of the joints of the upper limbs Flared iliac wings Abnormality of the optic disc Aortic valve calcification Abnormality of the radius Corneal crystals Peripheral edema Wide cranial sutures Platybasia Carpal bone hypoplasia Abnormal diaphysis morphology Myelopathy Nasal obstruction Bilateral intracranial calcifications Shield chest Sagittal craniosynostosis Cor pulmonale Mitral valve calcification Morphological abnormality of the vestibule of the inner ear Dilation of lateral ventricles Sparse pubic hair Sparse axillary hair Communicating hydrocephalus Morphological abnormality of the inner ear Tracheal stenosis Abnormality of the ulna Hypoplastic iliac wing Diastasis recti Chronic sinusitis Obstructive sleep apnea Papilledema Blepharitis Hip subluxation Hernia of the abdominal wall Increased size of nasopharyngeal adenoids Dilated third ventricle Widely patent coronal suture Abnormality of glycosaminoglycan metabolism Abnormality of the lumbar spine Abnormality of the glenoid fossa Abnormality of cranial sutures Anterior scalloping of vertebral bodies Abnormality of femoral epiphysis Abnormal metaphyseal trabeculation Abnormality of the sella turcica Abnormality of the skull base Abnormality of lysosomal metabolism Short tubular bones of the hand Small abnormally formed scapulae Abnormality of the breast Exercise-induced muscle stiffness Delayed menarche Abnormality of the tonsils Limited shoulder movement Abnormality of mucopolysaccharide metabolism Abnormality of the acetabulum Thickened ribs Progressive flexion contractures Optic nerve compression Abnormal cochlea morphology Homonymous hemianopia Abnormality of acid-base homeostasis Episodic quadriplegia Frontal hirsutism Cervical instability Urinary glycosaminoglycan excretion Polymicrogyria Ventricular hypertrophy Nephropathy Hyperthyroidism Episodic vomiting Motor polyneuropathy Drowsiness Distal arthrogryposis Pulmonary embolism Primary adrenal insufficiency Abnormality of immune system physiology Psychomotor deterioration Muscle fiber atrophy Thyroiditis Writer's cramp Rhabdomyolysis Persistence of primary teeth Protuberant abdomen Atopic dermatitis Leber optic atrophy Glomerulopathy Spontaneous hematomas Progressive sensorineural hearing impairment Vertebral fusion Multiple lipomas Gastroparesis Prolonged QT interval Visual field defect Hyperkalemia Amaurosis fugax Dysphasia Auditory hallucinations Abnormality of the renal tubule Hashimoto thyroiditis Bundle branch block Stroke-like episode Aortic dissection Renal tubular dysfunction Tubulointerstitial nephritis Cardiorespiratory arrest Visual hallucinations Increased CSF lactate Transient ischemic attack Posterior subcapsular cataract Wolff-Parkinson-White syndrome Cerebral ischemia Reduced consciousness/confusion Gait imbalance Anterior hypopituitarism Progressive external ophthalmoplegia Hemianopia Seborrheic dermatitis Left ventricular failure Mitochondrial myopathy Hypoparathyroidism Heart block Xerostomia Speech apraxia Retinal pigment epithelial atrophy Vitiligo Abnormality of peripheral nerve conduction Proximal tubulopathy Neonatal hypoglycemia Abnormality of visual evoked potentials Ileus Vestibular dysfunction Adrenal insufficiency Polyneuropathy Atrial fibrillation Reduced tendon reflexes External ophthalmoplegia Pancreatitis Macular degeneration Purpura Exercise intolerance Type I diabetes mellitus Hypogonadotrophic hypogonadism EMG abnormality Anorexia Left ventricular hypertrophy Decreased body weight Hemiparesis Facial diplegia Ischemic stroke Pulmonary arterial hypertension Nephrotic syndrome Bilateral sensorineural hearing impairment Abnormality of the cardiovascular system Pigmentary retinopathy Amenorrhea Specific learning disability Increased serum lactate Migraine Sensory impairment Sudden cardiac death Muscle cramps Postural instability Ragged-red muscle fibers Hypopigmented skin patches Abnormality of neuronal migration Hyponatremia Renal Fanconi syndrome Focal segmental glomerulosclerosis Tubulointerstitial abnormality Hemiplegia/hemiparesis Psychotic episodes Mask-like facies Bifid scrotum Abnormality of the cerebellar vermis Aplasia/Hypoplasia of the cerebellum Crohn's disease Intestinal obstruction Hemeralopia Ophthalmoparesis Abnormal macular morphology Edema of the dorsum of hands Abnormality of mitochondrial metabolism Aortic aneurysm Hemiplegia Bilateral ptosis Hypercalciuria Decreased nerve conduction velocity Spotty hypopigmentation Paronychia Cachexia Atrioventricular block Abnormal mitochondrial morphology Chronic kidney disease Growth abnormality Goiter Peripheral visual field loss Optic disc pallor Rhinitis Hypoplasia of the odontoid process Anterior beaking of lower thoracic vertebrae Proximal tapering of metacarpals Anterior beaking of lumbar vertebrae Pseudoarthrosis Snoring Narrow greater sacrosciatic notches Thoracic kyphoscoliosis Prominent sternum Acetabular dysplasia Pulmonary insufficiency Nonimmune hydrops fetalis Thoracolumbar scoliosis Mild short stature Cryptorchidism Spondyloepiphyseal dysplasia Pleural effusion Pterygium Recurrent upper respiratory tract infections Hydrops fetalis Broad-based gait Webbed neck Ascites Facial asymmetry Postnatal growth retardation Hyperlordosis Intellectual disability, moderate Neoplasm Downslanted palpebral fissures Polyhydramnios Sparse scalp hair Truncal obesity Anonychia Bilateral cryptorchidism Melanocytic nevus Self-injurious behavior Abnormal palate morphology Plagiocephaly Osteolysis Spastic paraparesis Paraparesis Hypergonadotropic hypogonadism Gynecomastia Thick lower lip vermilion Microphthalmia Nevus Hypoplasia of the maxilla Downturned corners of mouth Short distal phalanx of finger Distal amyotrophy Narrow chest Prominent nasal bridge Deeply set eye Narrow mouth Brachycephaly Agenesis of corpus callosum Pectus excavatum Abnormality of the nervous system Dilatation Ankle clonus Rigidity Akinesia Apathy Slurred speech Muscle stiffness Chronic diarrhea Clumsiness Abnormality of extrapyramidal motor function Brain atrophy Parkinsonism Abnormality of eye movement Paralysis Abnormality of the eye Difficulty walking Athetosis Brisk reflexes Infantile muscular hypotonia Narrow forehead Wide nasal bridge Decreased light- and dark-adapted electroretinogram amplitude Progressive microcephaly Stereotypy Hypsarrhythmia Febrile seizures Irritability Hyperactivity Absent speech Emotional lability Alzheimer disease Short nose Deep philtrum Edema Nonketotic hyperglycinemia Fetal distress Hyperglycinemia Exaggerated startle response Hand clenching Genu recurvatum Weak cry Myopathic facies Oral-pharyngeal dysphagia Sparse eyebrow Trigonocephaly Long eyelashes Global brain atrophy Esotropia Hip dislocation Joint laxity Respiratory failure Low-set ears Cerebral amyloid angiopathy Perseveration Supranuclear gaze palsy Hypomimic face Lewy bodies Insomnia Neurofibrillary tangles Mixed hearing impairment Sparse body hair Spinal canal stenosis Abnormality of the ilium Joint stiffness Arthralgia Proptosis Hyperkeratosis Glaucoma Spinocerebellar tract disease in lower limbs Flattened moderately deformed vertebrae Synovial hypertrophy Progressive joint destruction Abnormality of dental structure Antineutrophil antibody positivity Abnormality of joint mobility Hypoplastic inferior ilia Camptodactyly of finger Generalized abnormality of skin Increased hepatic glycogen content Increased vertebral height Spondylolysis Oligosacchariduria Synostosis of joints Cerebral dysmyelination Retinal thinning Long ear Cranial hyperostosis Vacuolated lymphocytes Abnormal echocardiogram Craniosynostosis Astigmatism Abnormality of the rib cage Congenital hip dislocation Arthropathy Exertional dyspnea Restrictive ventilatory defect Multiple joint contractures Toe walking Abnormality of dental morphology Back pain Coarse hair Arnold-Chiari malformation Abnormality of the metacarpal bones Abnormality of dental enamel Coxa valga Short ribs Wide nose Aortic valve stenosis Abnormal vertebral morphology Lower limb spasticity Recurrent otitis media Abnormality of the ribs Cardiomegaly Microdontia Progressive visual loss Limitation of joint mobility Asthma Sleep disturbance Thick vermilion border Synovitis Craniofacial hyperostosis Congenital hypothyroidism Abnormal glucose tolerance Immunodeficiency Frontal bossing Strabismus Superiorly displaced ears Calcification of the auricular cartilage Increased size of the mandible Absent facial hair Torus palatinus Motor tics Basilar impression Absent axillary hair Posterior polar cataract Narrow iliac wings Highly arched eyebrow Ectopic calcification Bone cyst Generalized osteoporosis Tics Dystrophic fingernails Broad face Progressive gait ataxia Poor coordination Irregular vertebral endplates Insulin-resistant diabetes mellitus Restlessness Striae distensae Arthritis Dental malocclusion Spondylolisthesis Open bite Abnormality of the helix Reduced ejection fraction Patellar dislocation Severe sensorineural hearing impairment Aseptic necrosis Limb dystonia Bronchitis Thickened calvaria Abnormality of the sternum Femoral bowing Neurodevelopmental delay Bowel incontinence Bowing of the legs Decreased antibody level in blood Flat occiput Prominent supraorbital ridges Recurrent bacterial infections Narrow palate Low anterior hairline Spastic gait Amblyopia Tall stature Bowing of the long bones Progressive neurologic deterioration Depressed nasal ridge Pancytopenia Peripheral demyelination Prominent ear helix


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