Fever, and Cerebellar hypoplasia

Diseases related with Fever and Cerebellar hypoplasia

In the following list you will find some of the most common rare diseases related to Fever and Cerebellar hypoplasia that can help you solving undiagnosed cases.

Top matches:

Congenital intrauterine infection-like syndrome is characterised by the presence of microcephaly and intracranial calcifications at birth accompanied by neurological delay, seizures and a clinical course similar to that seen in patients after intrauterine infection with Toxoplasma gondii, Rubella, Cytomegalovirus, Herpes simplex (so-called TORCH syndrome), or other agents, despite repeated tests revealing the absence of any known infectious agent.

CONGENITAL INTRAUTERINE INFECTION-LIKE SYNDROME Is also known as baraitser-reardon syndrome|bilateral band-like calcification with polymicrogyria|blc-pmg|blcpmg|band-like calcification with simplified gyration and polymicrogyria|microcephaly-intracranial calcification-intellectual disability syndrome|pseudo-torch syndr

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL INTRAUTERINE INFECTION-LIKE SYNDROME

Microcephalic osteodysplastic primordial dwarfism (MOPD) types 1 and 3 are characterized by intrauterine and postnatal growth retardation, microcephaly, facial dysmorphism, skeletal dysplasia, low-birth weight and brain anomalies. Although MOPD types 1 and 3 were originally described as two separate entities on the basis of radiological criteria (notably small differences in pelvic and long bone structure), later reports confirmed that the two forms represent different modes of expression of the same syndrome.

MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM TYPES I AND III Is also known as microcephalic osteodysplastic primordial dwarfism, taybi-linder type|low-birth-weight dwarfism with skeletal dysplasia|mopd i|mopd types i and iii|osteodysplastic primordial dwarfism, type i|primordial microcephalic dwarfism, crachami type|mopd|cephaloske

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM TYPES I AND III

Other less relevant matches:

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

Smith-Lemli-Opitz syndrome (SLOS) is characterized by multiple congenital anomalies, intellectual deficit, and behavioral problems.

SMITH-LEMLI-OPITZ SYNDROME Is also known as rutledge lethal multiple congenital anomaly syndrome|slos|lethal acrodysgenital syndrome|rsh syndrome|slo syndrome|7-dehydrocholesterol reductase deficiency|polydactyly, sex reversal, renal hypoplasia, and unilobar lung

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SMITH-LEMLI-OPITZ SYNDROME

Mowat-Wilson syndrome is an autosomal dominant complex developmental disorder; individuals with functional null mutations present with mental retardation, delayed motor development, epilepsy, and a wide spectrum of clinically heterogeneous features suggestive of neurocristopathies at the cephalic, cardiac, and vagal levels. Mowat-Wilson syndrome has many clinical features in common with Goldberg-Shprintzen syndrome (OMIM ) but the 2 disorders are genetically distinct (Mowat et al., 2003). Goldberg-Shprintzen syndrome is caused by mutation in the KIAA1279 gene (OMIM ) located on 10q.

MOWAT-WILSON SYNDROME; MOWS Is also known as microcephaly, mental retardation, and distinct facial features, with or without hirschsprung disease|hirschsprung disease-mental retardation syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MOWAT-WILSON SYNDROME; MOWS

Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome is a rare, syndromic intellectual disability primarily characterized by moderate to severe intellectual disability, true-to-relative microcephaly and brain abnormalities including a thin corpus callosum, cerebellar hypoplasia, cerebral white matter hypoplasia and multi-focal hyperintensity of cerebral white matter on MRI. Obesity and distinctive craniofacial dysmorphism (including brachycephaly, round face, straight eyebrows, synophrys, hypertelorism, epicanthus, wide and depressed nasal bridge, protruding ears with uplifted lobe, downslanting corners of the mouth) are additional features.

INTELLECTUAL DISABILITY-OBESITY-BRAIN MALFORMATIONS-FACIAL DYSMORPHISM SYNDROME Is also known as autosomal recessive intellectual disability due to trappc9 deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Microcephaly
  • Hypertelorism
  • Abnormal facial shape


SOURCES: ORPHANET MENDELIAN

More info about INTELLECTUAL DISABILITY-OBESITY-BRAIN MALFORMATIONS-FACIAL DYSMORPHISM SYNDROME

Cardiofaciocutaneous (CFC) syndrome is a multiple congenital anomaly disorder in which individuals have characteristic craniofacial features, cardiac defects, ectodermal anomalies, gastrointestinal dysfunction, and neurocognitive delay (summary by Rauen et al., 2010).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about CARDIOFACIOCUTANEOUS SYNDROME 4; CFC4

Amish lethal microcephaly is a very rare syndrome characterized by extreme microcephaly and early death, within the first year.

AMISH LETHAL MICROCEPHALY Is also known as thiamine metabolism dysfunction syndrome 3 (microcephaly type)|amish lethal microcephaly|thmd3

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Failure to thrive
  • Micrognathia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about AMISH LETHAL MICROCEPHALY

Ichthyosis follicularis - alopecia - photophobia (IFAP) is a rare genetic disorder characterized by the triad of ichthyosis follicularis, alopecia, and photophobia from birth.

ICHTHYOSIS FOLLICULARIS-ALOPECIA-PHOTOPHOBIA SYNDROME Is also known as ichthyosis follicularis-atrichia-photophobia syndrome|ifap syndrome|ichthyosis follicularis, atrichia, and photophobia with or without brain anomalies, retardation, ectodermal dysplasia, skeletal malformations, hirschsprung disease, ear/eye anomalies, cle

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ICHTHYOSIS FOLLICULARIS-ALOPECIA-PHOTOPHOBIA SYNDROME

Top 5 symptoms//phenotypes associated to Fever and Cerebellar hypoplasia

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Microcephaly Very Common - Between 80% and 100% cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Hypoplasia of the corpus callosum Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Fever and Cerebellar hypoplasia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Generalized hypotonia

Uncommon Symptoms - Between 30% and 50% cases

Nystagmus

Common Symptoms - More than 50% cases

Failure to thrive

Uncommon Symptoms - Between 30% and 50% cases

Muscular hypotonia

Common Symptoms - More than 50% cases

Growth delay

Uncommon Symptoms - Between 30% and 50% cases

Hypertonia

Common Symptoms - More than 50% cases

Ventriculomegaly

Uncommon Symptoms - Between 30% and 50% cases

Abnormal facial shape Short stature Hypertelorism Intellectual disability, severe Hearing impairment Cerebral cortical atrophy Feeding difficulties Microphthalmia Cryptorchidism Agenesis of corpus callosum High palate Micrognathia Hydronephrosis Abnormality of the kidney Cataract Flexion contracture Epicanthus Sloping forehead Cleft palate Muscular hypotonia of the trunk Bifid scrotum Lissencephaly Intrauterine growth retardation Downslanted palpebral fissures Polymicrogyria Sensorineural hearing impairment Congenital cataract Short neck Status epilepticus Ventricular septal defect Abnormality of the pinna Atrial septal defect Motor delay Strabismus Wide nasal bridge Narrow forehead Aganglionic megacolon Aplasia/Hypoplasia of the cerebellum Constipation Kyphosis Diarrhea Vomiting Optic atrophy Ptosis Delayed skeletal maturation Submucous cleft hard palate Coarctation of aorta Oligohydramnios Specific learning disability Hip dislocation Corneal opacity Polydactyly Osteoporosis Posteriorly rotated ears Severe short stature Generalized tonic-clonic seizures Scoliosis Long philtrum Spasticity Optic nerve hypoplasia Visual impairment Anteverted nares Hepatomegaly Clinodactyly of the 5th finger Hyperreflexia Apnea Micropenis Low-set ears

Rare Symptoms - Less than 30% cases

Severe intrauterine growth retardation Cerebellar atrophy Heat intolerance Hyperkalemia Absent eyebrow Thin eyebrow Abnormality of the upper urinary tract Drowsiness Adrenal insufficiency Hyperhidrosis Hypoplasia of the frontal lobes Small anterior fontanelle Myopia Unilateral renal agenesis Abnormality of the liver Pulmonic stenosis Abnormality of the genital system Renal hypoplasia Cerebellar vermis hypoplasia Fine hair Sparse scalp hair Abnormal form of the vertebral bodies Recurrent otitis media Choanal atresia Short thumb Tremor Overlapping toe Absence seizures Multicystic kidney dysplasia Abnormality of the metacarpal bones Abnormality of the urinary system Abnormality of dental enamel Aplasia/Hypoplasia of the corpus callosum Hydroureter Poor suck Partial agenesis of the corpus callosum Pyloric stenosis Hyponatremia Abnormal eyelash morphology Dilatation Feeding difficulties in infancy Developmental regression Gingival overgrowth Erythema Attention deficit hyperactivity disorder Neurological speech impairment Frontal bossing High forehead Anxiety Macrotia Ichthyosis Telecanthus Lactic acidosis Brain atrophy Camptodactyly of finger Tapered finger Mental deterioration Photophobia Absent speech Respiratory distress Intestinal obstruction Abnormal cerebellum morphology Tracheal stenosis Dysmetria Pain Hypertension Rigidity Gait ataxia Gastroesophageal reflux Brachycephaly Depressivity Encephalopathy Dementia Myoclonus Autism Acidosis Abnormality of the ribs Generalized myoclonic seizures Abnormality of cardiovascular system morphology Congenital microcephaly Postnatal growth retardation Syndactyly Alopecia Pachygyria Iris coloboma Postaxial polydactyly Postnatal microcephaly Recurrent infections Cerebral visual impairment Opacification of the corneal stroma Purpura Abnormal heart morphology Pulmonary hypoplasia Limb undergrowth Hypospadias Skeletal dysplasia Retrognathia Osteopenia Dyspnea Renal insufficiency Hypothyroidism Patent ductus arteriosus Paronychia Proptosis Hyperkeratosis Finger syndactyly Hypogonadism Glaucoma Short nose Micromelia Renal cyst Eczema Respiratory insufficiency Jaundice Hypertrophic cardiomyopathy Anemia Intellectual disability, profound Premature birth Brachydactyly Dry skin Hypotrichosis Postaxial hand polydactyly Cognitive impairment Platyspondyly Behavioral abnormality Cerebral calcification Cardiomyopathy Cerebral atrophy Decreased fetal movement Clonus Tetralogy of Fallot Depressed nasal bridge Hip subluxation Aplasia/Hypoplasia affecting the eye Median cleft palate Abnormal localization of kidney Hypocholesterolemia Decreased circulating aldosterone level Mesomelic short stature Advanced eruption of teeth Broad alveolar ridges Gastroschisis Increased nuchal translucency Ureteropelvic junction obstruction Ectopic calcification Congenital diaphragmatic hernia Increased serum testosterone level Mandibular prognathia Abnormality of the cerebral white matter Short philtrum Pectus carinatum Ichthyosis follicularis Talipes equinovarus Abnormal cardiac septum morphology Coloboma Hydrocephalus Edema Deeply set eye Pectus excavatum Talipes calcaneovalgus Elevated 7-dehydrocholesterol Abnormality of limbs Facial capillary hemangioma Opsoclonus Severe photosensitivity Alveolar ridge overgrowth Sleep-wake cycle disturbance Upslanted palpebral fissure Septate vagina Abnormality of the gallbladder Periventricular gray matter heterotopia Abnormal renal morphology Sclerocornea Gastrointestinal dysmotility Renal agenesis Cutis marmorata Abnormality of dental morphology Hammertoe Clitoral hypertrophy Sleep disturbance Proximal placement of thumb Precocious puberty Hypopigmentation of the skin Intestinal malrotation Webbed neck Reduced number of teeth Renal hypoplasia/aplasia Scrotal hypoplasia Abnormal dermatoglyphics 2-3 toe syndactyly Hypercholesterolemia Holoprosencephaly Hyperbilirubinemia Short toe Wide intermamillary distance Rhizomelia Amblyopia Dental crowding Dandy-Walker malformation Peripheral demyelination Split hand Cutaneous photosensitivity Ambiguous genitalia Hypoplasia of penis Metatarsus adductus Mesomelia Abnormality of the larynx Male pseudohermaphroditism Cholestatic liver disease Hyperactivity Bicornuate uterus Breech presentation Bifid tongue Polyhydramnios Overlapping fingers Hypoglycemia Aggressive behavior Sex reversal Excessive daytime somnolence Severe failure to thrive Intellectual disability, moderate Microglossia Low-set, posteriorly rotated ears Atrioventricular canal defect Autistic behavior Postaxial foot polydactyly Self-mutilation Upper limb undergrowth Wide mouth Toe syndactyly Abnormal lung lobation Epiphyseal stippling Hypopigmentation of hair Aplasia/Hypoplasia of the radius Ulnar deviation of finger Increased number of teeth Biparietal narrowing Abnormality of digit Self-injurious behavior Abnormality of the gastrointestinal tract Cleft upper lip Ectodermal dysplasia Scarring Papule Nail dystrophy Talipes Astigmatism Palmoplantar keratoderma Nail dysplasia Camptodactyly Epidermal acanthosis Omphalocele Renal dysplasia Cerebral cortical hemiatrophy Episcleritis Hypoplasia of dental enamel Hypohidrosis Respiratory tract infection Umbilical hernia Abnormality of the hair Dilation of lateral ventricles Progressive microcephaly Spina bifida Hypoplasia of the bladder Limb hypertonia Hypoplasia of the fovea Enlarged cisterna magna Decreased skull ossification Cleft soft palate Recurrent respiratory infections Organic aciduria Severe lactic acidosis Spinal dysraphism Temperature instability Immunodeficiency Hernia Inguinal hernia Abnormal vertebral morphology Abnormality of the nail Limitation of joint mobility Ectrodactyly Mixed hearing impairment Hypoplastic fingernail Absent septum pellucidum Abnormality of the vertebral column Congenital ichthyosiform erythroderma Atonic seizures Oligodactyly Olivopontocerebellar atrophy Follicular hyperkeratosis Uveitis Parakeratosis Alopecia of scalp Blepharitis Corneal erosion Abnormal eyelid morphology Recurrent corneal erosions Alopecia totalis Hemivertebrae Abnormality of temperature regulation Recurrent bacterial infections Conjunctivitis Plagiocephaly Abnormality of the hand Urticaria Scaling skin Hyperconvex fingernails Psoriasiform dermatitis Keratitis Abnormal nasolacrimal system morphology Erythroderma Subcortical cerebral atrophy Corneal scarring Cheilitis Alopecia universalis Oxycephaly Aciduria Metabolic acidosis Falls Misalignment of teeth Supernumerary nipple External ear malformation Pulmonary artery stenosis Abnormal eyebrow morphology Low hanging columella Chronic constipation Absent eyelashes Hallux valgus Abnormal pelvis bone morphology Bruxism Large earlobe Broad hallux phalanx Broad columella Esodeviation Prominent nasal tip Ectopic kidney Rocker bottom foot Subglottic stenosis Febrile seizures Everted lower lip vermilion Delayed eruption of teeth Abdominal distention Vesicoureteral reflux Esotropia Otitis media Focal-onset seizure Dehydration Cupped ear Open mouth Pointed chin Cutaneous syndactyly Widely spaced teeth Drooling Abnormality of the genitourinary system Sparse eyebrow Broad eyebrow Deep plantar creases Severe global developmental delay Hyperextensible skin Horizontal eyebrow Large fleshy ears Multifocal cerebral white matter abnormalities Neoplasm Leukemia Lymphoma Growth hormone deficiency Abnormality of the sternum Congenital stationary night blindness Acute lymphoblastic leukemia B-cell lymphoma Abnormal aortic valve morphology Multiple lentigines Abnormality of lateral ventricle Abnormal ventricular septum morphology Irritability Abnormality of brain morphology Malignant hyperthermia Happy demeanor Thin fingernail Atypical absence seizures Uplifted earlobe Generalized muscle hypertrophy Abnormal eye morphology Abnormal morphology of the hippocampus Large basal ganglia Pulmonary artery sling Aplasia/Hypoplasia of the cerebral white matter Underdeveloped supraorbital ridges Obesity Scleritis Thin upper lip vermilion Prominent ear helix Downturned corners of mouth Round face Congenital hypothyroidism Synophrys Prolonged QT interval Morphological abnormality of the inner ear Abnormality of the pubic bone Abnormality of the intervertebral disk Aplasia/hypoplasia of the femur Large iliac wings Abnormality of calcium-phosphate metabolism Loss of eyelashes Abnormality of the distal phalanx of finger Shoulder flexion contracture Central hypothyroidism Abnormality of the tragus Bifid femur Bowed humerus Enlarged metaphyses Absent knee epiphyses Cleft vertebral arch Bifid first metacarpal Abnormally ossified vertebrae Long clavicles Muscle weakness Short femur Arachnoid cyst Thickened nuchal skin fold Delayed epiphyseal ossification Abnormality of finger Flat acetabular roof Long foot Hypoplastic ilia Aplastic clavicle Abnormal cortical gyration 11 pairs of ribs Agenesis of cerebellar vermis Profound global developmental delay Colpocephaly Broad distal phalanx of finger Tethered cord Ataxia Peripheral neuropathy Hip contracture Pruritus Myalgia Proteinuria Protruding ear Nyctalopia Stroke Dilated cardiomyopathy Lethargy Weight loss Arthrogryposis multiplex congenita Ophthalmoplegia Carious teeth Nausea and vomiting Malabsorption Delayed puberty Anal atresia EEG abnormality Abdominal pain Dysarthria Abnormality of the dentition Skeletal muscle atrophy Gait disturbance Fatigue Dysphagia Blindness Myopathy Congestive heart failure Dystonia Diabetes mellitus Headache Visual loss Arrhythmia Areflexia Hyporeflexia Elevated serum creatine phosphokinase Rod-cone dystrophy Epileptic spasms Short humerus Confusion Neuronal loss in central nervous system Hepatosplenomegaly Elevated hepatic transaminase Skin rash Abnormality of movement Tetraplegia Gliosis Tetraparesis Splenomegaly Decreased liver function Microretrognathia Spastic tetraparesis Petechiae Increased CSF protein Abnormality of the skeletal system Malar flattening Thrombocytopenia Truncal titubation Abnormality of the nervous system Horizontal nystagmus Delayed speech and language development Clinodactyly Pallor Thin vermilion border Flat face Cyanosis Broad-based gait Finger clinodactyly Titubation Tented upper lip vermilion Focal impaired awareness seizure Oral-pharyngeal dysphagia Agitation Ankle clonus Delayed ability to walk Broad face Respiratory failure Sparse hair Osteomalacia Diabetes insipidus Sparse eyelashes Sacral dimple Preaxial polydactyly Elbow dislocation Rickets Large hands Multiple joint contractures Knee flexion contracture Prominent occiput Femoral bowing Cortical gyral simplification Long nose Prolonged neonatal jaundice Disproportionate short stature Broad palm Short chin Muscle stiffness Microtia Delayed myelination Small for gestational age Dolichocephaly Bulbous nose Short palm Thick vermilion border Single transverse palmar crease Bifid uvula Prominent nose Bilateral single transverse palmar creases Short metacarpal Hypsarrhythmia Abnormality of the metaphysis Heterotopia Bowing of the long bones Sparse and thin eyebrow Elbow flexion contracture Paresthesia Vertigo Morphological abnormality of the vestibule of the inner ear Wolff-Parkinson-White syndrome Facial diplegia Aortic dissection Renal tubular dysfunction Tubulointerstitial nephritis Visual hallucinations Increased CSF lactate Cerebral ischemia Delusions Reduced consciousness/confusion Gait imbalance Anterior hypopituitarism Stroke-like episode Seborrheic dermatitis Left ventricular failure Speech apraxia Cardiorespiratory arrest Transient ischemic attack Abnormality of peripheral nerve conduction Hashimoto thyroiditis Rhabdomyolysis Thyroiditis Abnormality of immune system physiology Primary adrenal insufficiency Pulmonary embolism Distal arthrogryposis Atopic dermatitis Abnormality of visual evoked potentials Posterior subcapsular cataract Neonatal hypoglycemia Vitiligo Xerostomia Heart block Hypoparathyroidism Mitochondrial myopathy Progressive external ophthalmoplegia Retinal pigment epithelial atrophy Proximal tubulopathy Basal ganglia calcification Progressive night blindness Hemeralopia Abnormal macular morphology Spotty hypopigmentation Abnormal mitochondrial morphology Edema of the dorsum of hands Cochlear malformation Cochlear degeneration Abnormality of the cerebellar vermis Abnormal mitochondrial shape Paralytic ileus Abnormal cochlea morphology Homonymous hemianopia Abnormality of acid-base homeostasis Episodic quadriplegia Bilateral intracranial calcifications Crohn's disease Psychotic episodes Ileus Writer's cramp Hemianopia Abnormality of the renal tubule Episodic vomiting Motor polyneuropathy Dysesthesia Psychomotor deterioration Muscle fiber atrophy Persistence of primary teeth Tubulointerstitial abnormality Leber optic atrophy Spontaneous hematomas Gastroparesis Amaurosis fugax Auditory hallucinations Abnormal nerve conduction velocity Renal Fanconi syndrome Hyperthyroidism Glomerulopathy Peripheral axonal neuropathy Involuntary movements Pulmonary arterial hypertension Psychosis Ventricular hypertrophy Atrial fibrillation Hemiparesis Hypertrichosis Decreased body weight Nephrotic syndrome Left ventricular hypertrophy Anorexia Abnormality of retinal pigmentation Hallucinations Cardiac arrest Truncal ataxia EMG abnormality Type II diabetes mellitus Bilateral sensorineural hearing impairment Hypogonadotrophic hypogonadism Sudden cardiac death Nausea Hirsutism Nephropathy Polyneuropathy Coma Postural instability Muscle cramps Sensory impairment Generalized-onset seizure Migraine Increased serum lactate Memory impairment Hip dysplasia Amenorrhea Pigmentary retinopathy Abnormality of the cardiovascular system Generalized hirsutism Type I diabetes mellitus Progressive sensorineural hearing impairment Focal segmental glomerulosclerosis Aortic aneurysm Abnormality of mitochondrial metabolism Ophthalmoparesis Personality changes Mask-like facies Hemiplegia/hemiparesis Abnormality of neuronal migration Bilateral ptosis Bundle branch block Aphasia Vestibular dysfunction Dysphasia Visual field defect Multiple lipomas Vertebral fusion Hemiplegia Hypercalciuria Exercise intolerance Mutism Macular degeneration Pancreatitis External ophthalmoplegia Reduced tendon reflexes Ragged-red muscle fibers Ischemic stroke Hypopigmented skin patches Schizophrenia Decreased nerve conduction velocity Goiter Hyperkinesis Easy fatigability Growth abnormality Chronic kidney disease Atrioventricular block Cachexia Unilateral chest hypoplasia


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