Abnormal facial shape, and Left ventricular hypertrophy

Diseases related with Abnormal facial shape and Left ventricular hypertrophy

In the following list you will find some of the most common rare diseases related to Abnormal facial shape and Left ventricular hypertrophy that can help you solving undiagnosed cases.


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Medium match CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC 27; CMH27


CMH27 is a severe, early-onset cardiomyopathy with morphologic features of both dilated and hypertrophic disease, characterized by biventricular involvement and atypical distribution of hypertrophy. Heterozygotes are at increased risk of developing cardiomyopathy (Almomani et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of hypertrophic cardiomyopathy, see CMH1 (OMIM ).An oligogenic form of hypertrophic cardiomyopathy, involving heterozygous mutations in the ALPK3, TTN (OMIM ), and MYL3 (OMIM ) genes has also been reported in 1 family.

Related symptoms:

  • Abnormal facial shape
  • Low-set ears
  • High palate
  • Cardiomyopathy
  • Edema


SOURCES: OMIM MENDELIAN

More info about CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC 27; CMH27

Medium match LEFT VENTRICULAR NONCOMPACTION


Left ventricular noncompaction (LVNC) is a rare cardiomyopathy characterized anatomically by prominent left ventricular trabeculae and deep intratrabecular recesses causing progressive systolic and diastolic dysfunction, conduction abnormalities, and occasionally thromboembolic events.

LEFT VENTRICULAR NONCOMPACTION Is also known as spongy myocardium|lvnc|left ventricular hypertrabeculation|left ventricular noncompaction 1 with or without congenital heart defects

Related symptoms:

  • Abnormal facial shape
  • Ventricular septal defect
  • Respiratory distress
  • Congestive heart failure
  • Patent ductus arteriosus


SOURCES: OMIM ORPHANET MENDELIAN

More info about LEFT VENTRICULAR NONCOMPACTION

Medium match FAMILIAL ISOLATED PITUITARY ADENOMA


Mutations in the AIP gene have been found predominantly in growth hormone (GH)-secreting adenomas, but have also been found in adrenocorticotropic hormone (ACTH)-secreting, thyroid hormone (TSH)-secreting, and prolactin (PRL)-secreting pituitary tumors.Pituitary adenomas are benign monoclonal neoplasms of the anterior pituitary gland, accounting for approximately 15% of intracranial tumors. Growth hormone (OMIM )-secreting adenomas, also known as somatotropinomas, which clinically result in acromegaly, comprise about 20% of all pituitary tumors and are the second most common hormone-secreting pituitary tumor after prolactin (OMIM )-secreting tumors, which account for 40 to 45% of pituitary tumors. ACTH-secreting tumors, which result in Cushing disease, and thyrotropin (TSHB )-secreting tumors are much less common. Nonsecreting pituitary tumors, which account for about 33%, can cause symptoms due to local compressive effects of tumor growth (Vierimaa et al., 2006; Georgitsi et al., 2007; Horvath and Stratakis, 2008).Acromegaly is characterized by coarse facial features, protruding jaw, and enlarged extremities (Vierimaa et al., 2006). Familial isolated somatotropinoma (FIS) is defined as the occurrence of at least 2 cases of acromegaly or gigantism in a family that does not exhibit features of other endocrine syndromes. FIS patients tend to have onset about 4 to 10 years earlier than patients with sporadic disease (Gadelha et al., 1999; Horvath and Stratakis, 2008).Cushing disease is characterized by central obesity, moon facies, diabetes, 'buffalo hump,' hypertension, fatigue, easy bruising, depression, and reproductive disorders. Cushing disease is associated with increased morbidity and mortality, mainly due to cardiovascular or cerebrovascular disease and infections (summary by Perez-Rivas et al., 2015).Familial isolated pituitary adenoma (FIPA) and pituitary adenoma predisposition (PAP) are terms referring to families in which 2 or more individuals develop pituitary tumors. Within a family, tumor types can be heterogeneous, with members of the same family having GH-secreting, prolactin-secreting, ACTH-secreting, or nonsecreting adenomas; in contrast, some families are homogeneous with regard to tumor type. Familial isolated somatotropinoma refers specifically to GH-secreting tumors and is usually associated with an acromegaly phenotype. Thus, FIS is a subset of FIPA or PAP (Toledo et al., 2007).Schlechte (2003) discussed prolactinoma in general terms as a clinical, diagnostic, and therapeutic problem. Genetic Heterogeneity of Pituitary AdenomasAlso see pituitary adenoma-2 (PITA2 ), caused by mutation in the GPR101 gene (OMIM ); pituitary adenoma-3 (PITA3 ), caused by somatic activating mutations in the GNAS1 gene (OMIM ); pituitary adenoma-4 (PITA4 ), caused by somatic mutation in the USP8 gene (OMIM ); and pituitary adenoma-5 (PITA5 ), caused by mutation in the CDH23 gene (OMIM ).Patients with the chromosome Xq26.3 microduplication syndrome (OMIM ) have growth hormone-secreting adenomas.Familial acromegaly can also occur in association with multiple endocrine neoplasia type I (MEN1 ), Carney complex (CNC1 ), and the McCune-Albright syndrome (OMIM ).Rostomyan et al. (2015) performed a retrospective analysis of 208 patients with pituitary gigantism due to pituitary adenoma or hyperplasia. Most patients (78.4%) were male, and the median onset of rapid growth was 13 years of age for boys and 11 years for girls. Of the 143 patients who consented to genetic testing, 29% had AIP mutations, and microduplication at Xq26.3 (XLAG ) was present in 2 familial isolated pituitary adenoma kindreds and in 10 sporadic patients. Rostomyan et al. (2015) noted that no genetic etiology was identified in more than 50% of the cases, and that the genetically unexplained cases showed more aggressive disease in terms of invasion, hormone levels, and lower control rates.

FAMILIAL ISOLATED PITUITARY ADENOMA Is also known as somatotropinoma, familial isolated|pagh1|somatotrophinoma, familial|ifs|isolated familial somatotropinoma|fipa|acromegaly due to pituitary adenoma 1|fis

Related symptoms:

  • Neoplasm
  • Hypertension
  • Fatigue
  • Cardiomyopathy
  • Headache


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL ISOLATED PITUITARY ADENOMA

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Other less relevant matches:

Medium match AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY


Autosomal recessive centronuclear myopathy (AR-CNM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy.

AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY Is also known as myopathy, centronuclear, autosomal recessive|myotubular myopathy, autosomal recessive|ar-cnm

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY

Medium match LETHAL POLYMALFORMATIVE SYNDROME, BOISSEL TYPE


Lethal polymalformative syndrome, Boissel type is a rare, genetic, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by failure to thrive, severe developmental delay, severe postanatal microcephaly, frequent congenital cardiac defects and characteristic facial dysmorphysm (including coarse face with anteverted nostrils, thin vermillion, prominent alveolar ridge and retro- or micrognatia). Additional common features include neurologic abnormalities (hyper-/hypotonia, sensorineural deafness, hydrocephalus, cerebral atrophy, seizures), as well as brachydactyly, cutis marmorata and genital anomalies.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Growth delay


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about LETHAL POLYMALFORMATIVE SYNDROME, BOISSEL TYPE

Low match HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, CANTU TYPE


Cantu syndrome is a rare disorder characterized by congenital hypertrichosis, osteochondrodysplasia, cardiomegaly, and dysmorphism.

HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, CANTU TYPE Is also known as hypertrichotic osteochondrodysplasia

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism
  • Strabismus


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, CANTU TYPE

Low match FRIEDREICH ATAXIA


Friedreich ataxia (FRDA) is an inherited neurodegenerative disorder classically characterized by progressive gait and limb ataxia, dysarthria, dysphagia, oculomotor dysfunction, loss of deep tendon reflexes, pyramidal tract signs, scoliosis, and in some, cardiomyopathy, diabetes mellitus, visual loss and defective hearing.

FRIEDREICH ATAXIA Is also known as frda1|fa|frda

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Ataxia
  • Nystagmus
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about FRIEDREICH ATAXIA

Low match NOONAN SYNDROME WITH MULTIPLE LENTIGINES


Noonan syndrome with multiple lentigines (NSML), previously known as LEOPARD syndrome, is a rare multisystem genetic disorder characterized by lentigines, hypertrophic cardiomyopathy, short stature, pectus deformity, and dysmorphic facial features.

NOONAN SYNDROME WITH MULTIPLE LENTIGINES Is also known as leopard syndrome|cardiomyopathic lentiginosis|familial multiple lentigines syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about NOONAN SYNDROME WITH MULTIPLE LENTIGINES

Low match MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY; MADD


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

Low match LARSEN-LIKE SYNDROME, B3GAT3 TYPE


Larsen-like syndrome, B3GAT3 type is a rare, genetic, primary bone dysplasia characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations. Severe disease is associated with multiple fractures, osteopenia, arachnodactyly and blue sclerae. A broad spectrum of additional features, including scoliosis, radio-ulnar synostosis, mild developmental delay, and various eye disorders (glaucoma, amblyopia, hyperopia, astigmatism, ptosis), are also reported.

LARSEN-LIKE SYNDROME, B3GAT3 TYPE Is also known as multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome|larsen syndrome, autosomal recessive, formerly

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about LARSEN-LIKE SYNDROME, B3GAT3 TYPE

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Left ventricular hypertrophy

Symptoms // Phenotype % cases
Cardiomyopathy Common - Between 50% and 80% cases
Congestive heart failure Common - Between 50% and 80% cases
Hypertrophic cardiomyopathy Common - Between 50% and 80% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Arrhythmia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Abnormal facial shape and Left ventricular hypertrophy. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Intellectual disability Global developmental delay Wide nasal bridge Respiratory distress Seizures Hearing impairment Short neck Depressivity Scoliosis Ventricular hypertrophy Cardiomegaly Depressed nasal bridge Muscle weakness Ptosis Talipes equinovarus Motor delay Dysarthria Growth delay Intellectual disability, mild Areflexia Difficulty walking Scapular winging Fatigue Anteverted nares Hypertelorism Delayed skeletal maturation Low-set ears Coarse facial features Muscular hypotonia Patent ductus arteriosus Ventricular septal defect Ventricular arrhythmia Dilated cardiomyopathy

Rare Symptoms - Less than 30% cases


Fever Generalized muscle weakness Narrow chest Thick eyebrow Abnormality of the foot Thick vermilion border Ketosis Waddling gait Bifid uvula Limb muscle weakness Low posterior hairline Difficulty climbing stairs Hyperlordosis Wolff-Parkinson-White syndrome Pes planus Proximal muscle weakness Retrognathia Dyspnea Narrow mouth Pes cavus Osteopenia Osteoporosis High palate Sensorineural hearing impairment Wide mouth Umbilical hernia Hernia Long philtrum Hydrocephalus Cardiac arrest Intrauterine growth retardation Cryptorchidism Cleft palate Failure to thrive Kyphosis Hydrops fetalis Strabismus Right ventricular hypertrophy Left ventricular noncompaction Macrocephaly Slurred speech Edema Prominent forehead Abnormal heart valve morphology Tachycardia Neonatal hypotonia Lymphedema Restrictive ventilatory defect Gait disturbance Myopathy Mitral valve prolapse Webbed neck Spasticity Obesity Headache Hypertension Hyperextensible skin Joint hyperflexibility Pain Pulmonic stenosis Pectus carinatum Ataxia Brachycephaly Concentric hypertrophic cardiomyopathy Short stature Dysphagia Abnormality of the genital system Exercise intolerance Bicuspid aortic valve Cognitive impairment Delayed speech and language development Mitral regurgitation Gait ataxia Atrial fibrillation Accelerated skeletal maturation Feeding difficulties Bundle branch block Flexion contracture Kyphoscoliosis Cerebral cortical atrophy Respiratory insufficiency Lethargy Gliosis Abnormality of the liver Abnormality of the cerebral white matter Clonus Pancreatitis Leukodystrophy Congenital cataract Nausea and vomiting Respiratory tract infection Abnormality of the pinna Type I diabetes mellitus Aciduria Myalgia Renal dysplasia Increased serum lactate Pachygyria Heterotopia Renal cyst Coma Metabolic acidosis Hepatic steatosis Anorexia Tetraparesis Wide anterior fontanel Pulmonary hypoplasia Lactic acidosis Decreased liver function Nausea Muscle cramps Tetraplegia Telecanthus Knee dislocation Elevated hepatic transaminase Cafe-au-lait spot Neuroblastoma Multiple cafe-au-lait spots Freckling Atrioventricular canal defect Decreased fertility Abnormality of the ear External genital hypoplasia Bilateral cryptorchidism Melanocytic nevus Abnormality of the voice Myelodysplasia Melanoma Spina bifida occulta Subcutaneous nodule Severe sensorineural hearing impairment Abnormality of the face Myocardial infarction Tetralogy of Fallot Specific learning disability Nevus Triangular face Delayed puberty Abnormality of the kidney Low-set, posteriorly rotated ears Mandibular prognathia Hyperkeratosis Posteriorly rotated ears Pectus excavatum Curly hair Sprengel anomaly Hypoglycemia Hepatomegaly Jaundice Arthralgia High forehead Acidosis Weight loss Respiratory failure Elevated serum creatine phosphokinase Encephalopathy Behavioral abnormality Diarrhea Vomiting Tremor Hyperammonemia Cataract Premature skin wrinkling Numerous nevi Hypoplasia of the ovary Abnormal pulmonary valve morphology Abnormal endocardium morphology Multiple lentigines Excessive wrinkled skin Abnormality of the pulmonary artery Abnormal localization of kidney Abnormal aortic valve morphology Shield chest Abnormal mitral valve morphology Aplasia/Hypoplasia of the abdominal wall musculature Redundant neck skin Spastic tetraparesis Abnormality of the renal tubule Ragged-red muscle fibers Talipes Hypertropia Accessory carpal bones Blue sclerae Enlarged metaphyses Prominent antitragus Congenital diaphragmatic hernia Microdontia Esotropia Short metacarpal Recurrent fractures Flat face Arachnodactyly Genu valgum Abnormal lung morphology Hypermetropia Hip dislocation Microtia Abnormal cardiac septum morphology Joint laxity Proptosis Glaucoma Inguinal hernia Abnormal heart morphology Midface retrusion Frontal bossing Downslanted palpebral fissures Shoulder dislocation Amblyopia Abnormality of blood glucose concentration Talipes equinovalgus Lumbar scoliosis Abnormality of the abdominal wall Endocardial fibroelastosis Deep palmar crease Small face Generalized osteoporosis 11 pairs of ribs Overlapping fingers Abnormally large globe Upper limb undergrowth Aortic root aneurysm Narrow nasal bridge Multiple joint dislocation Rhizomelia Congenital glaucoma Thoracic hypoplasia Bilateral talipes equinovarus Metatarsus adductus Spondyloepiphyseal dysplasia Radioulnar synostosis Patent foramen ovale Cutis laxa Sandal gap Microretrognathia Joint dislocation Elbow flexion contracture Meningitis Micrognathia Electron transfer flavoprotein-ubiquinone oxidoreductase defect Mutism Progressive proximal muscle weakness Loss of ability to walk Abnormal corpus callosum morphology Episodic vomiting Proximal tubulopathy Medulloblastoma Exercise-induced myalgia Hypoketotic hypoglycemia Organic aciduria Chronic fatigue Excessive daytime somnolence Ketonuria Cardiorespiratory arrest Myoglobinuria Respiratory arrest Drowsiness Fatigable weakness Acute kidney injury Rhabdomyolysis Glycosuria Ventricular fibrillation Stridor Hemiplegia Back pain Polycystic kidney dysplasia Easy fatigability Poor head control Acute pancreatitis Generalized aminoaciduria Hepatic periportal necrosis Ketotic hypoglycemia Spatulate thumbs Defective dehydrogenation of isovaleryl CoA and butyryl CoA Broad distal phalanges of all fingers Abnormality of branched chain family amino acid metabolism Metacarpophalangeal joint hyperextensibility Fatigable weakness of neck muscles Fatigable weakness of distal limb muscles Hypersarcosinemia Ethylmalonic aciduria Reye syndrome-like episodes Reduced protein C activity Elevated plasma acylcarnitine levels Increased muscle lipid content Oliguria Glutaric acidemia Arthralgia of the hip Gastrointestinal inflammation Narcolepsy Cataplexy Renal cortical cysts Limb tremor Impaired mastication Nonketotic hypoglycemia Hypospadias Personality disorder Progressive spastic quadriplegia Glutaric aciduria Hypoglycemic coma Sensory axonal neuropathy Abnormality of cardiovascular system morphology Severe global developmental delay Severe failure to thrive Protruding tongue Cutis marmorata Failure to thrive in infancy Lissencephaly Short chin Small nail Dandy-Walker malformation Delayed myelination Macroglossia Thin vermilion border Absent speech Skull asymmetry Hypertonia Hypoplasia of the corpus callosum Brachydactyly Microcephaly EMG: decremental response of compound muscle action potential to repetitive nerve stimulation Axial muscle weakness Type 1 muscle fiber predominance Facial diplegia Difficulty running Hip contracture Centrally nucleated skeletal muscle fibers Periorbital fullness Epicanthus Long fingers Coxa valga Short hallux Thickened calvaria Thin ribs Pericardial effusion Broad hallux Flared metaphysis Large for gestational age Metaphyseal widening Elevated alkaline phosphatase Pyloric stenosis Prominent supraorbital ridges Generalized hirsutism Abnormality of the skeletal system Low anterior hairline Gingival overgrowth Long eyelashes Abnormality of the metaphysis Hypertrichosis Thick lower lip vermilion Short distal phalanx of finger Platyspondyly Finger syndactyly Anxiety Skeletal dysplasia Recurrent infections Exertional dyspnea Generalized amyotrophy Thick upper lip vermilion Abnormal myocardium morphology Epidermal acanthosis Bruising susceptibility Neoplasm Abnormality of the fascia Noncompaction cardiomyopathy Left ventricular noncompaction cardiomyopathy Permanent atrial fibrillation Biventricular hypertrophy Right ventricular failure Abnormal thrombosis Abnormal left ventricle morphology Restrictive cardiomyopathy Growth hormone excess Concave nasal ridge Left bundle branch block Pulmonary embolism Hypoplastic left heart Right bundle branch block Atrioventricular block Ventricular tachycardia Syncope Sudden cardiac death Multiple pterygia Tricuspid regurgitation Pterygium Acanthosis nigricans Prolactin excess Ophthalmoparesis Protruding ear Gowers sign Congenital contracture Bilateral ptosis Dysphonia EMG: myopathic abnormalities External ophthalmoplegia Respiratory insufficiency due to muscle weakness Progressive muscle weakness Long face Ophthalmoplegia Distal muscle weakness Feeding difficulties in infancy Pituitary adenoma Facial palsy Skeletal muscle atrophy Increased serum insulin-like growth factor 1 Prolactinoma Dorsocervical fat pad Moon facies Pituitary growth hormone cell adenoma Pituitary prolactin cell adenoma Galactorrhea Abdominal obesity Menstrual irregularities Neoplasm of the endocrine system Ovoid vertebral bodies Broad ribs Dilatation Urinary bladder sphincter dysfunction T-wave inversion Subvalvular aortic stenosis Asymmetric septal hypertrophy Impaired proprioception Gait imbalance Spinocerebellar tract degeneration Hyposmia Areflexia of lower limbs Myocardial fibrosis Increased reactive oxygen species production Ketoacidosis Heart block Abnormal echocardiogram Abnormality of visual evoked potentials Abnormal EKG Thoracic scoliosis Optic neuropathy Hyperactive deep tendon reflexes Visual field defect Glucose intolerance Decreased motor nerve conduction velocity Hammertoe Impaired vibratory sensation Dysdiadochokinesis Cachexia Poor fine motor coordination Lower limb amyotrophy Reduced tendon reflexes Muscular subvalvular aortic stenosis Atrophic superior cerebellar peduncle Impaired visually enhanced vestibulo-ocular reflex Structural foot deformity Abolished vibration sense Spinal cord posterior columns myelin loss Palmar hyperhidrosis Temporal optic disc pallor Abnormality of the dentate nucleus Decreased pyruvate carboxylase activity Mitochondrial malic enzyme reduced Cervical spinal cord atrophy Decreased amplitude of sensory action potentials Positive Romberg sign Hemifacial hypertrophy Abnormality of the autonomic nervous system Incomprehensible speech Upper limb amyotrophy Cerebellar cortical atrophy Diabetic ketoacidosis Decreased sensory nerve conduction velocity Reduced systolic function Hand muscle atrophy Sinus tachycardia Abnormal saccadic eye movements Abnormality of cardiovascular system physiology Incoordination Spastic paraparesis Broad hallux phalanx Nystagmus Pallor Reduced visual acuity Hyperactivity Diabetes mellitus Babinski sign Visual loss Dystonia Cerebellar atrophy Optic atrophy Peripheral neuropathy Visual impairment Widened posterior fossa Abnormality of eye movement Congenital hypertrophy of left ventricle Hypoplastic ischiopubic rami Broad first metatarsal Cuboid-shaped vertebral bodies Bilateral coxa valga Congenital, generalized hypertrichosis Erlenmeyer flask deformity of the femurs Curly eyelashes Large sella turcica Deep plantar creases Generalized hypertrichosis Esodeviation Abnormal pyramidal sign Abnormality of movement Paraparesis Peripheral demyelination Muscle stiffness Truncal ataxia Insulin resistance Spastic gait Limb ataxia Lower limb spasticity Involuntary movements Clumsiness Palpitations Intention tremor Optic disc pallor Sensory impairment Lower limb muscle weakness Chorea Chest pain Progressive cerebellar ataxia Abnormal cerebellum morphology Neurodegeneration Sensory neuropathy Inability to walk Falls Peripheral axonal neuropathy Vertigo Unsteady gait Dysmetria Bilateral elbow dislocations



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