Congestive heart failure, and Autistic behavior

Diseases related with Congestive heart failure and Autistic behavior

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


Top matches:

Low 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

Low 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

Low 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:

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

Low 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

Low 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

Low 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

Low match GAUCHER DISEASE TYPE 2


Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD; see this term). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2.

GAUCHER DISEASE TYPE 2 Is also known as infantile cerebral gaucher disease|acute neuronopathic gaucher disease

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET MENDELIAN

More info about GAUCHER DISEASE TYPE 2

Low 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

Low match MELAS


MELAS (Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke) syndrome is a rare progressive multisystemic disorder characterized by encephalomyopathy, lactic acidosis, and stroke-like episodes. Other features include endocrinopathy, heart disease, diabetes, hearing loss, and neurological and psychiatric manifestations.

MELAS Is also known as mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes|melas syndrome|mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MELAS

Top 5 symptoms//phenotypes associated to Congestive heart failure and Autistic behavior

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

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

Common Symptoms - More than 50% cases


Vomiting

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia Dilatation Attention deficit hyperactivity disorder Cognitive impairment Growth delay Motor delay Behavioral abnormality Muscular hypotonia Nystagmus Hearing impairment Optic atrophy Feeding difficulties Intrauterine growth retardation Hyperactivity Failure to thrive Myopathy Atrial septal defect Cardiomyopathy Ataxia Respiratory distress Sensorineural hearing impairment Hepatomegaly Wolff-Parkinson-White syndrome Apnea Specific learning disability Pain Renal insufficiency Respiratory insufficiency Hypertension Strabismus Intellectual disability, mild Ventriculomegaly Encephalopathy Micrognathia Abnormal facial shape Hypoglycemia Ptosis Lethargy Irritability Cardiac arrest Stroke Psychosis Precocious puberty Generalized myoclonic seizures Generalized-onset seizure Cerebral calcification Spasticity Renal cyst Short stature Feeding difficulties in infancy Mental deterioration Abnormality of the liver EEG abnormality Hypothyroidism Scoliosis Microcephaly Dyspnea Developmental regression Myoclonus Aortic aneurysm Visual impairment Abnormality of the pinna Anemia Talipes equinovarus Macrocephaly Brain atrophy Myopia Gastroesophageal reflux Nausea Fatigue Respiratory failure Dysphagia Edema Dystonia Hyporeflexia Bilateral ptosis Hypertelorism Neoplasm Fever Blindness Exercise intolerance Peripheral neuropathy Cataract Kyphosis Cardiomegaly Cardiorespiratory arrest Coma Hypertrophic cardiomyopathy Adrenal insufficiency Muscle weakness Myalgia Acidosis

Rare Symptoms - Less than 30% cases


Cryptorchidism Weight loss Renal agenesis Spontaneous hematomas Photophobia Bilateral sensorineural hearing impairment Delayed speech and language development Diabetes mellitus Abnormality of the dentition Short toe Aortic regurgitation Unilateral renal agenesis Pruritus Hypogonadism Osteoporosis Esotropia Delayed puberty Carious teeth Hip dysplasia Psychotic episodes Pulmonary embolism Hypogonadotrophic hypogonadism Low-set ears Type II diabetes mellitus Depressed nasal bridge Abnormality of the cardiovascular system Amenorrhea Intellectual disability, severe Dolichocephaly Microphthalmia Patent ductus arteriosus Polymicrogyria Agenesis of corpus callosum Gait ataxia Short nose Coloboma Corneal opacity Short neck Poor suck Hernia Pigmentary retinopathy Abnormality of eye movement Lactic acidosis Hepatic failure Abnormal cerebellum morphology Delayed skeletal maturation Migraine Increased serum lactate Febrile seizures Cyanosis Ventricular hypertrophy Recurrent respiratory infections Hypertonia Diarrhea Axial dystonia Left ventricular hypertrophy Increased CSF lactate Aspiration pneumonia Mitochondrial myopathy Pancreatitis Basal ganglia calcification Pallor Dementia Obesity Anorexia Micropenis Hyponatremia Ragged-red muscle fibers Talipes Small hand Tapered finger Congenital diaphragmatic hernia Purpura Narrow palpebral fissure Decreased body weight Abdominal pain Pulmonary arterial hypertension Hyperreflexia Skeletal muscle atrophy Decreased fetal movement Cerebellar atrophy Ophthalmoplegia Areflexia Jaundice Osteopenia Aspiration Poor eye contact Infantile spasms Subependymal nodules Retinopathy Hepatosplenomegaly Rod-cone dystrophy Optic nerve glioma Renal angiomyolipoma Angiofibromas Visual loss Chordoma Cafe-au-lait spot Cardiac rhabdomyoma Congenital cataract Hypomelanotic macule Dental enamel pits Ungual fibroma Flexion contracture Pulmonary lymphangiomyomatosis Achromatic retinal patches Dilated cardiomyopathy Subungual fibromas Rhabdomyoma Hepatic steatosis Nyctalopia Shagreen patch Muscle cramps Multiple renal cysts Aplasia/Hypoplasia of the corpus callosum Hypopigmented skin patches Subcutaneous nodule Atrioventricular block Iris coloboma Abnormality of neuronal migration Anxiety Hamartoma Renal cell carcinoma Elevated serum creatine phosphokinase Ependymoma Skin tags Abnormality of the respiratory system Astrocytoma Gingival fibromatosis Pneumothorax Progressive visual loss Chylothorax Polyneuropathy Adenoma sebaceum Ichthyosis Metabolic acidosis Cortical tubers Headache Intellectual disability, moderate Generalized hypopigmentation Drowsiness Sudden cardiac death Gliosis Hypopigmentation of the skin Pericardial effusion Sleep disturbance Hyperammonemia Cough Tachypnea Rhabdomyolysis Bradycardia Disseminated intravascular coagulation High palate Epicanthus Hypoplastic labia minora Exercise-induced myalgia Syndactyly Central adrenal insufficiency Clinodactyly Prominent forehead Hypoketotic hypoglycemia Temperature instability Triangular mouth Erysipelas Hypopnea Frontal upsweep of hair Clitoral hypoplasia Anteverted ears Poor fine motor coordination Abdominal obesity Cor pulmonale Hypothermia Ocular albinism Chromosome breakage Hypoplasia of the fovea Acrocyanosis Narrow palm Almond-shaped palpebral fissure Overweight Growth hormone deficiency CSF pleocytosis Erlenmeyer flask deformity of the femurs Arthrogryposis multiplex congenita Decreased beta-glucocerebrosidase protein and activity Hematological neoplasm Abnormal platelet aggregation Cardiac valve calcification Generalized tonic-clonic seizures Neurological speech impairment Erythema Protruding ear Proteinuria EEG with temporal sharp waves Cerebral cortical atrophy Cerebellar hypoplasia Constipation Depressivity Cerebral atrophy Gait disturbance Slowed horizontal saccades Tremor Dysarthria Acromicria Poor gross motor coordination Oligomenorrhea Sepsis Short foot Short palm Skeletal muscle hypertrophy Aortic valve stenosis Muscle stiffness Albinism Genu valgum Glucose intolerance Infertility Arachnodactyly Increased body weight Decreased liver function Inflammation of the large intestine Downturned corners of mouth Truncal obesity Large hands Emotional lability Radial deviation of finger Hyperinsulinemia Failure to thrive in infancy Nasal speech Infantile muscular hypotonia Scrotal hypoplasia Sleep apnea Bicuspid aortic valve Spontaneous abortion Decreased muscle mass External genital hypoplasia Abnormality of lipid metabolism Full cheeks Upslanted palpebral fissure Myoglobinuria Narrow forehead Iris hypopigmentation Oligohydramnios Gastrointestinal hemorrhage Hypoventilation Narrow mouth Thin upper lip vermilion Cutaneous photosensitivity Primary amenorrhea Hypopigmentation of hair Hypermetropia Neonatal hypotonia Abnormality of the nervous system Respiratory tract infection Striae distensae Impaired pain sensation Leukemia Clumsiness Myeloid leukemia Narrow nasal bridge Insulin resistance Polyphagia Central hypotonia Fibroma Nausea and vomiting Visual hallucinations Abnormality of the renal tubule Hemianopia Ileus Proximal tubulopathy Abnormality of peripheral nerve conduction Retinal pigment epithelial atrophy Speech apraxia Left ventricular failure Seborrheic dermatitis Stroke-like episode Anterior hypopituitarism Gait imbalance Reduced consciousness/confusion Cerebral ischemia Tubulointerstitial nephritis Motor polyneuropathy Renal tubular dysfunction Aortic dissection Facial diplegia Delusions Transient ischemic attack Posterior subcapsular cataract Progressive external ophthalmoplegia Hypoparathyroidism Heart block Xerostomia Vitiligo Neonatal hypoglycemia Abnormality of visual evoked potentials Hashimoto thyroiditis Episodic vomiting Dysesthesia Distal arthrogryposis Paronychia Morphological abnormality of the inner ear Morphological abnormality of the vestibule of the inner ear Bilateral intracranial calcifications Episodic quadriplegia Abnormality of acid-base homeostasis Homonymous hemianopia Abnormal cochlea morphology Paralytic ileus Abnormal mitochondrial shape Cochlear degeneration Progressive night blindness Cochlear malformation Edema of the dorsum of hands Abnormal mitochondrial morphology Spotty hypopigmentation Psychomotor deterioration Abnormal macular morphology Hemeralopia Crohn's disease Abnormality of the cerebellar vermis Tubulointerstitial abnormality Renal Fanconi syndrome Abnormal nerve conduction velocity Auditory hallucinations Amaurosis fugax Gastroparesis Leber optic atrophy Persistence of primary teeth Writer's cramp Muscle fiber atrophy Atopic dermatitis Primary adrenal insufficiency Malabsorption Hemiparesis Reduced tendon reflexes External ophthalmoplegia Macular degeneration Type I diabetes mellitus Generalized hirsutism EMG abnormality Truncal ataxia Clonus Cerebral visual impairment Hallucinations Abnormality of retinal pigmentation Gingival overgrowth Involuntary movements Hypertrichosis Atrial fibrillation Mutism Status epilepticus Laryngeal stridor Nephrotic syndrome Memory impairment Sensory impairment Postural instability Nephropathy Hirsutism Peripheral axonal neuropathy Vertigo Confusion Paresthesia Dysmetria Anal atresia Ischemic stroke Schizophrenia Abnormality of immune system physiology Focal segmental glomerulosclerosis Thyroiditis Hyperthyroidism Glomerulopathy Progressive sensorineural hearing impairment Vertebral fusion Multiple lipomas Prolonged QT interval Visual field defect Hyperkalemia Dysphasia Vestibular dysfunction Aphasia Bundle branch block Overlapping toe Hemiplegia/hemiparesis Goiter Hypercalciuria Hyperkinesis Easy fatigability Growth abnormality Chronic kidney disease Cachexia Decreased nerve conduction velocity Hemiplegia Mask-like facies Abnormality of mitochondrial metabolism Ophthalmoparesis Personality changes Intestinal obstruction Aplasia/Hypoplasia of the cerebellum Bifid scrotum Orthopnea Epileptic spasms Giant cell hepatitis Wide mouth Hand polydactyly Abnormality of the pleura Pyloric stenosis Microretrognathia Hemivertebrae Pointed chin Third degree atrioventricular block Underdeveloped nasal alae Flat face Smooth philtrum Macrodactyly Broad forehead Blepharophimosis Deeply set eye Anophthalmia Macrotia Polydactyly Posteriorly rotated ears Inguinal hernia Retinal hamartoma Midface retrusion Recurrent infections Immunodeficiency Malar flattening Anteverted nares Wide nasal bridge Cleft palate Confetti-like hypopigmented macules Language impairment Combined immunodeficiency Short 2nd toe Nevus flammeus Abnormality of movement Cortical dysplasia Limb muscle weakness Severe global developmental delay Abnormal pyramidal sign Macule Multiple cafe-au-lait spots Abnormality of the eye Muscular hypotonia of the trunk Proximal muscle weakness Kyphoscoliosis Pneumonia Babinski sign Neoplasm of the pancreas Long nose Gingivitis Abnormality of the pancreas Rhabdomyosarcoma Absent nasal bridge Widely-spaced maxillary central incisors Chorioretinitis Pulmonary artery atresia Optic nerve coloboma Hydrocele testis Missing ribs Severe intrauterine growth retardation Arnold-Chiari type I malformation Severe combined immunodeficiency Syringomyelia Posterior staphyloma Scleral staphyloma Prominent occiput Nevus Coarse facial features Abnormality of the cerebral white matter Clinodactyly of the 5th finger Abnormal heart morphology Retinal detachment Absent speech Long philtrum Hypoplasia of the corpus callosum Chest pain Ventricular septal defect Abnormality of the skeletal system Frontal bossing Downslanted palpebral fissures Focal-onset seizure Hydronephrosis Brachydactyly Heterotopia Hypoplasia of dental enamel CNS hypomyelination Polycystic kidney dysplasia Nephroblastoma Hyperventilation Renal neoplasm White hair Brain neoplasm Projection of scalp hair onto lateral cheek Connective tissue nevi Premature chromatid separation Pes planus Telecanthus Lop ear Subependymal giant-cell astrocytoma Lens luxation Short upper lip Colpocephaly Profound global developmental delay Hypoplasia of teeth Neurogenic bladder Congenital nystagmus Bowing of the legs Chorioretinal coloboma Relative macrocephaly Genu varum Abnormal palate morphology Short chin Dental crowding Skin rash Thick lower lip vermilion Intellectual disability, profound Hydrocephalus Convex nasal ridge Glaucoma Prominent nose Microcornea Highly arched eyebrow Long face Joint hyperflexibility Facial asymmetry Carcinoma Hip dislocation Abnormality of the kidney Stage 5 chronic kidney disease Emphysema Intestinal bleeding Cholelithiasis Petechiae Abnormality of coagulation Opisthotonus Menorrhagia Athetosis Heart murmur Akinesia Clubbing Respiratory arrest Ectropion Abnormality of the thorax Portal hypertension Intracranial hemorrhage Dicarboxylic aciduria Hypokinesia Leukopenia Oculomotor apraxia Nonketotic hypoglycemia Osteolysis Hyperbilirubinemia Knee flexion contracture Hypocalcemia Elbow flexion contracture Bone pain Progressive microcephaly Hydrops fetalis Exercise-induced myoglobinuria Thickened skin Interstitial pulmonary abnormality Exertional dyspnea Cholestasis Multiple myeloma Decreased plasma carnitine Subcutaneous hemorrhage Abducens palsy Hemophagocytosis Eclabion Abnormal pattern of respiration Histiocytosis Generalized osteosclerosis Restrictive deficit on pulmonary function testing Avascular necrosis of the capital femoral epiphysis Abnormality of the spleen Hypoxemia Abnormality of the larynx Congenital nonbullous ichthyosiform erythroderma Bulbar palsy Supranuclear gaze palsy Nonimmune hydrops fetalis Slow saccadic eye movements Trismus Bulbar signs Hypomagnesemia Fetal akinesia sequence Increased serum ferritin Hepatocellular carcinoma Flank pain Limb hypertonia Protuberant abdomen Atrophy/Degeneration affecting the brainstem Congenital ichthyosiform erythroderma Hepatocellular necrosis Progressive neurologic deterioration Dyskinesia Global brain atrophy Severe lactic acidosis Corpus callosum atrophy Anosmia Nemaline bodies Hammertoe Distal lower limb amyotrophy Progressive encephalopathy Optic neuropathy Renal tubular acidosis Short 5th metacarpal Weak cry Calcific stippling Progressive spasticity Polyneuritis Acute pancreatitis Oral-pharyngeal dysphagia Incoordination Elevated levels of phytanic acid Leukoencephalopathy Shock Horizontal nystagmus Papule Leukodystrophy Wide anterior fontanel Coarctation of aorta Optic disc pallor Increased intracranial pressure Premature birth Progressive cerebellar ataxia Cerebral edema Stiff neck Exercise-induced rhabdomyolysis Polyhydramnios Epistaxis Pancytopenia Abnormality of the skin Syncope Abnormal bleeding Ascites Pulmonary hypoplasia Cirrhosis Lymphadenopathy Elevated hepatic transaminase Rigidity Pes cavus Umbilical hernia Skeletal dysplasia Decreased activity of mitochondrial respiratory chain Thrombocytopenia Splenomegaly Rhizomelia Exercise-induced lactic acidemia Acute necrotizing encephalopathy Abnormal mitochondria in muscle tissue Congenital lactic acidosis Necrotizing encephalopathy Progressive macrocephaly Cardiogenic shock Macrovesicular hepatic steatosis Infantile encephalopathy Biventricular hypertrophy Sensorimotor neuropathy Prominent ear helix



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