Hyperreflexia, and Nyctalopia

Diseases related with Hyperreflexia and Nyctalopia

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


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Low match POLYNEUROPATHY-HEARING LOSS-ATAXIA-RETINITIS PIGMENTOSA-CATARACT SYNDROME


Fiskerstrand type peripheral neuropathy is a slowly-progressive Refsum-like disorder associating signs of peripheral neuropathy with late-onset hearing loss, cataract and pigmentary retinopathy that become evident during the third decade of life.

POLYNEUROPATHY-HEARING LOSS-ATAXIA-RETINITIS PIGMENTOSA-CATARACT SYNDROME Is also known as peripheral neuropathy, fiskerstrand type|pharc syndrome

Related symptoms:

  • Seizures
  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about POLYNEUROPATHY-HEARING LOSS-ATAXIA-RETINITIS PIGMENTOSA-CATARACT SYNDROME

Low match RETINITIS PIGMENTOSA


Retinitis pigmentosa (RP) is an inherited retinal dystrophy leading to progressive loss of the photoreceptors and retinal pigment epithelium and resulting in blindness usually after several decades.

Related symptoms:

  • Intellectual disability
  • Nystagmus
  • Sensorineural hearing impairment
  • Cataract
  • Visual impairment


SOURCES: ORPHANET MENDELIAN

More info about RETINITIS PIGMENTOSA

Low match SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT; SPG3A


The hereditary spastic paraplegias are a group of clinically and genetically diverse disorders characterized by progressive, usually severe, lower extremity spasticity; see reviews of Fink et al. (1996) and Fink (1997).SPG is classified according to both the mode of inheritance (autosomal dominant, autosomal recessive (see {270800}), and X-linked (see {303350})) and whether progressive spasticity occurs in isolation ('uncomplicated SPG') or with other neurologic abnormalities ('complicated SPG'), including optic neuropathy, retinopathy, extrapyramidal disturbance, dementia, ataxia, ichthyosis, mental retardation, and deafness. The major neuropathologic feature of autosomal dominant, uncomplicated SPG is axonal degeneration that is maximal in the terminal portions of the longest descending and ascending tracts (crossed and uncrossed corticospinal tracts to the legs and fasciculus gracilis, respectively). Spinocerebellar fibers are involved to a lesser extent. Since the description of 'pure' hereditary spastic paraparesis of late onset by Strumpell (1904), many 'complicated' forms of the disorder have been reported and the question as to whether a 'pure' form exists has been raised off and on. Probably in large part because of their exceptional length, the pyramidal tracts are unusually vulnerable to both acquired and genetic derangement. Although a majority of reported families have displayed recessive inheritance, 10 to 30% of families have a dominant pattern and in fact recessive inheritance of a 'pure' spastic paraplegia may be rare. Genetic Heterogeneity of Autosomal Dominant Spastic ParaplegiaIn addition to SPG3A, other forms of autosomal dominant spastic paraplegia for which the molecular basis is known include SPG4 (OMIM ), caused by mutation in the SPAST gene (OMIM ) on 2p22; SPG6 (OMIM ), caused by mutation in the NIPA1 gene (OMIM ) on 15q11; SPG8 (OMIM ), caused by mutation in the KIAA0196 gene (OMIM ) on 8q24; SPG9A (OMIM ), caused by mutation in the ALDH18A1 gene (OMIM ) on 10q24; SPG10 (OMIM ), caused by mutation in the KIF5A gene (OMIM ) on 12q13; SPG12 (OMIM ), caused by mutation in the RTN2 gene (OMIM ) on 19q13; SPG13 (OMIM ), caused by mutation in the SSPD1 gene (OMIM ) on 2q33.1; SPG31 (OMIM ), caused by mutation in the REEP1 gene (OMIM ) on 2p11; SPG33 (OMIM ), caused by mutation in the ZFYVE27 gene (OMIM ) on 10q24; SPG72 (OMIM ), caused by mutation in the REEP2 gene (OMIM ) on 5q31; and SPG73 (OMIM ), caused by mutation in the CPT1C gene (OMIM ) on 19q13.Autosomal dominant spastic paraplegia has been mapped to chromosomes 9q (SPG19 ), 1p31-p21 (SPG29 ), 12q23-q24 (SPG36 ), 8p21.1-q13.3 (SPG37 ), 4p16-p15 (SPG38 ), and 11p14.1-p11.2 (SPG41 ).

SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT; SPG3A Is also known as spg3|fsp1|strumpell disease|familial spastic paraplegia, autosomal dominant, 1

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT; SPG3A

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Low match NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1; NBIA1


Neurodegeneration with brain iron accumulation is a genetically heterogeneous disorder characterized by progressive iron accumulation in the basal ganglia and other regions of the brain, resulting in extrapyramidal movements, such as parkinsonism and dystonia. Age at onset, severity, and cognitive involvement are variable (review by Gregory et al., 2009).Panthothenate kinase-associated neurodegeneration has been classified clinically as 'classic,' 'atypical,' or 'intermediate.' In the classic form, patients present within the first decade of life with rapidly progressing disease and loss of ambulation approximately 15 years later. In the atypical form, patients have onset in the second decade with slow progression and maintain independent ambulation after 15 years. In the intermediate form, patients have early onset and slow progression or later onset and rapid progression. Patients with early onset tend to develop pigmentary retinopathy, whereas those with later onset tend to have speech disorders and psychiatric features. All patients have the 'eye of the tiger' sign on brain MRI (Hayflick et al., 2003; Pellecchia et al., 2005).Kumar et al. (2006) noted that the 'eye of the tiger' sign is not pathognomonic for PANK2 mutations. They reported 2 unrelated adult patients with cognitive dysfunction who had the characteristic sign on MRI but did not have mutations in the PANK2 gene.Gregory et al. (2009) provided a detailed review of the different forms of neurodegeneration with brain iron accumulation.In addition, some patients with Kufor-Rakeb syndrome (OMIM ), also known as Parkinson disease-9 (PARK9), have iron deposition in the basal ganglia. Genetic Heterogeneity of Neurodegeneration with Brain Iron AccumulationNeurodegeneration with brain iron accumulation is an umbrella term that encompasses a group of genetically heterogeneous disorders. See also NBIA2A (OMIM ) and NBIA2B (OMIM ), both caused by mutation in the PLA2G6 gene (OMIM ); NBIA3 (OMIM ), caused by mutation in the FTL gene (OMIM ); NBIA4 (OMIM ), caused by mutation in the C19ORF12 gene (OMIM ); NBIA5 (OMIM ), caused by mutation in the WDR45 gene (OMIM ); NBIA6 (OMIM ), caused by mutation in the COASY gene (OMIM ); NBIA7 (OMIM ), caused by mutation in the REPS1 gene (OMIM ); and NBIA8 (OMIM ), caused by mutation in the CRAT gene (OMIM ).See review of Schneider and Bhatia (2012) on syndromes of neurodegeneration with brain iron accumulation, including Kufor-Rakeb disease (OMIM ) and aceruloplasminemia (OMIM ).

NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1; NBIA1 Is also known as hallervorden-spatz disease|pkan|pkan neuroaxonal dystrophy, juvenile-onset|pantothenate kinase-associated neurodegeneration

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ataxia
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1; NBIA1

Low match ASPARTYLGLUCOSAMINURIA; AGU


Aspartylglucosaminuria is a severe autosomal recessive lysosomal storage disorder that involves the central nervous system and causes skeletal abnormalities as well as connective tissue lesions. The most characteristic feature is progressive mental retardation. The disorder is caused by deficient activity of the lysosomal enzyme glycosylasparaginase, which results in body fluid and tissue accumulation of a series of glycoasparagines, i.e., glycoconjugates with an aspartylglucosamine moiety at the reducing end. AGU belongs to the group of disorders commonly referred to as the Finnish disease heritage (summary by Mononen et al., 1993 and Arvio and Arvio, 2002).

ASPARTYLGLUCOSAMINURIA; AGU Is also known as glycoasparaginase|aga deficiency|aspartylglucosaminidase deficiency|aspartylglycosaminuria|glycosylasparaginase deficiency

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ASPARTYLGLUCOSAMINURIA; AGU

Low match HURLER-SCHEIE SYNDROME


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

Low match USHER SYNDROME TYPE 3


Usher syndrome type III is characterized by postlingual, progressive hearing loss, variable vestibular dysfunction, and onset of retinitis pigmentosa symptoms, including nyctalopia, constriction of the visual fields, and loss of central visual acuity, usually by the second decade of life (Karjalainen et al., 1985; Pakarinen et al., 1995).For a discussion of phenotypic heterogeneity of Usher syndrome, see USH1 (OMIM ). Genetic Heterogeneity of Usher syndrome Type IIIUsher syndrome type IIIB (OMIM ) is caused by mutation in the HARS gene (OMIM ) on chromosome 5q31.3.

USHER SYNDROME TYPE 3 Is also known as ush3|usher syndrome, type iii

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Neoplasm
  • Sensorineural hearing impairment
  • Cataract


SOURCES: ORPHANET OMIM MENDELIAN

More info about USHER SYNDROME TYPE 3

Low match MYOPATHY, TUBULAR AGGREGATE, 1; TAM1


Tubular aggregates in muscle, first described by Engel (1964), are structures of variable appearance consisting of an outer tubule containing either one or more microtubule-like structures or amorphous material. They are a nonspecific pathologic finding that may occur in a variety of circumstances, including alcohol- and drug-induced myopathies, exercise-induced cramps or muscle weakness, and inherited myopathies. Tubular aggregates are derived from the sarcoplasmic reticulum (Salviati et al., 1985) and are believed to represent an adaptive mechanism aimed at regulating an increased intracellular level of calcium in order to prevent the muscle fibers from hypercontraction and necrosis (Martin et al., 1997; Muller et al., 2001). Genetic Heterogeneity of Tubular Aggregate MyopathySee also TAM2 (OMIM ), caused by mutation in the ORAI1 gene (OMIM ) on chromosome 12q24.

MYOPATHY, TUBULAR AGGREGATE, 1; TAM1 Is also known as tubular aggregate myopathy|myopathy, tubular aggregate|tam

Related symptoms:

  • Muscle weakness
  • Ptosis
  • Flexion contracture
  • Dysarthria
  • Fatigue


SOURCES: OMIM MENDELIAN

More info about MYOPATHY, TUBULAR AGGREGATE, 1; TAM1

Low match ATAXIA WITH VITAMIN E DEFICIENCY


Ataxia with vitamin E deficiency (AVED) is a neurodegenerative disease belonging to the inherited cerebellar ataxias. It is mainly characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and is associated with a marked deficiency in vitamin E.

ATAXIA WITH VITAMIN E DEFICIENCY Is also known as familial isolated vitamin e deficiency|aved|ataxia with isolated vitamin e deficiency|isolated vitamin e deficiency|friedreich-like ataxia|ataxia, friedreich-like, with selective vitamin e deficiency

Related symptoms:

  • Scoliosis
  • Ataxia
  • Nystagmus
  • Muscle weakness
  • Spasticity


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ATAXIA WITH VITAMIN E DEFICIENCY

Top 5 symptoms//phenotypes associated to Hyperreflexia and Nyctalopia

Symptoms // Phenotype % cases
Gait disturbance Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Rod-cone dystrophy Common - Between 50% and 80% cases
Blindness Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Intellectual disability

Uncommon Symptoms - Between 30% and 50% cases


Visual impairment Cataract Dysarthria Visual loss Tremor Nystagmus Spasticity Cognitive impairment Sensorineural hearing impairment Abnormality of retinal pigmentation Mental deterioration Developmental regression Constipation Short stature Scoliosis Lower limb muscle weakness Motor delay Cardiomyopathy Muscle weakness Seizures Global developmental delay Peripheral neuropathy Pes cavus Optic atrophy Generalized myoclonic seizures Dysmetria Kyphosis Involuntary movements Retinal degeneration Progressive night blindness Gait ataxia Abnormal pyramidal sign Hyporeflexia Areflexia Delayed speech and language development Neurological speech impairment Ophthalmoplegia Recurrent respiratory infections Dementia Elevated serum creatine phosphokinase Hepatomegaly Myopathy Flexion contracture Short neck Respiratory insufficiency Polyneuropathy Dystonia Fatigue Diarrhea Limb muscle weakness Easy fatigability Anteverted nares Depressivity Peripheral visual field loss

Rare Symptoms - Less than 30% cases


Hallucinations Erythema Falls Platyspondyly Gastroesophageal reflux Hypertrophic cardiomyopathy Feeding difficulties in infancy Wide nose Dysphagia Weight loss Hyperactivity Failure to thrive Feeding difficulties Behavioral abnormality Carious teeth Astigmatism Slurred speech Hepatosplenomegaly Personality changes Progressive visual loss Microcephaly Abnormal facial shape Muscular hypotonia Depressed nasal bridge Elbow flexion contracture Generalized hirsutism Hip dysplasia Muscle cramps Iris hypopigmentation Hemianopia Splenomegaly Cerebral atrophy Pigmentary retinopathy Cachexia Anxiety Hernia Hyperkinesis Inguinal hernia Delayed skeletal maturation Malabsorption Myoclonus Frequent falls Hirsutism Abnormality of visual evoked potentials Coarse facial features Macroglossia Lower limb spasticity Myalgia Respiratory distress Skeletal muscle atrophy Widely spaced teeth Visual field defect Retinopathy Achilles tendon contracture Abnormality of the nervous system Ptosis Abnormal cochlea morphology Intellectual disability, mild Vestibular dysfunction Hemiplegia/hemiparesis Photophobia Abdominal pain Dysostosis multiplex Congestive heart failure Headache Obesity Hypogonadism Abnormal electroretinogram Glaucoma Type II diabetes mellitus Abnormality of the dentition Confusion Peripheral axonal neuropathy Ichthyosis Sensory neuropathy Cerebellar atrophy Babinski sign Psychosis Ophthalmoparesis Hypertelorism Spastic gait Diabetes mellitus Growth abnormality Gingival overgrowth Arrhythmia Decreased nerve conduction velocity Schizophrenia Clonus Abnormal nerve conduction velocity Posterior subcapsular cataract Clumsiness Hypertonia Urinary incontinence External ophthalmoplegia Conductive hearing impairment Goiter Chronic kidney disease Atrioventricular block Hemiparesis Atrial fibrillation Ischemic stroke Hypertrichosis Purpura Cardiac arrest Truncal ataxia Cerebral visual impairment EMG abnormality Hypogonadotrophic hypogonadism Type I diabetes mellitus Exercise intolerance Macular degeneration Decreased body weight Pancreatitis Status epilepticus Reduced tendon reflexes Anorexia Ragged-red muscle fibers Hypopigmented skin patches Mutism Left ventricular hypertrophy Ventricular hypertrophy Protruding ear Pulmonary arterial hypertension Cerebellar hypoplasia Hypertension Fever Ventriculomegaly Vomiting Renal insufficiency Encephalopathy Osteoporosis Pain Cerebral cortical atrophy Autism Hypothyroidism Dyspnea Acidosis Jaundice Anemia Growth delay Proteinuria Abnormality of cranial sutures Posterior scalloping of vertebral bodies Abnormality of the skull base Abnormality of the sella turcica Abnormal metaphyseal trabeculation Abnormality of femoral epiphysis Anterior scalloping of vertebral bodies Abnormality of the glenoid fossa Abnormality of the humeral epiphysis 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 EEG abnormality Apnea Nephrotic syndrome Increased serum lactate Coma Postural instability Abnormal cerebellum morphology Sudden cardiac death Sensory impairment Migraine Memory impairment Polymicrogyria Specific learning disability Amenorrhea Cerebral calcification Abnormality of the cardiovascular system Generalized-onset seizure Bilateral sensorineural hearing impairment Nephropathy Nausea Abnormality of the pinna Generalized tonic-clonic seizures Bilateral ptosis Abnormality of the liver Attention deficit hyperactivity disorder Stroke Dilated cardiomyopathy Pruritus Lethargy Lactic acidosis Arthrogryposis multiplex congenita Congenital cataract Nausea and vomiting Delayed puberty Anal atresia Paresthesia Vertigo Hypercalciuria Progressive external ophthalmoplegia Hemiplegia Spotty hypopigmentation Morphological abnormality of the inner ear Morphological abnormality of the vestibule of the inner ear Bilateral intracranial calcifications Episodic quadriplegia Abnormality of acid-base homeostasis Homonymous hemianopia Paralytic ileus Abnormal mitochondrial shape Cochlear degeneration Cochlear malformation Edema of the dorsum of hands Abnormal mitochondrial morphology Paronychia Abnormal macular morphology Neoplasm Hemeralopia Crohn's disease Abnormality of the cerebellar vermis Psychotic episodes Tubulointerstitial abnormality Renal Fanconi syndrome Auditory hallucinations Amaurosis fugax Gastroparesis Spontaneous hematomas Leber optic atrophy Persistence of primary teeth Writer's cramp Prominent ear helix Reduced visual acuity Psychomotor deterioration Abnormal pupil morphology Vitamin E deficiency Abetalipoproteinemia Xanthelasma Increased LDL cholesterol concentration Fat malabsorption Spinocerebellar tract degeneration Steatorrhea Dysdiadochokinesis Hypercholesterolemia Hypertriglyceridemia Weakness of the intrinsic hand muscles Type 2 muscle fiber atrophy Hyporeflexia of lower limbs Exercise-induced myalgia Abnormality of the eye Areflexia of lower limbs Limb-girdle muscle weakness Proximal amyotrophy Difficulty running Centrally nucleated skeletal muscle fibers Increased variability in muscle fiber diameter Gowers sign Muscle stiffness Progressive muscle weakness Proximal muscle weakness Vestibular hypofunction High hypermetropia Scotoma Progressive hearing impairment Muscle fiber atrophy Dysesthesia Aortic aneurysm Prolonged QT interval Drowsiness Distal arthrogryposis Pulmonary embolism Primary adrenal insufficiency Abnormality of immune system physiology Thyroiditis Rhabdomyolysis Hyperthyroidism Basal ganglia calcification Glomerulopathy Progressive sensorineural hearing impairment Vertebral fusion Multiple lipomas Hyperkalemia Hashimoto thyroiditis Dysphasia Aphasia Bundle branch block Adrenal insufficiency Overlapping toe Abnormality of neuronal migration Focal segmental glomerulosclerosis Mask-like facies Bifid scrotum Aplasia/Hypoplasia of the cerebellum Intestinal obstruction Hyponatremia Abnormality of mitochondrial metabolism Atopic dermatitis Neonatal hypoglycemia Motor polyneuropathy Cerebral ischemia Episodic vomiting Abnormality of the renal tubule Ileus Proximal tubulopathy Abnormality of peripheral nerve conduction Retinal pigment epithelial atrophy Speech apraxia Left ventricular failure Seborrheic dermatitis Stroke-like episode Anterior hypopituitarism Gait imbalance Reduced consciousness/confusion Wolff-Parkinson-White syndrome Vitiligo Increased CSF lactate Visual hallucinations Tubulointerstitial nephritis Renal tubular dysfunction Aortic dissection Facial diplegia Cardiorespiratory arrest Delusions Transient ischemic attack Short tubular bones of the hand Mitochondrial myopathy Hypoparathyroidism Heart block Xerostomia Abnormality of lysosomal metabolism Coarse hair Small abnormally formed scapulae Muscle fiber splitting Palilalia Aceruloplasminemia Eye of the tiger anomaly of globus pallidus Cerebral degeneration Eyelid apraxia Equinovarus deformity Motor tics Stooped posture Obsessive-compulsive trait Anarthria Mood swings Facial grimacing Orofacial dyskinesia Abnormality of the skeletal system Tics Acanthocytosis Shuffling gait Abnormal cranial nerve morphology Generalized dystonia Blepharospasm Loss of speech Abnormality of the musculature Global brain atrophy Decreased muscle mass Alzheimer disease Obsessive-compulsive behavior Oral-pharyngeal dysphagia Generalized hypotonia Edema Akinesia Progressive neurologic deterioration Palpebral edema Thickened calvaria Muscle fibrillation Pathologic fracture Emotional lability Acne Intellectual disability, progressive Hoarse voice Aspiration Hydrops fetalis Chronic diarrhea Mitral regurgitation Thick lower lip vermilion Intellectual disability, severe Overgrowth Neuronal loss in central nervous system Gliosis Ascites Neutropenia Wide mouth Joint laxity Hydronephrosis High forehead Brachycephaly Abnormality of metabolism/homeostasis Recurrent infections Long philtrum Impulsivity Dysphonia Macroorchidism Abnormality of the retinal vasculature Increased body weight Decreased liver function Spastic tetraplegia Tetraplegia Paraplegia Infertility Abnormality of the cerebral white matter Spastic paraplegia Paralysis Pneumonia Syndactyly Hypoplasia of the corpus callosum Abnormality of the testis Spastic paraparesis Atypical scarring of skin Keratoconus Hyperinsulinemia Hypoplasia of penis Wide nasal bridge Stuttering Subcapsular cataract Hammertoe Sensorimotor neuropathy Broad-based gait Intention tremor Distal sensory impairment Distal amyotrophy Paraparesis Cerebral palsy Torticollis Talipes equinovarus Joint dislocation Hyperpigmentation of the skin Stereotypy Choreoathetosis Apraxia Bradykinesia Brain atrophy Parkinsonism Neurodegeneration Abnormality of skin pigmentation Abnormality of movement Abnormality of the foot Rigidity Long-tract signs Hand polydactyly Degeneration of the lateral corticospinal tracts Neurogenic bladder Distal lower limb amyotrophy Taurodontia Urinary bladder sphincter dysfunction Poor coordination Optic neuropathy Impaired vibration sensation in the lower limbs Progressive spasticity Axonal degeneration Urinary urgency Impaired vibratory sensation Postural tremor Beaking of vertebral bodies Broad face Abnormality of the breast Hypoplastic iliac wing Shield chest Sagittal craniosynostosis Flared iliac wings Cor pulmonale Dilation of lateral ventricles Sparse pubic hair Broad ribs Sparse axillary hair Communicating hydrocephalus Hydrocele testis Tracheal stenosis Abnormality of the ulna Diastasis recti Myelopathy Spinal cord compression Chronic sinusitis Obstructive sleep apnea Papilledema Blepharitis Protuberant abdomen Rhinitis Spinal canal stenosis Hyperactive deep tendon reflexes Arthropathy Abnormal heart valve morphology Exertional dyspnea Restrictive ventilatory defect Nasal obstruction Abnormal cornea morphology Toe walking Delayed menarche Dilated third ventricle Exercise-induced muscle stiffness Abnormality of the tonsils Limited shoulder movement Abnormality of mucopolysaccharide metabolism Abnormality of the acetabulum Dermatan sulfate excretion in urine Thickened ribs Progressive flexion contractures Optic nerve compression Frontal hirsutism Cervical instability Urinary glycosaminoglycan excretion Hernia of the abdominal wall Abnormal diaphysis morphology Heparan sulfate excretion in urine Mitral valve calcification J-shaped sella turcica Hip subluxation Abnormality of the gingiva Abnormality of the optic disc Aortic valve calcification Abnormality of the radius Corneal crystals Peripheral edema Wide cranial sutures Platybasia Carpal bone hypoplasia Multiple joint contractures Abnormality of dental morphology Spondylolisthesis Micrognathia Craniosynostosis Joint stiffness Umbilical hernia Arthralgia Skeletal dysplasia Retrognathia Osteopenia Kyphoscoliosis Proptosis Hyperkeratosis Severe short stature Macrocephaly Aspartylglucosaminuria Pectus carinatum Angiofibromas Oligosacchariduria Spondylolysis Angiokeratoma corporis diffusum Methemoglobinemia Angiokeratoma Cranial asymmetry Hypoplastic frontal sinuses Adenoma sebaceum Facial edema Vacuolated lymphocytes Visceromegaly Abnormality of the ovary Camptodactyly of finger Corneal opacity Heart murmur Thickened skin Chronic otitis media Back pain Increased intracranial pressure Arnold-Chiari malformation Abnormality of the metacarpal bones Opacification of the corneal stroma Abnormality of dental enamel Coxa valga Knee flexion contracture Congenital hip dislocation Short ribs Aortic valve stenosis Abnormal vertebral morphology Abnormal form of the vertebral bodies Dolichocephaly Recurrent otitis media Lumbar hyperlordosis Abnormality of the ribs Cardiomegaly Microdontia Otitis media Limitation of joint mobility Asthma Sleep disturbance Thick vermilion border Genu valgum Synophrys Hypermetropia Tendon xanthomatosis



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