Hyperreflexia, and Joint hyperflexibility

Diseases related with Hyperreflexia and Joint hyperflexibility

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

Top matches:

Autosomal recessive spastic paraplegia type 53 (SPG53) is a very rare, complex type of hereditary spastic paraplegia characterized by early-onset spastic paraplegia (with spasticity in the lower extremities that progresses to the upper extremities) associated with developmental and motor delay, mild to moderate cognitive and speech delay, skeletal dysmorphism (e.g. kyphosis and pectus), hypertrichosis and mildly impaired vibration sense. SPG53 is due to mutations in the VPS37A gene (8p22) encoding vacuolar protein sorting-associated protein 37A.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 53 Is also known as spg53

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Failure to thrive
  • Spasticity


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 53

Medium match ACHONDROPLASIA

Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Muscular hypotonia
  • Depressed nasal bridge


SOURCES: ORPHANET OMIM MENDELIAN

More info about ACHONDROPLASIA

Christianson syndrome is a very rare form of syndromic intellectual deficit characterized by microcephaly, severe developmental delay or regression, hypotonia, abnormal movements, and early-onset seizures.

CHRISTIANSON SYNDROME Is also known as x-linked angelman-like syndrome|x-linked intellectual disability, south african type|mental retardation, microcephaly, epilepsy, and ataxia syndrome|x-linked intellectual disability-craniofacial dysmorphism-epilepsy-ophthalmoplegia-cerebellar atrophy synd

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CHRISTIANSON SYNDROME

Other less relevant matches:

Primary CoQ10 deficiency is a rare, clinically heterogeneous autosomal recessive disorder caused by mutation in any of the genes encoding proteins directly involved in the synthesis of coenzyme Q (review by Quinzii and Hirano, 2011). Coenzyme Q10 (CoQ10), or ubiquinone, is a mobile lipophilic electron carrier critical for electron transfer by the mitochondrial inner membrane respiratory chain (Duncan et al., 2009).The disorder has been associated with 5 major phenotypes, but the molecular basis has not been determined in most patients with the disorder and there are no clear genotype/phenotype correlations. The phenotypes include an encephalomyopathic form with seizures and ataxia (Ogasahara et al., 1989); a multisystem infantile form with encephalopathy, cardiomyopathy and renal failure (Rotig et al., 2000); a predominantly cerebellar form with ataxia and cerebellar atrophy (Lamperti et al., 2003); Leigh syndrome with growth retardation (van Maldergem et al., 2002); and an isolated myopathic form (Lalani et al., 2005). The correct diagnosis is important because some patients may show a favorable response to CoQ10 treatment. Genetic Heterogeneity of Primary Coenzyme Q10 DeficiencySee also COQ10D2 (OMIM ), caused by mutation in the PDSS1 gene (OMIM ) on chromosome 10p12; COQ10D3 (OMIM ), caused by mutation in the PDSS2 gene (OMIM ) on chromosome 6q21; COQ10D4 (OMIM ), caused by mutation in the COQ8 gene (ADCK3 ) on chromosome 1q42; COQ10D5 (OMIM ), caused by mutation in the COQ9 gene (OMIM ) on chromosome 16q21; COQ10D6 (OMIM ), caused by mutation in the COQ6 gene (OMIM ) on chromosome 14q24; COQ10D7 (OMIM ), caused by mutation in the COQ4 gene (OMIM ) on chromosome 9q34; and COQ10D8 (OMIM ), caused by mutation in the COQ7 gene (OMIM ) on chromosome 16p13.Secondary CoQ10 deficiency has been reported in association with glutaric aciduria type IIC (MADD ), caused by mutation in the ETFDH gene (OMIM ) on chromosome 4q, and with ataxia-oculomotor apraxia syndrome-1 (AOA1 ), caused by mutation in the APTX gene (OMIM ) on chromosome 9p13.

COENZYME Q10 DEFICIENCY, PRIMARY, 1; COQ10D1 Is also known as ubiquinone deficiency 1|coq10 deficiency, primary, 1|coq deficiency 1|coenzyme q deficiency 1

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about COENZYME Q10 DEFICIENCY, PRIMARY, 1; COQ10D1

2q32q33 microdeletion syndrome is a recently described syndrome characterized by a variable phenotype involving moderate to severe intellectual deficit, significant speech delay, persistent feeding difficulties, growth retardation and dysmorphic features.

2Q32Q33 MICRODELETION SYNDROME Is also known as monosomy 2q32-q33|2q32-q33 microdeletion syndrome|del(2)(q32q33)|chromosome 2q32-q33 deletion syndrome|monosomy 2q32q33|del(2)(q32)|monosomy 2q32

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about 2Q32Q33 MICRODELETION SYNDROME

Medium match ACHONDROPLASIA; ACH

Achondroplasia is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand (summary by Bellus et al., 1995).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: MESH OMIM MENDELIAN

More info about ACHONDROPLASIA; ACH

Glutaric aciduria II (GA2) is an autosomal recessively inherited disorder of fatty acid, amino acid, and choline metabolism. It differs from GA I (GA1 ) in that multiple acyl-CoA dehydrogenase deficiencies result in large excretion not only of glutaric acid, but also of lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids. GA II results from deficiency of any 1 of 3 molecules: the alpha (ETFA) and beta (ETFB) subunits of electron transfer flavoprotein, and electron transfer flavoprotein dehydrogenase (ETFDH). The clinical picture of GA II due to the different defects appears to be indistinguishable; each defect can lead to a range of mild or severe cases, depending presumably on the location and nature of the intragenic lesion, i.e., mutation, in each case (Goodman, 1993; Olsen et al., 2003).The heterogeneous clinical features of patients with MADD fall into 3 classes: a neonatal-onset form with congenital anomalies (type I), a neonatal-onset form without congenital anomalies (type II), and a late-onset form (type III). The neonatal-onset forms are usually fatal and are characterized by severe nonketotic hypoglycemia, metabolic acidosis, multisystem involvement, and excretion of large amounts of fatty acid- and amino acid-derived metabolites. Symptoms and age at presentation of late-onset MADD are highly variable and characterized by recurrent episodes of lethargy, vomiting, hypoglycemia, metabolic acidosis, and hepatomegaly often preceded by metabolic stress. Muscle involvement in the form of pain, weakness, and lipid storage myopathy also occurs. The organic aciduria in patients with the late-onset form of MADD is often intermittent and only evident during periods of illness or catabolic stress (summary by Frerman and Goodman, 2001).Importantly, riboflavin treatment has been shown to ameliorate the symptoms and metabolic profiles in many MADD patients, particularly those with type III, the late-onset and mildest form (Liang et al., 2009).

MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY; MADD Is also known as ema|ethylmalonic-adipicaciduria|glutaric aciduria ii|ga ii|glutaric acidemia ii|ga2

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY; MADD

Floating-Harbor syndrome is a genetic developmental disorder characterized by facial dysmorphism, short stature with delayed bone age, and expressive language delay.

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about FLOATING-HARBOR SYNDROME

Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, postnatal growth retardation and renal tubular dysfunction with chronic renal failure.

OCULOCEREBRORENAL SYNDROME OF LOWE Is also known as oculocerebrorenal dystrophy|phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency|oculo-cerebro-renal dystrophy|oculo-cerebro-renal syndrome|lowe disease|ocrl1|ocrl|ocr|lowe syndrome|phosphatidylinositol 4,5-bisphosphate 5-phosphatase deficiency|l

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about OCULOCEREBRORENAL SYNDROME OF LOWE

Medium match WILLIAMS SYNDROME

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

Top 5 symptoms//phenotypes associated to Hyperreflexia and Joint hyperflexibility

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Delayed speech and language development

Uncommon Symptoms - Between 30% and 50% cases

Strabismus

Common Symptoms - More than 50% cases

Short stature

Uncommon Symptoms - Between 30% and 50% cases

Clonus Abnormal facial shape Hearing impairment Macrocephaly Gastroesophageal reflux Dysarthria Gait disturbance Spasticity Microcephaly Motor delay Ventriculomegaly Cognitive impairment Failure to thrive Midface retrusion Pain Ataxia Hyperlordosis Joint stiffness Inguinal hernia Flexion contracture Dental malocclusion Anxiety Abnormality of the dentition Behavioral abnormality Scoliosis Chronic otitis media Cataract Feeding difficulties Malar flattening Intellectual disability, mild Micrognathia Kyphosis Sleep disturbance Muscular hypotonia Depressed nasal bridge Brachydactyly Feeding difficulties in infancy Frontal bossing Long face Clinodactyly of the 5th finger Infantile muscular hypotonia Deeply set eye Otitis media High forehead Thin upper lip vermilion Mandibular prognathia Depressivity Autism Encephalopathy Aggressive behavior Smooth philtrum Joint laxity Attention deficit hyperactivity disorder Arthralgia Nystagmus Abnormality of pelvic girdle bone morphology Absent speech Recurrent otitis media Poor speech Renal insufficiency Anemia Neurological speech impairment Aciduria Abnormality of the voice Nephrocalcinosis Metabolic acidosis Malabsorption Hypertrophic cardiomyopathy Intrauterine growth retardation Abnormality of the skeletal system Proteinuria Obesity Umbilical hernia Acidosis Conductive hearing impairment Intellectual disability, moderate Hypertension Abnormality of the metaphysis Respiratory distress Long philtrum Open mouth Abnormal form of the vertebral bodies Dental crowding Constipation Cryptorchidism Wide nasal bridge Elevated serum creatine phosphokinase

Rare Symptoms - Less than 30% cases

Failure to thrive in infancy Short palpebral fissure Hemiparesis Broad thumb Glomerulonephritis Long eyelashes Low-set ears Abnormality of dental morphology Ragged-red muscle fibers Restlessness Short columella Neoplasm Short philtrum Posteriorly rotated ears Fine hair Glomerulopathy Osteoporosis Osteopenia Prominent nasal bridge Broad forehead Abnormality of the cerebral white matter Hernia Hyperactivity Ptosis Myoglobinuria Thin vermilion border Bulbous nose Cleft palate High palate Glutaric aciduria Prominent nose Postnatal growth retardation Congenital cataract Weight loss Hypothyroidism Carious teeth Corneal opacity Protruding ear Irritability Low-set, posteriorly rotated ears Glaucoma Recurrent respiratory infections Visual impairment Atrial septal defect Abnormal heart morphology Delayed skeletal maturation Upslanted palpebral fissure Kyphoscoliosis Abnormality of the renal tubule Arthritis Wide mouth Craniosynostosis Camptodactyly of finger Small for gestational age Villous atrophy Broad nasal tip Enuresis Microdontia Hypoplasia of penis Coarctation of aorta Abnormality of the fingernails Celiac disease Genu valgum Everted lower lip vermilion Cleft lip Telecanthus Scarring Oral cleft Tetraparesis Osteoarthritis Recurrent urinary tract infections Back pain Tremor Respiratory insufficiency Myopathy Vomiting Congestive heart failure Headache Areflexia Lacrimation abnormality Full cheeks Apraxia Nausea and vomiting Increased serum lactate Patellar dislocation Cardiomegaly Multiple renal cysts Open bite Obsessive-compulsive behavior Hypercalciuria Abnormality of dental enamel Amblyopia Nephrolithiasis Dehydration Exercise intolerance Downturned corners of mouth Short long bone Dyslexia Adducted thumb Childhood onset short-limb short stature Bowel incontinence Dysphasia Long nose Abnormality of the ribs Happy demeanor Neonatal short-limb short stature Conspicuously happy disposition Sudden cardiac death Short palm Sensorineural hearing impairment Muscle weakness Micromelia Fatigue Lumbar hyperlordosis Mutism Narrow chest Stereotypy Spinal canal stenosis Involuntary movements Intellectual disability, profound Disproportionate short stature Limited elbow extension Abnormality of the elbow Flared metaphysis Genu varum Drooling Developmental regression Disproportionate short-limb short stature Acanthosis nigricans Thick eyebrow Narrow face Rhizomelia Abnormality of the foot Cardiomyopathy Obstructive sleep apnea Apnea Stroke Muscle cramps Pectus excavatum Lactic acidosis Dysphagia Postural instability Skeletal muscle atrophy Cerebral cortical atrophy Hyperhidrosis Gait ataxia Intellectual disability, severe Difficulty walking Macrotia Dystonia Respiratory failure Anteverted nares Hydrocephalus Hypertonia Severe short stature Cerebellar atrophy Rickets Oligosacchariduria Hyponatremia Self-injurious behavior Impaired visuospatial constructive cognition Chorioretinal dysplasia Reduced number of teeth Hypokalemia Abnormality of calcium-phosphate metabolism Calcification of the aorta Deep philtrum Flat occiput Hypercholesterolemia Neoplasm of the skin Azoospermia Aminoaciduria Elevated serum acid phosphatase Narrow palate Vitamin D deficiency Hypophosphatemia Proximal renal tubular acidosis Abnormal pupil morphology Generalized hypopigmentation Renal tubular dysfunction Atelectasis Taurodontia Hyperphosphaturia Periodontitis Hyperaldosteronism Abnormality of the gastric mucosa Gingivitis Joint contracture of the hand Renovascular hypertension Buphthalmos Abnormal social behavior Urogenital fistula Flat cornea Joint swelling Renal tubular acidosis Osteomalacia Abnormal joint morphology Cheilitis Hyperparathyroidism Supravalvular aortic stenosis Pathologic fracture Congenital glaucoma Keloids Diabetes insipidus Renal Fanconi syndrome Atypical scarring of skin Periorbital fullness Skin ulcer Enlarged joints Abnormality of the diencephalon Expressive language delay Short upper lip Spinal dysraphism Stiff neck Tethered cord Broad columella Medial flaring of the eyebrow Elfin facies Bilateral vocal cord paralysis Thyroid hemiagenesis Hyperextensibility of the finger joints Nystagmus-induced head nodding Speech apraxia 11 pairs of ribs Persistent left superior vena cava Overfriendliness Early onset of sexual maturation Dyssynergia Stellate iris Functional abnormality of male internal genitalia Descending aorta hypoplasia Short attention span Abnormality of the clavicle Cone-shaped epiphyses of the phalanges of the hand Lipoma Sprengel anomaly Vocal cord dysfunction Short clavicles Proportionate short stature Varicocele Pseudoarthrosis Abnormality of epiphysis morphology Neonatal hypotonia Hypoplasia of dental enamel Subcutaneous nodule Sparse scalp hair Abnormal bleeding Recurrent fractures Delayed eruption of teeth Unilateral renal hypoplasia Hematuria Joint hypermobility Myxomatous mitral valve degeneration Delayed puberty Platyspondyly Hip dislocation Paroxysmal bursts of laughter EEG abnormality Congenital pseudoarthrosis of the clavicle Reduced visual acuity Abnormal carotid artery morphology Hyporeflexia Thrombocytopenia Microphthalmia Blindness Mesocardia Generalized cerebral atrophy/hypoplasia Abnormal soft palate morphology Broad fingertip Curved fingers Enlarged naris Epididymal cyst Congenital posterior urethral valve Infantile hypercalcemia Dense posterior cortical cataract Benign neoplasm of the central nervous system Premature graying of hair Polyuria Preauricular pit Loss of consciousness Colonic diverticula Hallux valgus Renal duplication Vertebral segmentation defect Glucose intolerance Aplasia/Hypoplasia of the iris Abnormal endocardium morphology High hypermetropia Thyroid hypoplasia Prematurely aged appearance Retinal vascular tortuosity Increased nuchal translucency Vascular tortuosity Tracheoesophageal fistula Facial cleft Redundant skin Reduced bone mineral density Incoordination Polycystic ovaries Dysphonia Overriding aorta Cholelithiasis Hypercalcemia Hypoplastic toenails Radioulnar synostosis Precocious puberty Tubulointerstitial abnormality Portal hypertension Nephritis Abnormality of the ankles Unilateral renal agenesis Abnormal glucose tolerance Urethral stenosis Schizophrenia Subvalvular aortic stenosis Abnormal renal morphology Vocal cord paralysis Blue irides Hypoplasia of the zygomatic bone Chronic constipation Right ventricular hypertrophy Tubulointerstitial nephritis Down-sloping shoulders Peripheral pulmonary artery stenosis Large earlobe Abnormality of the neck Abnormality of the cerebral vasculature Cerebral ischemia Abnormality of refraction Decreased plasma carnitine Bladder diverticulum Abnormality of the vasculature Insomnia Rectal prolapse Parathyroid hyperplasia Phonophobia Abnormality of nervous system morphology Dysgraphia Megalocornea Abnormality of lipid metabolism Arterial stenosis Periorbital edema Pulmonary artery stenosis Peptic ulcer Cystic renal dysplasia Posterior embryotoxon Arnold-Chiari type I malformation Nevus flammeus Soft skin Poor coordination Arnold-Chiari malformation Ischemic stroke Food intolerance Abnormal cardiac septum morphology Coarse facial features Pes planus Abnormality of the kidney Autistic behavior Paralysis Blepharophimosis Pulmonic stenosis Abdominal pain Dysmetria Thick vermilion border Hypodontia Macroglossia Chest pain Vesicoureteral reflux Esotropia Micropenis Diabetes mellitus Tetralogy of Fallot Lentiglobus Periventricular cysts Elevated amniotic fluid alpha-fetoprotein Finger swelling Odontogenic neoplasm Elevated maternal serum alpha-fetoprotein Bicarbonaturia Abnormality of dentin Wrist swelling Cerebellar hypoplasia Hypoammonemia Gait imbalance Epicanthus Myopia Ventricular septal defect Short nose Patent ductus arteriosus Renal agenesis Abnormality of the cardiovascular system Aortic arch aneurysm Hypogonadotrophic hypogonadism Obsessive-compulsive trait Aortic valve stenosis Hoarse voice Increased bone mineral density Increased body weight Pointed chin Hemivertebrae Nocturia Spina bifida occulta Cutis laxa Abnormal dermatoglyphics Progressive hearing impairment Widely spaced teeth Bicuspid aortic valve Sacral dimple Gingival overgrowth Mitral regurgitation Pelvic kidney Coronary artery stenosis Narrow forehead Hypotelorism Mitral valve prolapse Abnormality of extrapyramidal motor function Hyperacusis Hypsarrhythmia Retinal arteriolar tortuosity Type II diabetes mellitus Myocardial infarction Ventricular hypertrophy Renal hypoplasia Renal artery stenosis Small nail Thick lower lip vermilion Abnormality of the bladder Synostosis of joints High pitched voice Wide anterior fontanel Impulsivity Broad-based gait Ectodermal dysplasia Nail dysplasia Febrile seizures Convex nasal ridge Decreased testicular size Thin skin Microretrognathia Arachnodactyly Oligodontia Tented upper lip vermilion Relative macrocephaly Dermal atrophy Overlapping toe Bilateral talipes equinovarus Wide nose Talipes Abnormality of digit Rapid neurologic deterioration Generalized amyotrophy Tubular atrophy Scanning speech Steroid-resistant nephrotic syndrome Recurrent myoglobinuria Exercise-induced myoglobinuria Crescentic glomerulonephritis Facial asymmetry Hypertelorism Downslanted palpebral fissures Talipes equinovarus Brachycephaly Narrow mouth Camptodactyly Sparse hair Myopathic facies Abnormality of the periventricular white matter Ophthalmoparesis Paraparesis Confusion Lymphoma Overgrowth Epidermal acanthosis Abnormal lung morphology Short toe Sleep apnea Abnormality of the nervous system Tinnitus Epiphyseal dysplasia Spondyloepiphyseal dysplasia Short femoral neck Tibial bowing Myeloid leukemia Neuroblastoma Leukemia Rigidity Narrow nose Overbite Self-mutilation Broad hallux phalanx Conical tooth Cleft soft palate Generalized osteoporosis Excessive salivation Pes valgus Skeletal dysplasia Toe clinodactyly Median cleft palate Large beaked nose Dacryocystitis Incomprehensible speech Narrow maxilla Narrow jaw Focal segmental glomerulosclerosis Glomerulosclerosis Spinal cord compression Severe global developmental delay Long thorax Aplasia/hypoplasia of the extremities Narrow sacroiliac notch Abnormality of the ilium Acromelia Abnormality of the eye Arthrogryposis multiplex congenita Large forehead Ophthalmoplegia Abnormality of eye movement Unsteady gait Urinary incontinence Epileptic encephalopathy Neuronal loss in central nervous system Diaphyseal thickening Mesomelia Decreased body weight Cortical dysplasia Pectus carinatum Spastic paraplegia Paraplegia Hypertrichosis Lower limb spasticity Impaired vibratory sensation Limb dystonia Elbow dislocation Impaired proprioception Hyperreflexia in upper limbs Abnormality of the auditory canal Upper limb hypertonia Limb undergrowth Bowing of the long bones Wormian bones Generalized-onset seizure Postnatal microcephaly Hyperextensible skin Specific learning disability Muscular hypotonia of the trunk Abnormal pyramidal sign Hepatic failure Nephropathy Progressive cerebellar ataxia Memory impairment Bilateral sensorineural hearing impairment Myoclonus Nephrotic syndrome Pancytopenia Status epilepticus Progressive neurologic deterioration Progressive muscle weakness Hypergonadotropic hypogonadism Oculomotor apraxia Hypogonadism Rod-cone dystrophy Truncal ataxia Decreased muscle mass Intellectual disability, progressive Aplasia/Hypoplasia of the corpus callosum Hyperkinesis Cachexia Abnormality of the thorax Aplasia/Hypoplasia of the cerebellum Slender finger Visual loss Atrophy/Degeneration affecting the brainstem Abnormality of the nose Inappropriate laughter Photosensitive tonic-clonic seizures Loss of ability to walk in first decade Optic atrophy Cerebral atrophy Hip contracture Megalencephaly Clubbing Hypoglycemic coma Acute pancreatitis Respiratory arrest Generalized aminoaciduria Oliguria Progressive spastic quadriplegia Personality disorder Nonketotic hypoglycemia Abnormal corpus callosum morphology Impaired mastication Limb tremor Renal cortical cysts Cataplexy Narcolepsy Gastrointestinal inflammation Loss of ability to walk Episodic vomiting Glutaric acidemia Progressive proximal muscle weakness Glycosuria Rhabdomyolysis Acute kidney injury Fatigable weakness Drowsiness Ketosis Cardiorespiratory arrest Proximal tubulopathy Ketonuria Excessive daytime somnolence Chronic fatigue Organic aciduria Hypoketotic hypoglycemia Exercise-induced myalgia Medulloblastoma Arthralgia of the hip Increased muscle lipid content Restrictive ventilatory defect Interphalangeal joint contracture of finger Hypermetropia Hirsutism Small hand Hypoplasia of the maxilla Triangular face Underdeveloped nasal alae Low posterior hairline Babinski sign Short thumb Generalized hirsutism Finger clinodactyly Abnormality of the hand Nasal speech Trigonocephaly Language impairment Hydronephrosis Clinodactyly Ketotic hypoglycemia Fatigable weakness of neck muscles Elevated plasma acylcarnitine levels Reduced protein C activity Reye syndrome-like episodes Ethylmalonic aciduria Hypersarcosinemia Fatigable weakness of distal limb muscles Abnormality of branched chain family amino acid metabolism Hypospadias Defective dehydrogenation of isovaleryl CoA and butyryl CoA Hepatic periportal necrosis Electron transfer flavoprotein-ubiquinone oxidoreductase defect Abnormality of blood glucose concentration Short neck Dilatation Abnormality of cardiovascular system morphology Difficulty climbing stairs Ventricular fibrillation Osteopetrosis Lumbar kyphosis in infancy Small foramen magnum Brain stem compression Limited hip extension Trident hand Spinal stenosis with reduced interpedicular distance Myelitis Hepatomegaly Cervical cord compression Fever Edema Diarrhea Arrhythmia Dyspnea Jaundice Iritis Hypopnea Elevated hepatic transaminase Cor pulmonale Generalized joint laxity Communicating hydrocephalus Upper airway obstruction Dysuria Central apnea Abnormality of femur morphology Multiple epiphyseal dysplasia Obstructive lung disease Hypoxemia Myelopathy Recurrent ear infections Thoracolumbar kyphosis Chronic myelogenous leukemia Central sleep apnea Cervical myelopathy Hypoglycemia Proximal muscle weakness Stridor Scapular winging Left ventricular hypertrophy Anorexia Decreased liver function Leukodystrophy Cardiac arrest Type I diabetes mellitus Pancreatitis Heterotopia Spastic tetraparesis Hyperammonemia Poor head control Easy fatigability Slurred speech Polycystic kidney dysplasia Hemiplegia Renal dysplasia Pachygyria Myalgia Nausea Abnormality of the pinna Respiratory tract infection Abnormality of the liver Dilated cardiomyopathy Lethargy Limb muscle weakness Pulmonary hypoplasia Abnormality of the genital system Hepatic steatosis Coma Renal cyst Tetraplegia Generalized muscle weakness Gliosis Waddling gait Atrophy/Degeneration involving the corticospinal tracts


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