Hyperreflexia, and Abdominal pain

Diseases related with Hyperreflexia and Abdominal pain

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

Top matches:

DLD deficiency is an autosomal recessive metabolic disorder characterized biochemically by a combined deficiency of the branched-chain alpha-keto acid dehydrogenase complex (BCKDC), pyruvate dehydrogenase complex (PDC), and alpha-ketoglutarate dehydrogenase complex (KGDC). This is the result of E3 being a common component of all 3 mitochondrial multienzyme complexes. Clinically, affected individuals have lactic acidosis and neurologic deterioration due to sensitivity of the central nervous system to defects in oxidative metabolism. E3 deficiency is often associated with increased urinary excretion of alpha-keto acids, such as pyruvate (summary by Hong et al., 1996). E3 deficiency can also be associated with increased concentrations of branched-chain amino acids, as observed in maple syrup urine disease (MSUD ), and is sometimes referred to as 'MSUD type III,' although patients with E3 deficiency have additional biochemical defects (Chuang and Shih, 2001; Robinson, 2001).

DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY; DLDD Is also known as maple syrup urine disease, type iii|e3 deficiency|lipoamide dehydrogenase deficiency, lactic acidosis due to|dld deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY; DLDD

Sandhoff disease is a progressive neurodegenerative disorder characterized by an accumulation of GM2 gangliosides, particularly in neurons, and is clinically indistinguishable from Tay-Sachs disease (OMIM ).

SANDHOFF DISEASE, INFANTILE FORM Is also known as infantile gm2 gangliosidosis 0 variant|hexosaminidases a and b deficiency|hexosaminidases a and b deficiency, infantile form|gm2-gangliosidosis, type ii

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Ataxia
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about SANDHOFF DISEASE, INFANTILE FORM

Atelosteogenesis is the name given by Maroteaux et al. (1982) to a lethal chondrodysplasia characterized by distal hypoplasia of the humeri and femurs, hypoplasia of the midthoracic spine, occasionally complete lack of ossification of single hand bones, and the finding in cartilage of multiple degenerated chondrocytes encapsulated in fibrous tissue. Rimoin et al. (1980) termed it 'giant cell chondrodysplasia.' Patients with AO1 exhibit severe short-limbed dwarfism and dislocated elbows, hips, and knees (Jeon et al., 2014). Genetic Heterogeneity of AtelosteogenesisAtelosteogenesis type II (AO2 ) is caused by mutation in the SLC26A2 gene (OMIM ) on chromosome 5q32. AO3 (OMIM ) is also caused by mutation in the FLNB gene (OMIM ).

ATELOSTEOGENESIS, TYPE I; AO1 Is also known as giant cell chondrodysplasia|spondylohumerofemoral hypoplasia|aoi

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about ATELOSTEOGENESIS, TYPE I; AO1

Other less relevant matches:

Low 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

Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD; see this term) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1 (see this term).

GAUCHER DISEASE TYPE 3 Is also known as chronic neuronopathic gaucher disease|cerebral juvenile and adult form of gaucher disease|gaucher disease, subacute neuronopathic type

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Scoliosis


SOURCES: ORPHANET MENDELIAN

More info about GAUCHER DISEASE TYPE 3

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

Low 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

Spinocerebellar ataxia type 25 (SCA25) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar ataxia and prominent sensory neuropathy.

SPINOCEREBELLAR ATAXIA TYPE 25 Is also known as sca25

Related symptoms:

  • Scoliosis
  • Ataxia
  • Nystagmus
  • Strabismus
  • Visual impairment


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 25

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

Hereditary coproporphyria is a form of acute hepatic porphyria (see this term) characterized by the occurrence of neuro-visceral attacks and, more rarely, by the presence of cutaneous lesions.

HEREDITARY COPROPORPHYRIA Is also known as cpox deficiency|cpx deficiency|coproporphyrinogen oxidase deficiency|cpo deficiency

Related symptoms:

  • Seizures
  • Muscle weakness
  • Pain
  • Anemia
  • Hypertension


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about HEREDITARY COPROPORPHYRIA

Top 5 symptoms//phenotypes associated to Hyperreflexia and Abdominal pain

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
Hepatomegaly Common - Between 50% and 80% cases
Gait disturbance Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Hyperreflexia and Abdominal pain. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Intellectual disability

Uncommon Symptoms - Between 30% and 50% cases

Vomiting

Common Symptoms - More than 50% cases

Pain

Uncommon Symptoms - Between 30% and 50% cases

Scoliosis Recurrent respiratory infections Diarrhea Constipation Depressivity Failure to thrive Hearing impairment Nausea and vomiting Macrocephaly Dysarthria Visual impairment Peripheral neuropathy Hepatosplenomegaly Anxiety Kyphosis Short stature Malabsorption Congestive heart failure Growth delay Microcephaly Arthralgia Blindness Fatigue Tremor Feeding difficulties Splenomegaly Muscle weakness Hypertonia Renal insufficiency Short neck Respiratory distress Dyspnea Abnormality of the dentition Depressed nasal bridge Carious teeth Behavioral abnormality Glaucoma Cognitive impairment Abnormal facial shape Sensorineural hearing impairment Cataract Micrognathia Hypertelorism Stroke Weight loss Myalgia Joint stiffness Paresthesia Confusion Hemiparesis Cerebral ischemia Irritability Nystagmus Strabismus Anemia Developmental regression Arrhythmia Abnormal pyramidal sign Delayed skeletal maturation Otitis media Osteoporosis Osteopenia Generalized myoclonic seizures Proteinuria Nausea Corneal opacity Generalized tonic-clonic seizures Gastroesophageal reflux Autism Headache Exertional dyspnea Psychosis Hypertension Dementia Cerebral cortical atrophy Coarse facial features Paralysis Macroglossia Progressive cerebellar ataxia Attention deficit hyperactivity disorder Areflexia Cardiomegaly Progressive neurologic deterioration Hypertrophic cardiomyopathy Acidosis Gait ataxia Generalized hypotonia Muscular hypotonia Motor delay Encephalopathy Dystonia Cardiomyopathy

Rare Symptoms - Less than 30% cases

Dysphagia Ischemic stroke Insomnia Glomerulopathy Feeding difficulties in infancy Pulmonary embolism Aseptic necrosis Gingival overgrowth Hypercalciuria Abnormal myocardium morphology Myopia Schizophrenia Dysmetria Pruritus Pancreatitis Protruding ear Neurological speech impairment Increased intracranial pressure Easy fatigability Anorexia Abnormality of the cardiovascular system Involuntary movements Reduced visual acuity Photophobia Hypertrichosis Erythema Ventricular hypertrophy Scarring Type II diabetes mellitus Hypogonadotrophic hypogonadism Mitral regurgitation Sudden cardiac death Lymphadenopathy Vertigo Chest pain Myoclonus Memory impairment Abnormal blistering of the skin Myocardial infarction Postural instability Migraine Cerebellar hypoplasia Jaundice Tubulointerstitial abnormality Inguinal hernia Pes cavus Kyphoscoliosis Umbilical hernia Craniosynostosis Nyctalopia Ileus Genu valgum Thick vermilion border Auditory hallucinations Abnormality of dental morphology Hernia Chronic otitis media Sleep disturbance Hip dysplasia Microdontia Recurrent otitis media Abnormal form of the vertebral bodies Abnormality of retinal pigmentation Aortic valve stenosis Generalized hirsutism Abnormality of dental enamel Widely spaced teeth Gait imbalance Intellectual disability, mild Hypothyroidism Increased bone mineral density Diabetes mellitus Hyponatremia Mental deterioration Arnold-Chiari malformation Elevated serum creatine phosphokinase Ophthalmoplegia Delayed puberty Pulmonary arterial hypertension Decreased body weight Cerebellar atrophy Cholelithiasis Respiratory insufficiency Myopathy Portal hypertension Restrictive ventilatory defect Abnormal heart valve morphology Spontaneous hematomas Ptosis Aortic valve calcification Mitral valve calcification Abnormal nerve conduction velocity Tubulointerstitial nephritis Visual hallucinations Hirsutism Hallucinations Visual loss Orthostatic hypotension Incoordination Clubbing Supranuclear gaze palsy Proptosis Opisthotonus Neonatal hypoglycemia Episodic abdominal pain Abdominal distention Hyperkinesis Hemiplegia Severe short stature Macrotia Skeletal dysplasia Hyperlordosis Autistic behavior Neurodegeneration Meningitis Recurrent urinary tract infections Respiratory tract infection Lumbar hyperlordosis Skeletal muscle atrophy Intention tremor Babinski sign Cryptorchidism Delayed speech and language development Lactic acidosis Abnormality of the liver Short nose Elevated hepatic transaminase Midface retrusion Cleft palate Malar flattening Metabolic acidosis Flexion contracture Fever Spasticity Lethargy Optic atrophy Episodic vomiting Decreased number of peripheral myelinated nerve fibers Motor polyneuropathy Abnormality of the renal tubule Morphological abnormality of the inner ear Dysesthesia Psychomotor deterioration Writer's cramp Persistence of primary teeth Leber optic atrophy Urinary urgency Muscle fiber atrophy Abnormality of peripheral nerve conduction Hemianopia Descending aorta hypoplasia Impaired pain sensation Proximal tubulopathy Amaurosis fugax Retinal pigment epithelial atrophy Speech apraxia Left ventricular failure Seborrheic dermatitis Stroke-like episode Anterior hypopituitarism Paroxysmal bursts of laughter Reduced consciousness/confusion Wolff-Parkinson-White syndrome Increased CSF lactate Gastroparesis Abnormality of the cerebellar vermis Functional abnormality of male internal genitalia Abnormality of acid-base homeostasis Abnormal mitochondrial shape Paralytic ileus Prominent ear helix Abnormal cochlea morphology Thyroid hemiagenesis Homonymous hemianopia Bilateral vocal cord paralysis Nystagmus-induced head nodding Elfin facies Episodic quadriplegia Medial flaring of the eyebrow Bilateral intracranial calcifications Abnormality of the diencephalon Morphological abnormality of the vestibule of the inner ear Cochlear degeneration Progressive night blindness Renal Fanconi syndrome Abnormal macular morphology Stellate iris Psychotic episodes Abnormal carotid artery morphology Crohn's disease Hemeralopia Dyssynergia Spotty hypopigmentation Cochlear malformation Paronychia Early onset of sexual maturation Overfriendliness Abnormal mitochondrial morphology Sensory neuropathy Distal sensory impairment Edema of the dorsum of hands Delusions Vocal cord dysfunction Prolonged neonatal jaundice Atrioventricular block Cachexia Decreased nerve conduction velocity Delirium Paranoia Fragile skin Bilateral ptosis Aortic aneurysm Hypermelanotic macule Congenital hemolytic anemia Abnormality of mitochondrial metabolism Thin skin Cutaneous photosensitivity Ophthalmoparesis Hypotension Personality changes Hemolytic anemia Tachycardia Chronic kidney disease Growth abnormality Abnormality of metabolism/homeostasis Exercise intolerance Red urine Cerebral visual impairment Abdominal colic Clonus Cardiac arrest Truncal ataxia EMG abnormality Type I diabetes mellitus Purpura Goiter Macular degeneration External ophthalmoplegia Reduced tendon reflexes Ragged-red muscle fibers Respiratory paralysis Hypopigmented skin patches Mutism Compensated hemolytic anemia Intestinal obstruction Atrophy/Degeneration involving the corticospinal tracts Renal tubular dysfunction Heart block Primary adrenal insufficiency Distal arthrogryposis Drowsiness Atopic dermatitis Hashimoto thyroiditis Abnormality of visual evoked potentials Vitiligo Xerostomia Hypoparathyroidism Thyroiditis Mitochondrial myopathy Progressive external ophthalmoplegia Posterior subcapsular cataract Transient ischemic attack Tics Cardiorespiratory arrest Facial diplegia Aortic dissection Abnormality of immune system physiology Rhabdomyolysis Aplasia/Hypoplasia of the cerebellum Aphasia Bifid scrotum Mask-like facies Hemiplegia/hemiparesis Focal segmental glomerulosclerosis Abnormality of neuronal migration Overlapping toe Adrenal insufficiency Bundle branch block Vestibular dysfunction Hyperthyroidism Dysphasia Hyperkalemia Visual field defect Prolonged QT interval Multiple lipomas Vertebral fusion Progressive sensorineural hearing impairment Basal ganglia calcification EMG: neuropathic changes Impaired distal tactile sensation Areflexia of lower limbs Polyuria Nephritis Obsessive-compulsive behavior Unilateral renal agenesis Hypoplastic toenails Abnormal endocardium morphology Thyroid hypoplasia Tracheoesophageal fistula Glucose intolerance Loss of consciousness Precocious puberty Open bite Hallux valgus Retinal vascular tortuosity Premature graying of hair Vertebral segmentation defect Celiac disease Increased nuchal translucency High hypermetropia Abnormality of the voice Radioulnar synostosis Facial cleft Bicuspid aortic valve Renal duplication Hemivertebrae Nephrocalcinosis Aplasia/Hypoplasia of the iris Spina bifida occulta Cutis laxa Abnormal dermatoglyphics Progressive hearing impairment Sacral dimple Failure to thrive in infancy Infantile muscular hypotonia Reduced bone mineral density Adducted thumb Abnormality of pelvic girdle bone morphology Polycystic ovaries Dysphonia Redundant skin Hypercalcemia Prematurely aged appearance Restlessness Vascular tortuosity Dyslexia Peripheral pulmonary artery stenosis Abnormality of the vasculature Patellar dislocation Decreased plasma carnitine Periorbital fullness Multiple renal cysts Down-sloping shoulders Abnormality of refraction Villous atrophy Abnormal renal morphology Enuresis Abnormality of the cerebral vasculature Vocal cord paralysis Abnormality of the neck Large earlobe Right ventricular hypertrophy Chronic constipation Hypoplasia of the zygomatic bone Subvalvular aortic stenosis Lacrimation abnormality Abnormal glucose tolerance Poor coordination Megalocornea Abnormality of lipid metabolism Urethral stenosis Posterior embryotoxon Arnold-Chiari type I malformation Nevus flammeus Soft skin Parathyroid hyperplasia Phonophobia Bladder diverticulum Abnormality of nervous system morphology Dysgraphia Arterial stenosis Rectal prolapse Pulmonary artery stenosis Periorbital edema Peptic ulcer Cystic renal dysplasia Colonic diverticula Abnormality of the ankles Spastic dysarthria Pes planus Obesity Abnormality of the gastric mucosa Pectus excavatum Patent ductus arteriosus Abnormal heart morphology Clinodactyly of the 5th finger Micropenis High forehead Joint laxity Absent speech Cleft lip Intellectual disability, moderate Low-set, posteriorly rotated ears Abnormality of the kidney Wide mouth Infantile hypercalcemia Blepharophimosis Abnormal cardiac septum morphology Renovascular hypertension Long philtrum Small for gestational age Supravalvular aortic stenosis Decreased number of large peripheral myelinated nerve fibers Diffuse cerebellar atrophy Myxomatous mitral valve degeneration Facial myokymia Unilateral renal hypoplasia Blue irides Calcification of the aorta Impaired visuospatial constructive cognition Abolished vibration sense Atrial septal defect Flat cornea Abnormal social behavior Facial tics Abnormal morphology of the cerebellar cortex Epicanthus Wide nasal bridge Intrauterine growth retardation Ventricular septal defect Broad forehead Pulmonic stenosis Overriding aorta Amblyopia Small nail Thick lower lip vermilion Hyperacusis Retinal arteriolar tortuosity Coronary artery stenosis Open mouth Renal artery stenosis Nephrolithiasis Hoarse voice Hypsarrhythmia Abnormality of the bladder Synostosis of joints Nocturia Obsessive-compulsive trait Narrow face Aortic arch aneurysm Increased body weight Pointed chin Renal hypoplasia Coarctation of aorta Joint hyperflexibility Dental malocclusion Food intolerance Smooth philtrum Oral cleft Everted lower lip vermilion Hypodontia Broad nasal tip Full cheeks Vesicoureteral reflux Esotropia Abnormality of extrapyramidal motor function Renal agenesis Pelvic kidney Dehydration Tetralogy of Fallot Narrow forehead Hypotelorism Mitral valve prolapse Hypoplasia of penis Abnormality of the fingernails Sparse axillary hair Left ventricular hypertrophy Pulmonary infiltrates Epiphora Blurred vision Keratoconjunctivitis sicca Pericarditis Hemoptysis Uveitis Pustule Gangrene Acne Raynaud phenomenon Myositis Arterial thrombosis Recurrent aphthous stomatitis Stomatitis Alopecia areata Endocarditis Oral ulcer Inflammation of the large intestine Rheumatoid arthritis Thrombophlebitis Autoimmunity Club-shaped proximal femur Multinucleated giant chondrocytes in epiphyseal cartilage Distal tapering femur Neoplasm Dilatation Alopecia Arthritis Retinopathy Cough Pleural effusion Papule Gastrointestinal hemorrhage Subcutaneous nodule Vasculitis Aortic regurgitation Cranial nerve paralysis Venous thrombosis Encephalitis Pleuritis Erythema nodosum Multiple joint dislocation Pancytopenia Abnormality of eye movement Cirrhosis Hematuria Ascites Abnormal bleeding Syncope Cyanosis Epistaxis Aggressive behavior Hydrops fetalis Bone pain Lymphopenia Osteolysis Oculomotor apraxia Leukopenia Increased susceptibility to fractures Hypoalbuminemia Pallor Rigidity Immunologic hypersensitivity Orchitis Chorioretinitis Optic neuritis Anterior uveitis Posterior uveitis Iridocyclitis Increased inflammatory response Iritis Retrobulbar optic neuritis Superficial thrombophlebitis Difficulty walking Panuveitis Genital ulcers Epididymitis Decreased level of D-mannose in urine Hypopyon Hydrocephalus Edema Thrombocytopenia Thoracic platyspondyly Laryngeal stenosis Menorrhagia Abnormality of glycosphingolipid metabolism Emotional lability Impotence Megalencephaly Motor deterioration Upper motor neuron dysfunction Progressive psychomotor deterioration Cherry red spot of the macula Impaired thermal sensitivity Hypohidrosis Low-set ears Brachydactyly Frontal bossing Abnormality of the skeletal system Talipes equinovarus Recurrent infections Hypospadias Pneumonia Fasciculations Chronic diarrhea Respiratory failure Brisk reflexes Hyperactivity Hypoglycemia Hepatic failure Generalized muscle weakness Aciduria Decreased liver function Poor suck Apathy Polycythemia Urinary incontinence Hypothermia Organic aciduria Severe lactic acidosis Prolonged prothrombin time Vegetative state Methemoglobinemia Recurrent encephalopathy Hyperhidrosis Brachycephaly Mandibular prognathia Aplasia/Hypoplasia of the ulna Bell-shaped thorax Flat occiput Spondyloepiphyseal dysplasia Tibial bowing Progressive spasticity Atonic seizures Short humerus Loss of speech Radial bowing Elbow dislocation Short femur 11 pairs of ribs Fused cervical vertebrae Lethal skeletal dysplasia Coronal cleft vertebrae Intestinal pseudo-obstruction Fibular aplasia Long clavicles Oral-pharyngeal dysphagia Short metatarsal Polyhydramnios Encephalocele Deeply set eye Narrow chest Poor speech Talipes Inability to walk Premature birth Short metacarpal Limb undergrowth Rhizomelia Disproportionate short-limb short stature Sinusitis Aspiration Muscle stiffness Recurrent pneumonia Absence seizures Joint dislocation Abnormality of the outer ear Drooling Abnormality of the thorax Pulmonary fibrosis Atrial fibrillation Limited shoulder movement Frontal hirsutism Optic nerve compression Progressive flexion contractures Thickened ribs Dermatan sulfate excretion in urine Abnormality of the acetabulum Abnormality of mucopolysaccharide metabolism Abnormality of the tonsils Urinary glycosaminoglycan excretion Exercise-induced muscle stiffness Dilated third ventricle Abnormality of the breast Small abnormally formed scapulae Short tubular bones of the hand Abnormality of lysosomal metabolism Posterior scalloping of vertebral bodies Abnormality of the skull base Cervical instability Delayed menarche Abnormal metaphyseal trabeculation Platybasia Flared iliac wings Sagittal craniosynostosis Shield chest Nasal obstruction Myelopathy Abnormal cornea morphology Abnormal diaphysis morphology Carpal bone hypoplasia Wide cranial sutures Hernia of the abdominal wall Peripheral edema Corneal crystals Abnormality of the radius Abnormality of the optic disc Abnormality of the gingiva Hip subluxation J-shaped sella turcica Heparan sulfate excretion in urine Abnormality of the sella turcica Abnormality of femoral epiphysis Dilation of lateral ventricles Sensory impairment Peripheral axonal neuropathy Polymicrogyria Nephropathy Polyneuropathy Coma Muscle cramps Abnormal cerebellum morphology Increased serum lactate Anal atresia Specific learning disability Amenorrhea Cerebral calcification Pigmentary retinopathy Generalized-onset seizure Bilateral sensorineural hearing impairment Nephrotic syndrome Status epilepticus Ichthyosis Congenital cataract Anterior scalloping of vertebral bodies Abnormality of the humeral epiphysis Abnormality of cranial sutures Abnormality of the glenoid fossa Abnormality of the lumbar spine Abnormality of glycosaminoglycan metabolism Widely patent coronal suture Increased size of nasopharyngeal adenoids Contractures of the joints of the upper limbs Abnormality of the styloid process of ulna Ventriculomegaly Arthrogryposis multiplex congenita Cerebral atrophy Hyporeflexia Rod-cone dystrophy Hypogonadism EEG abnormality Apnea Abnormality of the pinna Dilated cardiomyopathy Cor pulmonale Sparse pubic hair Increased antibody level in blood Sleep myoclonus Erlenmeyer flask deformity of the femurs Decreased beta-glucocerebrosidase protein and activity Hematological neoplasm Horizontal supranuclear gaze palsy Cardiac valve calcification Abnormality of ion homeostasis Abnormality of the acoustic reflex Anteverted nares Abnormal saccadic eye movements Hyperkeratosis Retrognathia Conductive hearing impairment Camptodactyly of finger Pectus carinatum Dolichocephaly Platyspondyly Hypermetropia Orthopnea Abnormal thrombosis Limb muscle weakness Thoracic kyphosis Petechiae Interstitial pulmonary abnormality Pericardial effusion Abnormal retinal morphology Lower limb hyperreflexia Abnormality of the sternum Bulbar palsy Hepatocellular carcinoma Slow saccadic eye movements Generalized osteosclerosis Vertebral compression fractures Hypercoagulability Multiple myeloma Abnormality of the spleen Avascular necrosis of the capital femoral epiphysis Restrictive deficit on pulmonary function testing Protein-losing enteropathy Astrocytosis Synophrys Lower limb muscle weakness Broad ribs Obstructive sleep apnea Hyperactive deep tendon reflexes Spinal canal stenosis Rhinitis Protuberant abdomen Peripheral visual field loss Blepharitis Papilledema Chronic sinusitis Multiple joint contractures Spinal cord compression Diastasis recti Hypoplastic iliac wing Abnormality of the ulna Dysostosis multiplex Tracheal stenosis Hydrocele testis Communicating hydrocephalus Arthropathy Toe walking Astigmatism Abnormal vertebral morphology Retinal degeneration Wide nose Asthma Limitation of joint mobility Progressive visual loss Abnormality of the ribs Lower limb spasticity Thickened skin Short ribs Heart murmur Elbow flexion contracture Congenital hip dislocation Knee flexion contracture Coxa valga Opacification of the corneal stroma Abnormality of the metacarpal bones Coarse hair Back pain Acute episodes of neuropathic symptoms


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