Congestive heart failure, and Leukodystrophy

Diseases related with Congestive heart failure and Leukodystrophy

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


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Medium match C11ORF73-RELATED AUTOSOMAL RECESSIVE HYPOMYELINATING LEUKODYSTROPHY


Hypomyelinating leukodystrophy-13 is an autosomal recessive neurodegenerative disorder characterized by infantile onset of delayed psychomotor development, axial hypotonia, and spasticity associated with delayed myelination and periventricular white matter abnormalities on brain imaging. More variable neurologic deficits, such as visual impairment, may also occur. Some patients may experience cardiac failure during acute illness (summary by Edvardson et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of HLD, see {312080}.

C11ORF73-RELATED AUTOSOMAL RECESSIVE HYPOMYELINATING LEUKODYSTROPHY Is also known as c11orf73-related autosomal recessive hypomyelinating leukoencephalopathy|hypomyelinating leukodystrophy due to hikeshi deficiency

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about C11ORF73-RELATED AUTOSOMAL RECESSIVE HYPOMYELINATING LEUKODYSTROPHY

Medium match PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY


Phosphoenolpyruvate carboxykinase (PEPCK) deficiency is a gluconeogenesis disorder that results from impairment in the enzyme PEPCK, and comprising cytosolic (PEPCK1) and mitochondrial (PEPCK2) forms of enzyme deficiency. Onset of symptoms is neonatal or a few months after birth and includes hypoglycemia associated with acute episodes of severe lactic acidosis, progressive neurological deterioration, severe liver failure, renal tubular acidosis and Fanconi syndrome. Patients also present progressive multisystem damage with failure to thrive, muscular weakness and hypotonia, developmental delay with seizures, spasticity, lethargy, microcephaly and cardiomyopathy. To date, there is no conclusive evidence of the existence of an isolated form of this disorder.

PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY Is also known as pepck deficiency|pc deficiency|leigh necrotizing encephalopathy due to pyruvate carboxylase deficiency|ataxia with lactic acidosis ii|leigh syndrome due to pyruvate carboxylase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY

Medium match REFSUM DISEASE, CLASSIC


Refsum disease is an autosomal recessive inborn error of lipid metabolism classically characterized by a tetrad of clinical abnormalities: retinitis pigmentosa, peripheral neuropathy, cerebellar ataxia, and elevated protein levels in the cerebrospinal fluid (CSF) without an increase in the number of cells. However, not all patients show all these features. All patients have accumulation of an unusual branched-chain fatty acid, phytanic acid, in blood and tissues. Other variable features include cardiac dysfunction, nerve deafness, ichthyosis, and multiple epiphyseal dysplasia (review by Skjeldal et al., 1987).Increased levels of phytanic acid can also be found in peroxisomal biogenesis disorders; see Zellweger syndrome (see {214100}) (Skjeldal et al., 1987).Infantile Refsum disease (see PBD1B, {601539}) is a distinct disorder with a different phenotype and genetic basis.A phenotype clinically indistinguishable from that of classic Refsum disease (PBD9B ), but with a different biochemical profile, can be caused by mutation in the gene encoding peroxin-7 (PEX7 ) on chromosome 6q.

REFSUM DISEASE, CLASSIC Is also known as heredopathia atactica polyneuritiformis|hmsn iv|phytanic acid oxidase deficiency|hereditary motor and sensory neuropathy iv|hmsn4|refsum disease, adult, 1

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about REFSUM DISEASE, CLASSIC

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Medium match ISOLATED SUCCINATE-COQ REDUCTASE DEFICIENCY


Mitochondrial complex II deficiency is an autosomal recessive disorder with a highly variable phenotype. Some patients have multisystem involvement of the brain, heart, muscle, liver, and kidneys resulting in death in infancy, whereas others have only isolated cardiac or muscle involvement with onset in adulthood and normal cognition. Measurement of complex II activity in muscle is the most reliable means of diagnosis; however, there is no clear correlation between residual complex II activity and severity or clinical outcome. In some cases, treatment with riboflavin may have clinical benefit (summary by Jain-Ghai et al., 2013).

ISOLATED SUCCINATE-COQ REDUCTASE DEFICIENCY Is also known as isolated succinate-ubiquinone reductase deficiency|isolated succinate-coenzyme q reductase deficiency|isolated mitochondrial respiratory chain complex ii deficiency|succinate coq reductase deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ISOLATED SUCCINATE-COQ REDUCTASE DEFICIENCY

Medium 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

Medium match ISOLATED COMPLEX I DEFICIENCY


Isolated complex I deficiency is a rare inborn error of metabolism due to mutations in nuclear or mitochondrial genes encoding subunits or assembly factors of the human mitochondrial complex I (NADH: ubiquinone oxidoreductase) and is characterized by a wide range of manifestations including marked and often fatal lactic acidosis, cardiomyopathy, leukoencephalopathy, pure myopathy and hepatopathy with tubulopathy. Among the numerous clinical phenotypes observed are Leigh syndrome, Leber hereditary optic neuropathy and MELAS syndrome (see these terms).

ISOLATED COMPLEX I DEFICIENCY Is also known as isolated nadh-ubiquinone reductase deficiency|nadh:q(1) oxidoreductase deficiency|isolated nadh-coq reductase deficiency|isolated mitochondrial respiratory chain complex i deficiency|isolated nadh-coenzyme q reductase deficiency|nadh-coenzyme q reductase

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about ISOLATED COMPLEX I DEFICIENCY

Medium match JACOBSEN SYNDROME


Jacobsen syndrome is a multiple congenital anomaly/mental retardation (MCA/MR) contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11.

JACOBSEN SYNDROME Is also known as monosomy 11qter|del(11)(q23.3)|distal deletion 11q|telomeric deletion 11q|distal monosomy 11q|del(11)(qter)|chromosome 11q deletion syndrome|partial 11q monosomy syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about JACOBSEN SYNDROME

Low match GLYCOGEN STORAGE DISEASE II; GSD2


Glycogen storage disease II, an autosomal recessive disorder, is the prototypic lysosomal storage disease. In the classic infantile form (Pompe disease), cardiomyopathy and muscular hypotonia are the cardinal features; in the juvenile and adult forms, involvement of skeletal muscles dominates the clinical picture Matsuishi et al. (1984).

GLYCOGEN STORAGE DISEASE II; GSD2 Is also known as amd|cardiomegalia glycogenica diffusa|alpha-1,4-glucosidase deficiency|gaa deficiency|acid maltase deficiency|pompe disease|glycogenosis, generalized, cardiac form|acid alpha-glucosidase deficiency|gsd ii

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about GLYCOGEN STORAGE DISEASE II; GSD2

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 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

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

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Failure to thrive Common - Between 50% and 80% cases
Cardiomyopathy Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Ptosis

Uncommon Symptoms - Between 30% and 50% cases


Arrhythmia

Common Symptoms - More than 50% cases


Ataxia

Uncommon Symptoms - Between 30% and 50% cases


Spasticity Hypertrophic cardiomyopathy Hypoglycemia Vomiting Nystagmus Limb muscle weakness Muscular hypotonia Acidosis Intellectual disability Cardiomegaly Respiratory failure Respiratory distress Hearing impairment Optic atrophy Dysphagia Muscle weakness Feeding difficulties Lactic acidosis Increased serum lactate Hepatomegaly Macrocephaly Proximal muscle weakness Areflexia Pain Left ventricular hypertrophy Ventricular hypertrophy Myopathy Visual impairment Growth delay Fatigue Cataract Peripheral neuropathy Sensorineural hearing impairment Blindness Hyperreflexia Wolff-Parkinson-White syndrome Difficulty walking Scoliosis Dilated cardiomyopathy Myalgia Renal cyst Babinski sign Pigmentary retinopathy Dystonia Dyspnea Headache Ketosis Gait disturbance Flexion contracture Motor delay Dysarthria Abnormality of the cerebral white matter Renal insufficiency Encephalopathy Strabismus Metabolic acidosis Tachypnea Ragged-red muscle fibers Abnormal facial shape Respiratory insufficiency Stroke Talipes equinovarus Exercise intolerance Behavioral abnormality Gliosis Generalized muscle weakness Clonus

Rare Symptoms - Less than 30% cases


Abnormality of the liver Hypothyroidism Lethargy Nausea Gait ataxia Telecanthus Depressed nasal bridge Elevated serum creatine phosphokinase Fever Edema Recurrent respiratory infections High forehead Depressivity Hepatic steatosis Cardiorespiratory arrest Coma Hernia Progressive cerebellar ataxia Abnormal cerebellum morphology Micrognathia Intrauterine growth retardation Skeletal muscle atrophy Atrial septal defect Cerebellar atrophy Patent ductus arteriosus Premature birth Agenesis of corpus callosum Kyphoscoliosis Chest pain Feeding difficulties in infancy Irritability Pallor Abnormal pyramidal sign Talipes Brain atrophy Optic disc pallor Pachygyria Slurred speech Heterotopia Dilatation Wide anterior fontanel Cardiac arrest Intellectual disability, mild Scapular winging Pancreatitis Hydrocephalus Polycystic kidney dysplasia Coarctation of aorta Peripheral demyelination Progressive proximal muscle weakness Acute pancreatitis Optic neuropathy Osteopenia Hyperactivity Incoordination Aspiration Abnormality of movement Abnormal mitochondria in muscle tissue Abnormality of eye movement Pes cavus Developmental regression Myoclonus Attention deficit hyperactivity disorder Diarrhea Ketoacidosis Cognitive impairment Microcephaly Pes planus Retinopathy Short stature Skin rash Hammertoe Necrotizing encephalopathy Hyporeflexia Sensory impairment Tachycardia Congenital lactic acidosis Respiratory tract infection Renal tubular acidosis CNS hypomyelination Easy fatigability Hypertonia Absent speech Muscular hypotonia of the trunk Intellectual disability, moderate Ketonuria Rhabdomyolysis Hyperammonemia Oral-pharyngeal dysphagia Wide nasal bridge Leukoencephalopathy Pneumonia Tetraplegia Generalized myoclonic seizures Neonatal hypotonia Difficulty running Partial agenesis of the corpus callosum Abdominal wall muscle weakness Shortened PR interval Exertional dyspnea Dilatation of the cerebral artery Abnormal CNS myelination Cerebral cortical atrophy Firm muscles Kyphosis Pelvic girdle muscle weakness Stroke-like episode Diaphragmatic paralysis Visual loss Diabetes mellitus Increased muscle fatiguability Chorioretinal coloboma Reduced visual acuity Falls Azoospermia Abnormal palate morphology Infantile muscular hypotonia Sensory neuropathy Inability to walk Schizophrenia Pyloric stenosis Hand polydactyly Trigonocephaly Ectropion Emphysema Atrioventricular canal defect Heart murmur Flat occiput Peripheral axonal neuropathy Vertigo Unsteady gait Aplasia/Hypoplasia of the eyebrow Dysmetria Hypoplastic left heart Lower limb muscle weakness Abnormality of the foot Dysphasia Long hallux Nasal speech Giant platelets Abnormality of the curvature of the vertebral column Megakaryocyte dysplasia Congenital thrombocytopenia Ectopic anus Bilateral camptodactyly Mitral stenosis Arteria lusoria Internal hemorrhage Annular pancreas Abnormality of the anus Toe clinodactyly Macular hypoplasia Duodenal atresia Clitoral hypoplasia Central hypothyroidism Broad hallux phalanx Nuclear cataract Aplasia/Hypoplasia of the earlobes Labial hypoplasia Abnormal thrombocyte morphology U-Shaped upper lip vermilion Broad columella Nasolacrimal duct obstruction Urethral stenosis Abnormality of the head Splenomegaly Eyelid coloboma Atrioventricular block Urinary incontinence Delayed gross motor development Respiratory insufficiency due to muscle weakness Atherosclerosis Macular degeneration Slender finger Natal tooth Transposition of the great arteries EMG abnormality Type II diabetes mellitus Abnormality of the cardiovascular system Wheezing Macroglossia Chronic constipation Muscular dystrophy Paralysis Conductive hearing impairment Bipolar affective disorder EEG abnormality Abnormal eyelash morphology Double outlet right ventricle Missing ribs Diastasis recti Gastroesophageal reflux Retinal dysplasia Abnormality of metabolism/homeostasis Progressive muscle weakness Concentric hypertrophic cardiomyopathy Neurodegeneration Nevus Renal cell carcinoma Hamartoma Infantile spasms Nephroblastoma Aortic aneurysm Precocious puberty Cafe-au-lait spot Hypoplasia of dental enamel Subcutaneous nodule Generalized-onset seizure Cerebral calcification Specific learning disability Focal-onset seizure Hypopigmentation of the skin Skin tags Sleep disturbance Retinal detachment Cough Autistic behavior Abnormality of the kidney Carcinoma Autism Glaucoma Hypertension Neoplasm Atrophic superior cerebellar peduncle Impaired visually enhanced vestibulo-ocular reflex Structural foot deformity Hyperventilation Abnormality of the respiratory system Spinal cord posterior columns myelin loss Angiofibromas Achromatic retinal patches Subungual fibromas Rhabdomyoma Connective tissue nevi Pulmonary lymphangiomyomatosis Chordoma Cortical tubers Cardiac rhabdomyoma Ungual fibroma Dental enamel pits Hypomelanotic macule Subependymal nodules Optic nerve glioma Renal angiomyolipoma Generalized hypopigmentation Premature chromatid separation Ependymoma Shagreen patch Flank pain Adenoma sebaceum Fibroma Chylothorax Gingival fibromatosis Pneumothorax Astrocytoma Brain neoplasm White hair Renal neoplasm Abolished vibration sense Palmar hyperhidrosis Chorea Ventricular arrhythmia Urinary bladder sphincter dysfunction Heart block Abnormality of visual evoked potentials Abnormal EKG Thoracic scoliosis Hyperactive deep tendon reflexes Visual field defect Glucose intolerance Decreased motor nerve conduction velocity Sensory axonal neuropathy Impaired vibratory sensation Dysdiadochokinesis Cachexia Reduced tendon reflexes Myocardial fibrosis Spastic paraparesis Paraparesis Muscle stiffness Truncal ataxia Insulin resistance Spastic gait Limb ataxia Lower limb spasticity Involuntary movements Clumsiness Palpitations Atrial fibrillation Intention tremor Increased reactive oxygen species production Areflexia of lower limbs Temporal optic disc pallor Decreased sensory nerve conduction velocity Abnormality of the dentate nucleus Decreased pyruvate carboxylase activity Mitochondrial malic enzyme reduced Cervical spinal cord atrophy Muscular subvalvular aortic stenosis Decreased amplitude of sensory action potentials Hemifacial hypertrophy Abnormality of the autonomic nervous system Incomprehensible speech Upper limb amyotrophy Cerebellar cortical atrophy Multicystic kidney dysplasia Diabetic ketoacidosis Reduced systolic function Hyposmia Hand muscle atrophy Sinus tachycardia Abnormal saccadic eye movements Abnormality of cardiovascular system physiology Positive Romberg sign Lower limb amyotrophy Abnormal echocardiogram Poor fine motor coordination T-wave inversion Subvalvular aortic stenosis Asymmetric septal hypertrophy Impaired proprioception Gait imbalance Spinocerebellar tract degeneration Holoprosencephaly Hypertelorism Horseshoe kidney Hemiplegia Chronic fatigue Excessive daytime somnolence Myoglobinuria Drowsiness Fatigable weakness Acute kidney injury Glycosuria Difficulty climbing stairs Restrictive ventilatory defect Ventricular fibrillation Stridor Back pain Hypoketotic hypoglycemia Poor head control Mutism Spastic tetraparesis Type I diabetes mellitus Decreased liver function Anorexia Renal dysplasia Abnormality of the genital system Tetraparesis Waddling gait Aciduria Muscle cramps Organic aciduria Exercise-induced myalgia Joint hyperflexibility Impaired mastication Reye syndrome-like episodes Reduced protein C activity Elevated plasma acylcarnitine levels Ketotic hypoglycemia Increased muscle lipid content Glutaric acidemia Arthralgia of the hip Gastrointestinal inflammation Narcolepsy Cataplexy Renal cortical cysts Limb tremor Nonketotic hypoglycemia Medulloblastoma Hypoglycemic coma Personality disorder Progressive spastic quadriplegia Glutaric aciduria Oliguria Generalized aminoaciduria Respiratory arrest Loss of ability to walk Abnormal corpus callosum morphology Abnormality of the renal tubule Episodic vomiting Proximal tubulopathy Pulmonary hypoplasia Nausea and vomiting Hypersarcosinemia Neuronal loss in the cerebral cortex Epiphyseal dysplasia Bilateral ptosis Anosmia Progressive hearing impairment Sensorimotor neuropathy Polyneuropathy Retinal degeneration Ichthyosis Nyctalopia Rod-cone dystrophy Delayed speech and language development Chronic metabolic acidosis Increased CSF protein Periventricular cysts Increased head circumference Proximal renal tubular acidosis Cystinuria Increased serum pyruvate Hyperalaninemia Dysgraphia Periventricular leukomalacia Athetosis Intellectual disability, severe Abnormality of the periventricular white matter Delayed myelination Epiphyseal stippling Multiple epiphyseal dysplasia Congenital cataract Hemolytic-uremic syndrome Abnormality of the pinna Hyperlordosis Elevated hepatic transaminase Jaundice Arthralgia Weight loss Tremor Stress/infection-induced lactic acidosis Left ventricular systolic dysfunction Decreased activity of mitochondrial complex II Progressive leukoencephalopathy Increased intramyocellular lipid droplets Paraganglioma Miosis Left ventricular noncompaction Preeclampsia External ophthalmoplegia Congenital hip dislocation Mitral regurgitation Spastic tetraplegia Ophthalmoplegia Dementia Elevated levels of phytanic acid Hyperoxaluria Short fourth metatarsal Abnormal renal physiology Ethylmalonic aciduria Fatigable weakness of distal limb muscles Bone marrow hypocellularity Hypogonadism Leukemia Finger syndactyly Abnormal cardiac septum morphology Coloboma Craniosynostosis Postnatal growth retardation Camptodactyly Low-set, posteriorly rotated ears Hydronephrosis Thin upper lip vermilion Retrognathia Osteoporosis Neurological speech impairment Prominent forehead Constipation Clinodactyly of the 5th finger Inguinal hernia Abnormal heart morphology Clinodactyly Pectus excavatum Hypospadias Thrombocytopenia Abnormality of cardiovascular system morphology Recurrent infections Cerebral atrophy Small for gestational age Hip dislocation Immunodeficiency Growth hormone deficiency Spina bifida Aortic valve stenosis Short toe Sinusitis Short thumb Amblyopia Abnormal form of the vertebral bodies Pancytopenia Eczema Dehydration Microdontia Otitis media Webbed neck Dolichocephaly Decreased antibody level in blood Intestinal malrotation Postural instability Microcornea Single transverse palmar crease Iris coloboma Bruising susceptibility Anal atresia Smooth philtrum Facial asymmetry Narrow chest Toe syndactyly Microphthalmia Syndactyly Fatigable weakness of neck muscles Migraine Basal ganglia calcification Weak cry Poor eye contact Progressive spasticity Pericardial effusion Global brain atrophy Adrenal insufficiency Shock Horizontal nystagmus Congenital diaphragmatic hernia Cyanosis Febrile seizures Dyskinesia Mitochondrial myopathy Hepatic failure Stage 5 chronic kidney disease Severe global developmental delay Apnea Mental deterioration Abnormality of the eye Anemia Abnormality of blood glucose concentration Electron transfer flavoprotein-ubiquinone oxidoreductase defect Hepatic periportal necrosis Defective dehydrogenation of isovaleryl CoA and butyryl CoA Abnormality of branched chain family amino acid metabolism Progressive encephalopathy Aspiration pneumonia Long philtrum Exercise-induced lactic acidemia Short nose Abnormality of the dentition Short neck Anteverted nares Ventriculomegaly Ventricular septal defect Frontal bossing Downslanted palpebral fissures Brachydactyly Epicanthus Low-set ears Cryptorchidism Acute necrotizing encephalopathy Nemaline bodies Progressive macrocephaly Cardiogenic shock Macrovesicular hepatic steatosis Infantile encephalopathy Biventricular hypertrophy Axial dystonia Decreased activity of mitochondrial respiratory chain Stiff neck Cerebral edema Severe lactic acidosis Corpus callosum atrophy Increased CSF lactate Projection of scalp hair onto lateral cheek



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