Congestive heart failure, and Autism

Diseases related with Congestive heart failure and Autism

In the following list you will find some of the most common rare diseases related to Congestive heart failure and Autism that can help you solving undiagnosed cases.


Top matches:

High match ACYL-COA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF; ACADVLD


Inborn errors of mitochondrial fatty acid beta-oxidation include medium-chain acyl-CoA dehydrogenase deficiency (OMIM ), short-chain acyl-CoA dehydrogenase deficiency (OMIM ), and very long-chain acyl-CoA dehydrogenase deficiency.VLCAD deficiency can be classified clinically into 3 forms: a severe early-onset form with high incidence of cardiomyopathy and high mortality; an intermediate form with childhood onset, usually with hypoketotic hypoglycemia and more favorable outcome; and an adult-onset, myopathic form with isolated skeletal muscle involvement, rhabdomyolysis, and myoglobinuria after exercise or fasting (Andresen et al., 1999).Patients reported with long-chain acyl-CoA dehydrogenase (LCAD) deficiency before VLCAD deficiency was defined were later found to have VLCAD deficiency (Strauss et al., 1995; Roe and Ding, 2001).

ACYL-COA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF; ACADVLD Is also known as vlcad deficiency

Related symptoms:

  • Generalized hypotonia
  • Muscle weakness
  • Muscular hypotonia
  • Pain
  • Hepatomegaly


SOURCES: OMIM MENDELIAN

More info about ACYL-COA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF; ACADVLD

High match PEROXISOME BIOGENESIS DISORDER 9B; PBD9B


While most patients of PBD complementation group 11 manifest rhizomelic chondrodysplasia punctata (RCDP1 ), a few have been reported with unusually mild phenotypes with longer survival, less neurologic involvement, normal or near-normal growth, and absence of rhizomelia (Braverman et al., 2002). In some cases this phenotype was indistinguishable from that of classic Refsum disease (OMIM ) and patients carried this diagnosis.Individuals with PBDs of complementation group 11 (CG11, equivalent to CGR) have mutations in the PEX7 gene. For information on the history of PBD complementation groups, see {214100}.

PEROXISOME BIOGENESIS DISORDER 9B; PBD9B Is also known as refsum disease, adult, 2|peroxisome biogenesis disorder, pex7-related, atypical

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 9B; PBD9B

High match TUBEROUS SCLEROSIS COMPLEX


Tuberous sclerosis complex (TSC) is a neurocutaneous disorder characterized by multisystem hamartomas and associated with neuropsychiatric features.

TUBEROUS SCLEROSIS COMPLEX Is also known as tuberous sclerosis|bourneville syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Neoplasm
  • Cognitive impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about TUBEROUS SCLEROSIS COMPLEX

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Other less relevant matches:

High match TUBEROUS SCLEROSIS 1; TSC1


Tuberous sclerosis complex (TSC) is an autosomal dominant multisystem disorder characterized by hamartomas in multiple organ systems, including the brain, skin, heart, kidneys, and lung. Central nervous system manifestations include epilepsy, learning difficulties, behavioral problems, and autism. Renal lesions, usually angiomyolipomas, can cause clinical problems secondary to hemorrhage or by compression and replacement of healthy renal tissue, which can cause renal failure. Patients can also develop renal cysts and renal-cell carcinomas. Pulmonary lymphangioleiomyomatosis can develop in the lungs. Skin lesions include melanotic macules, facial angiofibromas, and patches of connective tissue nevi. There is a wide clinical spectrum, and some patients may have minimal symptoms with no neurologic disability (reviews by Crino et al., 2006 and Curatolo et al., 2008). Genetic Heterogeneity of Tuberous SclerosisSee also tuberous sclerosis-2 (OMIM ), which is caused by mutation in the TSC2 gene (OMIM ) on chromosome 16p13.Approximately 10 to 30% of cases of tuberous sclerosis are due to mutations in the TSC1 gene: the frequency of cases due to mutations in the TSC2 gene is consistently higher. TSC2 mutations are associated with more severe disease (Crino et al., 2006) (see GENOTYPE/PHENOTYPE CORRELATIONS section).

TUBEROUS SCLEROSIS 1; TSC1 Is also known as tuberous sclerosis complex|ts|tuberose sclerosis|tsc

Related symptoms:

  • Intellectual disability
  • Seizures
  • Neoplasm
  • Pain
  • Hypertension


SOURCES: OMIM MENDELIAN

More info about TUBEROUS SCLEROSIS 1; TSC1

High match TEMTAMY SYNDROME


Temtamy syndrome is a very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.

TEMTAMY SYNDROME Is also known as temtamy-shalash syndrome|craniofacial dysmorphism-coloboma-corpus callosum agenesis syndrome|mental retardation with or without craniofacial dysmorphism, ocular coloboma, or abnormal corpus callosum

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about TEMTAMY SYNDROME

High match PROXIMAL 16P11.2 MICRODELETION SYNDROME


The proximal 16p11.2 microdeletion syndrome is a chromosomal anomaly characterized by developmental and language delays, mild intellectual disability, social impairments (autism spectrum disorders), mild variable dysmorphism and predisposition to obesity.

PROXIMAL 16P11.2 MICRODELETION SYNDROME Is also known as proximal del(16)(p11.2)|proximal monosomy 16p11.2

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Scoliosis


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PROXIMAL 16P11.2 MICRODELETION SYNDROME

High match PRADER-WILLI SYNDROME; PWS


Prader-Willi syndrome is characterized by diminished fetal activity, obesity, muscular hypotonia, mental retardation, short stature, hypogonadotropic hypogonadism, and small hands and feet. It can be considered to be an autosomal dominant disorder and is caused by deletion or disruption of a gene or several genes on the proximal long arm of the paternal chromosome 15 or maternal uniparental disomy 15, because the gene(s) on the maternal chromosome(s) 15 are virtually inactive through imprinting. Horsthemke and Wagstaff (2008) provided a detailed review of the mechanisms of imprinting of the Prader-Willi/Angelman syndrome (OMIM ) region.See also the chromosome 15q11-q13 duplication syndrome (OMIM ), which shows overlapping clinical features.

PRADER-WILLI SYNDROME; PWS Is also known as prader-labhart-willi syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PRADER-WILLI SYNDROME; PWS

High 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

Medium match ALSTRÖM SYNDROME


Alström syndrome (AS) is a multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM; see this term), and progressive hepatic and renal dysfunction.

ALSTRÖM SYNDROME Is also known as alss

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ALSTRÖM SYNDROME

Medium match CARDIOFACIOCUTANEOUS SYNDROME


Cardiofaciocutaneous (CFC) syndrome is a RASopathy characterized by craniofacial dysmorphology, congenital heart disease, dermatological abnormalities (most commonly hyperkeratotic skin and sparse, curly hair), growth retardation and intellectual disability.

CARDIOFACIOCUTANEOUS SYNDROME Is also known as cfcs|cfc syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CARDIOFACIOCUTANEOUS SYNDROME

Top 5 symptoms//phenotypes associated to Congestive heart failure and Autism

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Seizures Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Behavioral abnormality Common - Between 50% and 80% cases
Vomiting Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Congestive heart failure and Autism. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Cognitive impairment

Uncommon Symptoms - Between 30% and 50% cases


Growth delay

Common Symptoms - More than 50% cases


Dilatation

Uncommon Symptoms - Between 30% and 50% cases


Nystagmus Specific learning disability Cataract Hypertension Hearing impairment Ventriculomegaly Short stature Autistic behavior Motor delay Arrhythmia Muscular hypotonia Pain Cardiomyopathy Attention deficit hyperactivity disorder Feeding difficulties Optic atrophy Respiratory insufficiency EEG abnormality Scoliosis Intellectual disability, mild Precocious puberty Strabismus Sleep disturbance Ataxia Sensorineural hearing impairment Hypertelorism Hypothyroidism Progressive visual loss Neoplasm Blindness Ptosis Micrognathia Renal insufficiency Myopia Generalized hypotonia Encephalopathy Gastroesophageal reflux Hyperactivity Kyphosis Abnormality of the dentition Failure to thrive Irritability Atrial septal defect Short neck Hepatomegaly Delayed speech and language development Cardiomegaly Respiratory failure Abnormality of the cardiovascular system Respiratory distress Delayed puberty Growth hormone deficiency Dyspnea Cryptorchidism Type II diabetes mellitus Hypogonadotrophic hypogonadism Depressivity Stroke Constipation Wolff-Parkinson-White syndrome Infantile spasms Aplasia/Hypoplasia of the corpus callosum Cafe-au-lait spot Abnormality of the kidney Aortic aneurysm Nausea Macrocephaly Short toe Generalized-onset seizure Intellectual disability, severe Short nose Obesity Abnormality of the pinna Psychosis Hyporeflexia Hypogonadism Carious teeth Depressed nasal bridge Visual impairment Low-set ears Diabetes mellitus Weight loss Photophobia Respiratory tract infection Pruritus Hypermetropia Dolichocephaly Bilateral ptosis Cerebral calcification Dilated cardiomyopathy Rod-cone dystrophy Visual loss Peripheral neuropathy Myalgia Nyctalopia Abnormality of the liver Tachypnea Hypertrophic cardiomyopathy Myopathy Ichthyosis Hepatic steatosis Renal cyst

Rare Symptoms - Less than 30% cases


Tapered finger Pancreatitis Macular degeneration Narrow palpebral fissure Clinodactyly Generalized hirsutism Pigmentary retinopathy Alopecia of scalp Cerebral visual impairment High palate Abnormality of retinal pigmentation Anorexia Left ventricular hypertrophy Arnold-Chiari type I malformation Decreased body weight Edema Involuntary movements Hemiparesis Pulmonary arterial hypertension Fever Epicanthus Exercise intolerance Deeply set eye Small hand Hydroureter Esotropia Renal agenesis Bilateral sensorineural hearing impairment Glomerulopathy Progressive sensorineural hearing impairment Aortic regurgitation Abnormal palate morphology Relative macrocephaly Unilateral renal agenesis Chronic otitis media Obsessive-compulsive behavior Aplasia/Hypoplasia of the cerebellum Intrauterine growth retardation Goiter Anteverted nares Cardiorespiratory arrest Malar flattening Hernia Drowsiness Inguinal hernia Posteriorly rotated ears Polydactyly Micropenis Rhabdomyolysis Macrotia Recurrent respiratory infections Pericardial effusion Cardiac arrest Muscle cramps Prominent forehead Myoclonus Failure to thrive in infancy Hyperinsulinemia Erythema Feeding difficulties in infancy Glucose intolerance Proteinuria Jaundice Adrenal insufficiency Cerebral cortical atrophy Truncal obesity Abdominal pain Polyphagia Pulmonary embolism Poor suck Delayed skeletal maturation Hypoventilation Elevated serum creatine phosphokinase Cerebral atrophy Dystonia Oligomenorrhea Hypertonia Dysphagia Fatigue Poor fine motor coordination Dysarthria Abnormality of the optic disc Frontal balding Neurological speech impairment Generalized tonic-clonic seizures Osteoporosis Nephropathy Decreased liver function Sudden cardiac death Atopic dermatitis Osteopenia Coma Apnea Leukemia Lethargy Genu valgum Infertility Subcutaneous nodule Polymicrogyria Hirsutism Sleep apnea Full cheeks Gastrointestinal hemorrhage Peripheral axonal neuropathy Hip dysplasia Amenorrhea Hypoglycemia Narrow forehead Hepatosplenomegaly Insulin resistance Muscle weakness Increased body weight Acidosis Ophthalmoplegia Long face Microcephaly Psychotic episodes Congenital cataract Generalized hypopigmentation Chordoma Angiofibromas Renal angiomyolipoma Optic nerve glioma Shagreen patch Tubulointerstitial nephritis Ependymoma Hyperkeratosis Adenoma sebaceum Polyneuropathy Chylothorax Hyperhidrosis Retinopathy Abnormal facial shape Pulmonic stenosis Pneumothorax Posterior subcapsular cataract Hyperpigmentation of the skin Downslanted palpebral fissures Frontal bossing Hyperventilation Cortical tubers Ventricular septal defect Achromatic retinal patches Hypotrichosis Headache Scarring Hydrocephalus Intellectual disability, moderate Sparse hair Rhabdomyoma Cough Abnormality of the cerebral white matter Subungual fibromas Retinal dystrophy Subependymal nodules Hypopigmentation of the skin Pulmonary lymphangiomyomatosis Abdominal distention Nevus Retinal pigment epithelial atrophy Vesicoureteral reflux Ungual fibroma Dental enamel pits Hypomelanotic macule Cardiac rhabdomyoma Gingival fibromatosis Thickened skin Astrocytoma Hypopigmented skin patches Abnormality of neuronal migration Alopecia Patent ductus arteriosus Atrioventricular block Abnormal heart morphology Clinodactyly of the 5th finger Gait ataxia Iris coloboma Microphthalmia Coarse facial features Pes planus Hydronephrosis Telecanthus Mental deterioration Bradycardia Coloboma Emphysema Dry skin Hamartoma Skin tags Anxiety Talipes equinovarus Multiple renal cysts Splenomegaly Gingivitis Abnormality of the respiratory system Multiple cafe-au-lait spots Renal cell carcinoma Long philtrum Abnormal left ventricle morphology Esophageal varix Abnormal renal physiology Acute pancreatitis Tubulointerstitial fibrosis Chronic obstructive pulmonary disease Disinhibition Postnatal growth retardation Pallor Achromatopsia Urethral stenosis Hepatic encephalopathy Abnormality of female external genitalia Chills Pyelonephritis Conductive hearing impairment Ovarian cyst Kyphoscoliosis Abnormal renal morphology Endocardial fibroelastosis Morphological abnormality of the vestibule of the inner ear Bilateral intracranial calcifications Elevated hepatic transaminase Menstrual irregularities Decreased HDL cholesterol concentration High-frequency hearing impairment Abnormality of acid-base homeostasis Arteriosclerosis Restrictive cardiomyopathy Episodic quadriplegia Prominent ear helix Testicular atrophy Urinary retention Pneumonia Morphological abnormality of the inner ear Elevated C-reactive protein level Accelerated skeletal maturation Chronic fatigue Agenesis of permanent teeth Polyuria Multinodular goiter Pulmonary fibrosis Urinary urgency Abnormal retinal morphology Chorioretinal atrophy Short finger Recurrent pneumonia Hyperglycemia Hypergonadotropic hypogonadism Gynecomastia Glycosuria Bronchitis Hyperuricemia Increased number of teeth Sinusitis Diabetes insipidus Hyperostosis Chronic diarrhea Cholelithiasis Acanthosis nigricans Atherosclerosis Hyperlipidemia Hypercholesterolemia Cone/cone-rod dystrophy Polycystic ovaries Abnormality of the hand Elevated alkaline phosphatase Acne Nephrocalcinosis Lipodystrophy Portal hypertension Polydipsia Nephritis Horizontal nystagmus Constriction of peripheral visual field Impaired vibratory sensation Hepatic fibrosis Subcapsular cataract Myocardial fibrosis Hepatic failure Right ventricular hypertrophy Elevated serum creatinine Acute hepatic failure Urinary incontinence Asthma Ascites Absence seizures Tachycardia Attenuation of retinal blood vessels Tubular atrophy Cirrhosis Stage 5 chronic kidney disease Lymphadenopathy Myocarditis Oligospermia Retinal degeneration Male hypogonadism Round face Otitis media Pericarditis Peripheral visual field loss Thoracic scoliosis Autoimmune thrombocytopenia Severe sensorineural hearing impairment Recurrent urinary tract infections Insulin-resistant diabetes mellitus Recurrent otitis media Retinal atrophy Hypertriglyceridemia Decreased testicular size Epidermal acanthosis Optic disc pallor Poor coordination Broad foot Hepatitis Ketoacidosis Cyanosis Pendular nystagmus Recurrent bronchitis Abnormality of prothrombin Bull's eye maculopathy Malnutrition Ectropion Melanocytic nevus Cubitus valgus Heart murmur Absent eyebrow Hyperkeratosis pilaris Large for gestational age Open bite Aplasia/Hypoplasia of the eyebrow Scaling skin Tongue thrusting Neurodevelopmental delay Functional abnormality of the gastrointestinal tract Neurofibromas Laryngeal cleft Abnormality of the sternum Generalized ichthyosis Hypoplasia of the frontal lobes Pleural effusion Sparse eyebrow Abnormal heart valve morphology Cutis laxa Lymphedema Puberty and gonadal disorders Abnormal location of ears Aspiration Abnormality of the nail Narrow palate Sparse eyelashes Oculomotor apraxia Hemangioma Brittle hair Abnormality of the genitourinary system Delayed gross motor development Optic nerve hypoplasia Palmoplantar hyperkeratosis Abnormality of vision Hyperextensible skin Deep philtrum Redundant skin Abnormality of the hairline Long palpebral fissure Biparietal narrowing Cutaneous T-cell lymphoma Deep palmar crease Abnormality of the optic nerve Sparse or absent eyelashes Multiple lentigines Cavernous hemangioma Abnormality of the testis Delayed CNS myelination Abnormal myocardium morphology Abnormality of refraction Gastrointestinal dysmotility Endocarditis Abnormal mitral valve morphology Slow-growing hair Thickened helices Subvalvular aortic stenosis Abnormal aortic valve morphology Hyperextensibility of the finger joints Abnormality of the pulmonary artery Abnormality of hair texture Excessive wrinkled skin Increased nuchal translucency Dystrophic fingernails Curly hair Hypoplasia of the zygomatic bone Generalized hyperpigmentation Submucous cleft hard palate Anal stenosis Underdeveloped supraorbital ridges Poor appetite Abnormal eyelash morphology Enlarged kidney Absent eyelashes Premature skin wrinkling Anterior creases of earlobe Abnormality of the ulna Abnormality of the gastrointestinal tract Short attention span Woolly hair Optic nerve dysplasia Thick upper lip vermilion Patchy alopecia Abnormal tricuspid valve morphology Abnormal hair pattern Morphological abnormality of the gastrointestinal tract Inappropriate crying Vertical nystagmus Nonproductive cough Chronic hepatic failure Facial hirsutism ST segment depression Multifocal atrial tachycardia Childhood-onset truncal obesity High-frequency sensorineural hearing impairment Increased circulating androgen level Exudative retinopathy Abnormal adipose tissue morphology Hypoplastic male external genitalia Chronic active hepatitis Hyperostosis frontalis interna Receptive language delay Granular macular appearance Thickened ears Dilatation of the bladder Unilateral breast hypoplasia Glue ear Hepatic necrosis Abnormality of the pituitary gland Widely-spaced incisors Lumbar scoliosis Increased total bilirubin Hematemesis Melena First degree atrioventricular block Decreased glomerular filtration rate Abnormal spermatogenesis Chronic infection Abnormality of the urethra Abnormality of dental color Urethral obstruction Epigastric pain Abnormal chorioretinal morphology Urethral stricture Impaired temperature sensation Female hypogonadism Abnormal muscle tone Albuminuria Renovascular hypertension Squared iliac bones Recurrent cystitis Abnormal retinal artery morphology Open mouth Abnormal bleeding Falls Abnormal cochlea morphology Bulbous nose Bruising susceptibility Thick vermilion border High, narrow palate Multiple palmar creases Palmoplantar keratoderma Intestinal malrotation Abnormality of skin pigmentation Premature birth Dental malocclusion Webbed neck Coarctation of aorta Low posterior hairline Fine hair Myocardial infarction Inflammatory abnormality of the skin Abnormality of the auditory canal Joint hypermobility Astigmatism Precocious puberty in females Eyelid fasciculation EEG with occipital slowing Multiple plantar creases Abnormality of renal calyx morphology Localized hirsutism Vitreous haze Abnormality of the femoral head Abnormality of cardiovascular system morphology Thrombocytopenia Pectus excavatum Nail dystrophy Proptosis Polyhydramnios High forehead Umbilical hernia Aggressive behavior Low-set, posteriorly rotated ears Abnormality of the eye Abnormal cardiac septum morphology Pectus carinatum Homonymous hemianopia Malabsorption Paralytic ileus Microretrognathia Talipes Smooth philtrum Flat face Underdeveloped nasal alae Congenital diaphragmatic hernia Pointed chin Hemivertebrae Pyloric stenosis Blepharophimosis Hand polydactyly Language impairment Anophthalmia Combined immunodeficiency Long nose Syringomyelia Severe combined immunodeficiency Broad forehead Wide mouth Missing ribs Lens luxation Bowing of the legs Congenital nystagmus Neurogenic bladder Hypoplasia of teeth Profound global developmental delay Colpocephaly Short upper lip Lop ear Midface retrusion Scleral staphyloma Short 2nd toe Posterior staphyloma Cleft palate Wide nasal bridge Immunodeficiency Recurrent infections Severe intrauterine growth retardation Hydrocele testis Genu varum Radial deviation of finger Clumsiness Aortic valve stenosis Spontaneous abortion Bicuspid aortic valve Scrotal hypoplasia Infantile muscular hypotonia Nasal speech Emotional lability Cutaneous photosensitivity Large hands Inflammation of the large intestine Albinism Skeletal muscle hypertrophy Decreased muscle mass External genital hypoplasia Narrow nasal bridge Primary amenorrhea Decreased fetal movement Optic nerve coloboma Thin upper lip vermilion Pulmonary artery atresia Chorioretinitis Widely-spaced maxillary central incisors Absent nasal bridge Syndactyly Upslanted palpebral fissure Narrow mouth Neonatal hypotonia Oligohydramnios Abnormality of the nervous system Arachnodactyly Short palm Downturned corners of mouth Short foot Sepsis Febrile seizures Chorioretinal coloboma Short chin Impaired pain sensation Prominent occiput Distal lower limb amyotrophy Short 5th metacarpal Calcific stippling Polyneuritis Elevated levels of phytanic acid Papule Increased intracranial pressure Cortical dysplasia Anosmia Macule Nevus flammeus Neoplasm of the pancreas Abnormality of the pancreas Rhabdomyosarcoma Abnormality of the pleura Third degree atrioventricular block Hammertoe Sensorimotor neuropathy Retinal hamartoma Respiratory arrest Metabolic acidosis Muscle stiffness Hyperammonemia Myoglobinuria Hypoketotic hypoglycemia Exercise-induced myalgia Decreased plasma carnitine Dicarboxylic aciduria Rhizomelia Nonketotic hypoglycemia Exercise-induced myoglobinuria Hepatocellular necrosis Exercise-induced rhabdomyolysis Flexion contracture Pes cavus Skeletal dysplasia Macrodactyly Confetti-like hypopigmented macules Dental crowding Hip dislocation Spasticity Brachydactyly Abnormality of the skeletal system Hypoplasia of the corpus callosum Absent speech Agenesis of corpus callosum Corneal opacity Facial asymmetry Connective tissue nevi Joint hyperflexibility Highly arched eyebrow Microcornea Prominent nose Convex nasal ridge Intellectual disability, profound Thick lower lip vermilion Projection of scalp hair onto lateral cheek Premature chromatid separation Subependymal giant-cell astrocytoma Focal-onset seizure Glaucoma Carcinoma Skin rash Retinal detachment Chest pain Gliosis Brain atrophy Heterotopia Flank pain Hypoplasia of dental enamel CNS hypomyelination Polycystic kidney dysplasia Nephroblastoma Renal neoplasm White hair Brain neoplasm Fibroma Myeloid leukemia Striae distensae Abnormal mitochondrial shape Heart block Primary adrenal insufficiency Distal arthrogryposis Hashimoto thyroiditis Abnormality of visual evoked potentials Neonatal hypoglycemia Vitiligo Xerostomia Hypoparathyroidism Thyroiditis Mitochondrial myopathy Progressive external ophthalmoplegia Transient ischemic attack Delusions Facial diplegia Aortic dissection Renal tubular dysfunction Abnormality of immune system physiology Hyperthyroidism Increased CSF lactate Bundle branch block Personality changes Intestinal obstruction Bifid scrotum Mask-like facies Hemiplegia/hemiparesis Focal segmental glomerulosclerosis Overlapping toe Aphasia Basal ganglia calcification Vestibular dysfunction Dysphasia Hyperkalemia Visual field defect Prolonged QT interval Multiple lipomas Vertebral fusion Visual hallucinations Cerebral ischemia Hyponatremia Hemeralopia Amaurosis fugax Auditory hallucinations Abnormal nerve conduction velocity Renal Fanconi syndrome Tubulointerstitial abnormality Abnormality of the cerebellar vermis Crohn's disease Abnormal macular morphology Spontaneous hematomas Spotty hypopigmentation Paronychia Abnormal mitochondrial morphology Edema of the dorsum of hands Cochlear malformation Progressive night blindness Cochlear degeneration Gastroparesis Leber optic atrophy Reduced consciousness/confusion Proximal tubulopathy Gait imbalance Anterior hypopituitarism Stroke-like episode Seborrheic dermatitis Left ventricular failure Speech apraxia Abnormality of peripheral nerve conduction Ileus Persistence of primary teeth Hemianopia Abnormality of the renal tubule Episodic vomiting Motor polyneuropathy Dysesthesia Psychomotor deterioration Muscle fiber atrophy Writer's cramp Ophthalmoparesis Abnormality of mitochondrial metabolism Hypopigmentation of hair Skeletal muscle atrophy Narrow palm Hypopnea Almond-shaped palpebral fissure Poor gross motor coordination Acromicria Anemia Hyperreflexia Tremor Central adrenal insufficiency Gait disturbance Cerebellar atrophy Diarrhea Areflexia Cerebellar hypoplasia Dementia Developmental regression Hypoplastic labia minora Temperature instability Arthrogryposis multiplex congenita Ocular albinism Iris hypopigmentation Abnormality of lipid metabolism Central hypotonia Overweight Acrocyanosis Hypoplasia of the fovea Chromosome breakage Hypothermia Triangular mouth Cor pulmonale Abdominal obesity Anteverted ears Clitoral hypoplasia Frontal upsweep of hair Erysipelas Disseminated intravascular coagulation Protruding ear Nausea and vomiting Hemiplegia Mutism EMG abnormality Type I diabetes mellitus Purpura External ophthalmoplegia Reduced tendon reflexes Ragged-red muscle fibers Ischemic stroke Schizophrenia Clonus Hyperkinesis Easy fatigability Growth abnormality Chronic kidney disease Cachexia Decreased nerve conduction velocity Hypercalciuria Truncal ataxia Hallucinations Anal atresia Generalized myoclonic seizures Dysmetria Paresthesia Confusion Vertigo Lactic acidosis Postural instability Abnormal cerebellum morphology Sensory impairment Gingival overgrowth Migraine Increased serum lactate Memory impairment Nephrotic syndrome Status epilepticus Ventricular hypertrophy Atrial fibrillation Hypertrichosis Oral aversion



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