Fever, and Apraxia

Diseases related with Fever and Apraxia

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

Top matches:

Rapid-onset dystonia-parkinsonism (RDP) is a very rare movement disorder, characterized by the abrupt onset of parkinsonism and dystonia, often triggered by physical or psychological stress.

RAPID-ONSET DYSTONIA-PARKINSONISM Is also known as dyt12|dystonia-parkinsonism, rapid-onset|rdp|dystonia 12

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Motor delay


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about RAPID-ONSET DYSTONIA-PARKINSONISM

MIGRAINE, FAMILIAL HEMIPLEGIC, 2; FHM2 Is also known as mhp2

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about MIGRAINE, FAMILIAL HEMIPLEGIC, 2; FHM2

Medium match KUFOR-RAKEB SYNDROME

Kufor-Rakeb syndrome (KRS) is a rare genetic neurodegenerative disorder characterized by juvenile Parkinsonism, pyramidal degeneration (dystonia), supranuclear palsy, and cognitive impairment.

KUFOR-RAKEB SYNDROME Is also known as parkinson disease 9, autosomal recessive, juvenile-onset|park9|pallidopyramidal degeneration with supranuclear upgaze paresis and dementia|krppd

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Nystagmus
  • Spasticity


SOURCES: OMIM ORPHANET MENDELIAN

More info about KUFOR-RAKEB SYNDROME

Other less relevant matches:

Alacrimia-choreoathetosis-liver dysfunction syndrome is a rare, genetic, inborn error of metabolism disorder characterized by global developmental delay, hypotonia, choreoathetosis, hypo-/alacrimia, and liver dysfunction which manifests with elevated liver transanimases and hepatocyte cytoplasmic storage material or vacuolization on liver biposy. Additional features reported include acquired microcephaly, hypo-/areflexia, seizures, peripheral neuropathy, intellectual and language/speech disability, additional ocular anomalies and EEG and brain imaging abnomalities.

ALACRIMIA-CHOREOATHETOSIS-LIVER DYSFUNCTION SYNDROME Is also known as cdg1v, formerly|congenital disorder of glycosylation, type iv, formerly|ngly1 deficiency|ngly1-cddg

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ALACRIMIA-CHOREOATHETOSIS-LIVER DYSFUNCTION SYNDROME

Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly.

OROFACIODIGITAL SYNDROME TYPE 6 Is also known as vÁradi syndrome|polydactyly-cleft lip/palate-psychomotor retardation syndrome|polydactyly, cleft lip/palate or lingual lump, and psychomotor retardation|vÁradi-papp syndrome|joubert syndrome with orofaciodigital defect|oral-facial-digital syndrome type 6|

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about OROFACIODIGITAL SYNDROME TYPE 6

Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD; see this term). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2.

GAUCHER DISEASE TYPE 2 Is also known as infantile cerebral gaucher disease|acute neuronopathic gaucher disease

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET MENDELIAN

More info about GAUCHER DISEASE TYPE 2

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

Dopa-responsive dystonia (DRD) due to sepiapterin reductase deficiency (SRD) is a very rare neurometabolic disorder characterized by dystonia with diurnal fluctuations, axial hypotonia, oculogyric crises, and delays in motor and cognitive development.

DOPA-RESPONSIVE DYSTONIA DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY Is also known as srd|spr deficiency|drd due to srd|sepiapterin reductase deficiency|autosomal recessive sepiapterin reductase-deficient drd

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about DOPA-RESPONSIVE DYSTONIA DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY

Hypomyelinating leukodystrophy-12 is an autosomal recessive neurologic disorder characterized by severely delayed or even lack of psychomotor development that becomes apparent in the first months of life. Patients are markedly disabled, with acquired microcephaly, lack of speech, and often lack of spontaneous movement due to hypotonia and spasticity. Brain imaging shows delayed myelination (summary by Edvardson et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of HLD, see {312080}.

VPS11-RELATED AUTOSOMAL RECESSIVE HYPOMYELINATING LEUKODYSTROPHY Is also known as vps11-related autosomal recessive hypomyelinating leukoencephalopathy

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about VPS11-RELATED AUTOSOMAL RECESSIVE HYPOMYELINATING LEUKODYSTROPHY

ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 5; IIAE5 Is also known as herpes simplex encephalitis, susceptibility to, 3

Related symptoms:

  • Seizures
  • Fever
  • Diarrhea
  • Aphasia


SOURCES: OMIM MENDELIAN

More info about ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 5; IIAE5

Top 5 symptoms//phenotypes associated to Fever and Apraxia

Symptoms // Phenotype % cases
Seizures Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
Tremor Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Generalized hypotonia

Uncommon Symptoms - Between 30% and 50% cases

Hypertonia

Common Symptoms - More than 50% cases

Dystonia

Uncommon Symptoms - Between 30% and 50% cases

Microcephaly Myoclonus Dysarthria Nystagmus Hearing impairment Failure to thrive Spasticity Gait disturbance Apnea Growth delay Hyperreflexia Dysphagia Motor delay Abnormality of eye movement Aphasia Rigidity Abnormal cerebellum morphology Drowsiness Nausea Cognitive impairment Paresthesia Peripheral neuropathy Confusion Fatigue Dementia Hepatomegaly Lethargy Constipation Limb hypertonia Diarrhea Oculomotor apraxia Feeding difficulties in infancy Decreased body weight Involuntary movements Encephalopathy Hypertelorism Respiratory distress Ventriculomegaly Optic atrophy Developmental regression Ptosis Pain Muscular hypotonia Dysmetria Hyperkinesis Intellectual disability, mild Gait ataxia Cerebellar atrophy Depressivity Anxiety Abnormality of movement Hypomimic face Progressive neurologic deterioration Oculogyric crisis Parkinsonism Postural instability Bradykinesia Vomiting

Rare Symptoms - Less than 30% cases

Hepatosplenomegaly Generalized myoclonic seizures Aspiration Abdominal pain Abnormal facial shape Delayed skeletal maturation Purpura Arrhythmia Kyphosis Congestive heart failure Ophthalmoplegia Psychotic episodes Short stature Bilateral ptosis Photophobia Spontaneous hematomas Flexion contracture Hyponatremia Anemia Absent speech Athetosis Supranuclear gaze palsy Visual hallucinations Slow saccadic eye movements Scoliosis Mutism Polyneuropathy Hyperhidrosis Pulmonary arterial hypertension Delayed myelination Jaundice Corneal opacity Anorexia Abnormality of the liver Increased serum lactate Elevated hepatic transaminase EEG abnormality Osteoporosis Recurrent respiratory infections Strabismus Choreoathetosis Hyporeflexia Gastroesophageal reflux Splenomegaly Irritability Gliosis Hypokinesia Postnatal microcephaly Cardiac arrest Torticollis Dyspnea Pulmonary embolism Drooling Cerebral visual impairment Delayed speech and language development Aggressive behavior Difficulty walking Cerebral cortical atrophy Babinski sign Cerebral atrophy Personality disorder Muscle weakness Sensorineural hearing impairment Restlessness Abnormality of neuronal migration Dysphasia Temperature instability Mental deterioration Hemiplegia Hemiparesis Intention tremor Migraine Edema Coma Blindness Vertigo Behavioral abnormality Headache Stroke Abnormality of the eye Visual impairment Abnormal pyramidal sign Dyskinesia Hallucinations Muscular hypotonia of the trunk Brain atrophy Poor speech Truncal ataxia Psychosis Clonus Abnormality of extrapyramidal motor function Akinesia Mask-like facies Abnormal autonomic nervous system physiology Chronic kidney disease Atrioventricular block Abnormality of the cardiovascular system Specific learning disability Status epilepticus Amenorrhea EMG abnormality Hip dysplasia Pigmentary retinopathy Atrial fibrillation Gingival overgrowth Hypertrichosis Cerebral calcification Ventricular hypertrophy Growth abnormality Generalized-onset seizure Reduced tendon reflexes Exercise intolerance Nephrotic syndrome Type I diabetes mellitus Pancreatitis External ophthalmoplegia Hypogonadotrophic hypogonadism Abnormality of retinal pigmentation Ragged-red muscle fibers Macular degeneration Bilateral sensorineural hearing impairment Generalized hirsutism Type II diabetes mellitus Ischemic stroke Hypopigmented skin patches Schizophrenia Goiter Easy fatigability Left ventricular hypertrophy Reduced visual acuity Memory impairment Respiratory insufficiency Diabetes mellitus Hypogonadism Rod-cone dystrophy Cerebellar hypoplasia Elevated serum creatine phosphokinase Areflexia Visual loss Renal insufficiency Abnormality of the dentition Myopathy Cardiomyopathy Short neck Skeletal muscle atrophy Autism Hypertension Feeding difficulties Cataract EEG with temporal sharp waves Slowed horizontal saccades Cardiac valve calcification Abnormal platelet aggregation Hematological neoplasm Decreased beta-glucocerebrosidase protein and activity Erlenmeyer flask deformity of the femurs CSF pleocytosis Orthopnea Laryngeal stridor Weight loss Hypothyroidism Sensory impairment Carious teeth Sudden cardiac death Muscle cramps Nephropathy Hirsutism Polymicrogyria Lactic acidosis Peripheral axonal neuropathy Ichthyosis Anal atresia Delayed puberty Malabsorption Nausea and vomiting Decreased nerve conduction velocity Congenital cataract Acidosis Arthrogryposis multiplex congenita Generalized tonic-clonic seizures Pruritus Dilated cardiomyopathy Neurological speech impairment Attention deficit hyperactivity disorder Nyctalopia Erythema Protruding ear Abnormality of the pinna Hypertrophic cardiomyopathy Proteinuria Myalgia Cachexia Hypoparathyroidism Hypercalciuria Abnormality of the cerebellar vermis Abnormal cochlea morphology Paralytic ileus Abnormal mitochondrial shape Cochlear degeneration Progressive night blindness Cochlear malformation Edema of the dorsum of hands Abnormal mitochondrial morphology Paronychia Spotty hypopigmentation Abnormal macular morphology Hemeralopia Crohn's disease Tubulointerstitial abnormality Abnormality of acid-base homeostasis Renal Fanconi syndrome Abnormal nerve conduction velocity Auditory hallucinations Amaurosis fugax Abnormality of the periventricular white matter Central hypotonia Developmental stagnation Delayed CNS myelination Neurogenic bladder Gastroparesis Leber optic atrophy Persistence of primary teeth Writer's cramp Homonymous hemianopia Episodic quadriplegia Psychomotor deterioration Focal-onset seizure Hypoplasia of the corpus callosum Transient hyperphenylalaninemia Hyperphenylalaninemia Excessive daytime sleepiness Hypersomnia Coarse facial features Abnormality of the tongue Excessive salivation Abnormality of the nose Generalized dystonia Agitation Postural tremor Severe global developmental delay Febrile seizures Bilateral intracranial calcifications Leukodystrophy CNS hypomyelination Cerebral palsy Focal impaired awareness seizure Multiple joint contractures Muscle stiffness Horizontal nystagmus Sleep disturbance Small for gestational age Hyperactivity Talipes equinovarus Prominent ear helix Morphological abnormality of the inner ear Morphological abnormality of the vestibule of the inner ear Muscle fiber atrophy Dysesthesia Aortic aneurysm Multiple lipomas Abnormality of visual evoked potentials Hashimoto thyroiditis Atopic dermatitis Distal arthrogryposis Primary adrenal insufficiency Abnormality of immune system physiology Thyroiditis Rhabdomyolysis Hyperthyroidism Basal ganglia calcification Glomerulopathy Progressive sensorineural hearing impairment Vertebral fusion Prolonged QT interval Vitiligo Visual field defect Hyperkalemia Vestibular dysfunction Bundle branch block Adrenal insufficiency Overlapping toe Focal segmental glomerulosclerosis Hemiplegia/hemiparesis Bifid scrotum Aplasia/Hypoplasia of the cerebellum Intestinal obstruction Personality changes Ophthalmoparesis Abnormality of mitochondrial metabolism Neonatal hypoglycemia Xerostomia Cerebral hypomyelination Anterior hypopituitarism Diffuse white matter abnormalities Motor polyneuropathy Episodic vomiting Abnormality of the renal tubule Hemianopia Ileus Proximal tubulopathy Abnormality of peripheral nerve conduction Retinal pigment epithelial atrophy Speech apraxia Left ventricular failure Seborrheic dermatitis Stroke-like episode Gait imbalance Heart block Reduced consciousness/confusion Cerebral ischemia Wolff-Parkinson-White syndrome Increased CSF lactate Tubulointerstitial nephritis Renal tubular dysfunction Aortic dissection Facial diplegia Cardiorespiratory arrest Delusions Transient ischemic attack Posterior subcapsular cataract Progressive external ophthalmoplegia Mitochondrial myopathy Giant cell hepatitis Cirrhosis Intestinal bleeding Sleep apnea Perivascular spaces Corneal ulceration Decreased sensory nerve conduction velocity Elevated alpha-fetoprotein Alacrima Pain insensitivity Action tremor Blepharitis Axonal loss Muscle fibrillation Anhidrosis Oral-pharyngeal dysphagia Cone/cone-rod dystrophy High myoinositol in brain by MRS Coxa valga Decreased liver function Recurrent fractures Single transverse palmar crease Short foot Small hand Joint hypermobility Scarring Respiratory tract infection Lingual dystonia Eyelid apraxia Hyperactive patellar reflex Intrinsic hand muscle atrophy Decreased CSF 5-hydroxyindolacetic acid Difficulty in tongue movements Clinodactyly Prominent nasal bridge Abnormality of the kidney Low-set, posteriorly rotated ears Cleft lip Abnormality of the nervous system Conductive hearing impairment Micropenis Polydactyly Posteriorly rotated ears Agenesis of corpus callosum Inguinal hernia Abnormal heart morphology Hernia Decreased CSF albumin Dilatation Syndactyly Intellectual disability, severe Frontal bossing Brachydactyly Epicanthus High palate Low-set ears Cryptorchidism Cleft palate Micrognathia Decreased CSF/serum albumin ratio Upgaze palsy Cerebellar cortical atrophy Cleft upper lip Craniofacial dystonia Borderline personality disorder Phonophobia Migraine with aura Episodic ataxia Severe hearing impairment Blurred vision Loss of consciousness Tinnitus Diplopia Autistic behavior Intellectual disability, moderate Retrocollis Abnormal posturing Transient unilateral blurring of vision Weak voice Torsion dystonia Focal dystonia Limb dystonia Resting tremor Emotional lability Dysphonia Broad-based gait Neuronal loss in central nervous system Progressive cerebellar ataxia Inability to walk Unsteady gait Migraine without aura Spastic paraplegia Abnormality of higher mental function Diffuse cerebral atrophy Stooped posture Leg muscle stiffness Hyperreflexia in upper limbs Vertical supranuclear gaze palsy Anarthria Pseudobulbar paralysis Vacuolated lymphocytes Cogwheel rigidity Parkinsonism with favorable response to dopaminergic medication Upper motor neuron dysfunction Hyposmia Short attention span Abnormality of finger Abnormality of the foot Blepharospasm Lower limb hyperreflexia Bowel incontinence Global brain atrophy Apathy Anosmia Paraparesis Urinary incontinence Chorea Generalized muscle weakness Neurodegeneration Distal sensory impairment Paraplegia Toe syndactyly Oral cleft Subcutaneous hemorrhage Hyperammonemia Petechiae Abnormality of coagulation Opisthotonus Menorrhagia Heart murmur Clubbing Ectropion Abnormality of the thorax Portal hypertension Intracranial hemorrhage Cholelithiasis Poor suck Leukopenia Exertional dyspnea Osteolysis Hyperbilirubinemia Knee flexion contracture Hypocalcemia Elbow flexion contracture Bone pain Progressive microcephaly Hydrops fetalis Thickened skin Cholestasis Epistaxis Pancytopenia Interstitial pulmonary abnormality Bulbar palsy Cyanosis Multiple myeloma Abducens palsy Axial dystonia Hemophagocytosis Eclabion Abnormal pattern of respiration Histiocytosis Generalized osteosclerosis Restrictive deficit on pulmonary function testing Avascular necrosis of the capital femoral epiphysis Abnormality of the spleen Hypoxemia Abnormality of the larynx Congenital nonbullous ichthyosiform erythroderma Congenital ichthyosiform erythroderma Nonimmune hydrops fetalis Trismus Bulbar signs Hypomagnesemia Fetal akinesia sequence Aspiration pneumonia Increased serum ferritin Hepatocellular carcinoma Epileptic spasms Protuberant abdomen Atrophy/Degeneration affecting the brainstem Poor eye contact Decreased fetal movement Abnormality of the skin Long face Preaxial polydactyly Foot polydactyly Hamartoma Biparietal narrowing Partial agenesis of the corpus callosum Tibial bowing Abnormal retinal morphology Molar tooth sign on MRI Preaxial hand polydactyly Bilateral cryptorchidism Radial deviation of finger Trigonocephaly Hand polydactyly Polycystic kidney dysplasia Short femur Renal hypoplasia/aplasia Tachypnea Aplasia/Hypoplasia of the corpus callosum Finger clinodactyly Renal dysplasia Cerebellar vermis hypoplasia Dandy-Walker malformation Renal agenesis Esotropia Broad nasal tip Highly arched eyebrow Postaxial polydactyly Meningocele Preaxial foot polydactyly Syncope Intrauterine growth retardation Abnormal bleeding Ascites Pulmonary hypoplasia Hepatic failure Lymphadenopathy Cough Pallor Hypoglycemia Umbilical hernia Osteopenia Polyhydramnios Thrombocytopenia Central Y-shaped metacarpal Accessory oral frenulum Midline notch of upper alveolar ridge Y-shaped metacarpals Occipital meningocele Mesoaxial hand polydactyly Hypoplasia of olfactory tract Bulimia Hypothalamic hamartoma Episodic tachypnea Mesoaxial polydactyly Tongue nodules Hamartoma of tongue Lobulated tongue Abnormal oral frenulum morphology Oromotor apraxia


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