Cardiomyopathy, and Cerebral calcification

Diseases related with Cardiomyopathy and Cerebral calcification

In the following list you will find some of the most common rare diseases related to Cardiomyopathy and Cerebral calcification that can help you solving undiagnosed cases.


Top matches:

Low match HYPOPARATHYROIDISM-SENSORINEURAL DEAFNESS-RENAL DISEASE SYNDROME


Hypoparathyroidism-sensorineural deafness-renal disease syndrome is a rare, clinically heterogeneous genetic disorder characterized by the triad of hypoparathyroidism (H), sensorineural deafness (D) and renal disease (R).

HYPOPARATHYROIDISM-SENSORINEURAL DEAFNESS-RENAL DISEASE SYNDROME Is also known as barakat syndrome|hdrs|nephrosis, nerve deafness, and hypoparathyroidism|hdr syndrome|hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Growth delay
  • Nystagmus


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HYPOPARATHYROIDISM-SENSORINEURAL DEAFNESS-RENAL DISEASE SYNDROME

Low match CONGENITAL INTRAUTERINE INFECTION-LIKE SYNDROME


Congenital intrauterine infection-like syndrome is characterised by the presence of microcephaly and intracranial calcifications at birth accompanied by neurological delay, seizures and a clinical course similar to that seen in patients after intrauterine infection with Toxoplasma gondii, Rubella, Cytomegalovirus, Herpes simplex (so-called TORCH syndrome), or other agents, despite repeated tests revealing the absence of any known infectious agent.

CONGENITAL INTRAUTERINE INFECTION-LIKE SYNDROME Is also known as baraitser-reardon syndrome|bilateral band-like calcification with polymicrogyria|blc-pmg|blcpmg|band-like calcification with simplified gyration and polymicrogyria|microcephaly-intracranial calcification-intellectual disability syndrome|pseudo-torch syndr

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL INTRAUTERINE INFECTION-LIKE SYNDROME

Low match PSEUDOXANTHOMA ELASTICUM


Pseudoxanthoma elasticum (PXE) is an inherited connective tissue disorder characterized by progressive calcification and fragmentation of elastic fibers in the skin, retina, and arterial walls.

PSEUDOXANTHOMA ELASTICUM Is also known as pxe|gronblad-strandberg-touraine syndrome|gronblad-strandberg syndrome

Related symptoms:

  • Scoliosis
  • Growth delay
  • High palate
  • Visual impairment
  • Hypertension


SOURCES: ORPHANET OMIM MENDELIAN

More info about PSEUDOXANTHOMA ELASTICUM

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Other less relevant matches:

Low match MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM WITH METHYLMALONIC ACIDURIA


Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria is characterised by the association of a mitochondrial encephalomyopathy and an aminoacidopathy. It has been described in two brothers presenting with developmental delay, neurological signs, deafness, exercise intolerance, lactic acidosis and elevation of several plasmatic amino acids. Mitochondria morphology was found to be abnormal on muscle biopsy. Transmission is likely to be linked to maternal mitochondrial DNA.

MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM WITH METHYLMALONIC ACIDURIA Is also known as mtdna depletion syndrome, encephalomyopathic form with methylmalonic aciduria|mitochondrial encephalomyopathy-aminoacidopathy syndrome|booth-haworth-dilling syndrome|mitochondrial dna depletion syndrome, encephalomyopathic form, with or without methylmalo

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM WITH METHYLMALONIC ACIDURIA

Low match MUCOPOLYSACCHARIDOSIS-LIKE SYNDROME WITH CONGENITAL HEART DEFECTS AND HEMATOPOIETIC DISORDERS


MPSPS is an autosomal recessive inborn error of metabolism resulting in a multisystem disorder with features of the mucopolysaccharidosis lysosomal storage diseases (see, e.g., {607016}). Patients present in infancy or early childhood with respiratory difficulties, cardiac problems, anemia, dysostosis multiplex, renal involvement, coarse facies, and delayed psychomotor development. Most patients die of cardiorespiratory failure in the first years of life (summary by Kondo et al., 2017).

MUCOPOLYSACCHARIDOSIS-LIKE SYNDROME WITH CONGENITAL HEART DEFECTS AND HEMATOPOIETIC DISORDERS Is also known as mucopolysaccharidosis-like plus disease

Related symptoms:

  • Global developmental delay
  • Abnormal facial shape
  • Spasticity
  • Anemia
  • Flexion contracture


SOURCES: OMIM ORPHANET MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS-LIKE SYNDROME WITH CONGENITAL HEART DEFECTS AND HEMATOPOIETIC DISORDERS

Low match CARNITINE PALMITOYL TRANSFERASE II DEFICIENCY, NEONATAL FORM


The neonatal form of carnitine palmitoyltransferase II (CPT II) deficiency (see this term), an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the lethal form of the disease which presents with multisystem failure.

CARNITINE PALMITOYL TRANSFERASE II DEFICIENCY, NEONATAL FORM Is also known as carnitine palmitoyl transferase deficiency type 2, lethal systemic form|carnitine palmitoyltransferase ii deficiency, neonatal|cpt2 deficiency, lethal neonatal|carnitine palmitoyl transferase ii deficiency, lethal systemic form|carnitine palmitoyltransfer

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Muscular hypotonia
  • Cataract


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CARNITINE PALMITOYL TRANSFERASE II DEFICIENCY, NEONATAL FORM

Low match KEARNS-SAYRE SYNDROME


Kearns-Sayre syndrome (KSS) is a mitochondrial disease characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block.

KEARNS-SAYRE SYNDROME Is also known as ophthalmoplegia, pigmentary degeneration of retina, and cardiomyopathy|cpeo with myopathy|oculocraniosomatic syndrome|ophthalmoplegia, progressive external, with ragged-red fibers|cpeo with ragged-red fibers|chronic progressive external ophthalmoplegia wi

Related symptoms:

  • Seizures
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about KEARNS-SAYRE 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 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

Low match HURLER SYNDROME


Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy.

HURLER SYNDROME Is also known as mpsih|mps1h|mps1-h|mucopolysaccharidosis type 1h|mucopolysaccharidosis type ih|hurler disease

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about HURLER SYNDROME

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Cerebral calcification

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Acidosis Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Cardiomyopathy and Cerebral calcification. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Sensorineural hearing impairment

Uncommon Symptoms - Between 30% and 50% cases


Muscular hypotonia

Common Symptoms - More than 50% cases


Congestive heart failure

Uncommon Symptoms - Between 30% and 50% cases


Hepatomegaly

Common Symptoms - More than 50% cases


Renal insufficiency

Uncommon Symptoms - Between 30% and 50% cases


Intellectual disability Stroke Visual impairment Microcephaly Hyperreflexia Generalized hypotonia Skeletal muscle atrophy Nystagmus Feeding difficulties Ptosis Left ventricular hypertrophy Failure to thrive Abnormal facial shape Spasticity Anemia Flexion contracture Ventriculomegaly Peripheral neuropathy Hypertrophic cardiomyopathy Feeding difficulties in infancy Lactic acidosis Short stature Blindness Dysphagia Cardiomegaly Retinopathy Apnea Arrhythmia Respiratory insufficiency Hyporeflexia Respiratory distress Optic atrophy Elevated serum creatine phosphokinase Fatigue Ataxia Muscle weakness Basal ganglia calcification Macrovesicular hepatic steatosis Pigmentary retinopathy Encephalopathy Myoclonus Short neck Nyctalopia Ischemic stroke Ventricular hypertrophy Myopathy Polymicrogyria Ragged-red muscle fibers Abnormality of the liver External ophthalmoplegia Generalized hirsutism Elevated hepatic transaminase Depressivity Cognitive impairment Cerebral cortical atrophy Coma Abnormality of the cardiovascular system Hepatic steatosis Hemiplegia/hemiparesis Dilated cardiomyopathy Lethargy Hirsutism Hypothyroidism Scoliosis Visual loss Abnormal pyramidal sign Prominent forehead Edema Heart block Hypertension Hepatosplenomegaly Abnormality of movement Cerebellar hypoplasia Hypertelorism High palate Myalgia Renal tubular acidosis Cataract Micrognathia Areflexia Kyphosis Severe global developmental delay Dystonia Diabetes mellitus Rod-cone dystrophy Pain Vomiting Mental deterioration Proteinuria Hypoparathyroidism Splenomegaly Adrenal insufficiency Mitochondrial myopathy Ophthalmoplegia

Rare Symptoms - Less than 30% cases


Pectus carinatum Polyneuropathy Synophrys Abnormality of the foot Abnormality of peripheral nerve conduction Motor delay Wide nose Decreased activity of mitochondrial respiratory chain Progressive neurologic deterioration Behavioral abnormality Thick vermilion border Strabismus Macroglossia Brain atrophy Generalized-onset seizure Long eyelashes Thickened skin Focal segmental glomerulosclerosis Abnormal nerve conduction velocity Skeletal dysplasia Coarse facial features Atrial septal defect Irritability Facial diplegia Wide nasal bridge Gingival overgrowth Abnormality of the skeletal system Seborrheic dermatitis Progressive encephalopathy Decreased body weight Dysostosis multiplex Renal tubular dysfunction Abnormality of visual evoked potentials Aciduria Decreased nerve conduction velocity Patent ductus arteriosus Cachexia Cerebral atrophy Recurrent respiratory infections Hemiplegia Inability to walk Pallor Elbow flexion contracture Beaking of vertebral bodies Increased serum lactate Increased CSF lactate Incoordination Bilateral ptosis Abnormality of mitochondrial metabolism Cardiorespiratory arrest Bundle branch block Primary adrenal insufficiency Progressive external ophthalmoplegia Pancreatitis Severe lactic acidosis Exercise intolerance Cardiac arrest Gait imbalance Reduced tendon reflexes Migraine Generalized myoclonic seizures Abnormal cerebellum morphology Abnormality of eye movement Stroke-like episode Anterior hypopituitarism Muscle fiber atrophy Renal Fanconi syndrome Macrocephaly Cerebellar atrophy Hernia Pneumonia Kyphoscoliosis Atrioventricular block Leukoencephalopathy Flared iliac wings Hyperammonemia J-shaped sella turcica Hypertrichosis Hip dysplasia Carious teeth Agenesis of corpus callosum Respiratory failure Hypoglycemia Dyspnea Hepatic failure Metabolic acidosis Abdominal pain Constipation Developmental regression Ventricular arrhythmia EMG abnormality Headache Abnormality of the dentition Hyperkalemia Biventricular hypertrophy Delayed skeletal maturation Dementia Hypogonadism Limb muscle weakness Vertigo Muscle cramps Diarrhea Wolff-Parkinson-White syndrome Abnormality of retinal pigmentation Memory impairment Ophthalmoparesis Mitral regurgitation Hyperkinesis Renal dysplasia Fever Low-set ears Horizontal nystagmus Pulmonary edema Sudden cardiac death Multicystic kidney dysplasia Abnormal mitral valve morphology Nephrocalcinosis Postural instability Anteverted nares Polycystic kidney dysplasia Abnormality of skin pigmentation Intrauterine growth retardation Coronary artery atherosclerosis Angina pectoris Abnormal heart morphology Pruritus Multiple lipomas Reduced visual acuity Hydronephrosis Abnormality of the skin Chronic kidney disease Hypertonia Skin rash Status epilepticus Intellectual disability, profound Sloping forehead Macular degeneration Gliosis Bilateral sensorineural hearing impairment Cerebral visual impairment Opacification of the corneal stroma Myocardial infarction Congenital cataract Generalized tonic-clonic seizures Corneal opacity Purpura Increased CSF protein Jaundice Long philtrum Thrombocytopenia Nephrotic syndrome Muscular hypotonia of the trunk Progressive sensorineural hearing impairment Edema of the dorsum of hands Cochlear malformation Paronychia Progressive night blindness Abnormal mitochondrial morphology Abnormality of the cerebellar vermis Hemeralopia Abnormal cochlea morphology Cochlear degeneration Abnormal mitochondrial shape Crohn's disease Abnormal macular morphology Paralytic ileus Spotty hypopigmentation Medial calcification of small arteries Homonymous hemianopia Osteopenia Thick eyebrow Retinal degeneration Dry skin Genu valgum Dolichocephaly Camptodactyly of finger Craniosynostosis Wide mouth Joint stiffness Conductive hearing impairment Umbilical hernia Proptosis Abnormality of acid-base homeostasis Glaucoma Psychotic episodes Inguinal hernia Hydrocephalus Frontal bossing Depressed nasal bridge Delayed speech and language development Prominent ear helix Morphological abnormality of the inner ear Morphological abnormality of the vestibule of the inner ear Bilateral intracranial calcifications Episodic quadriplegia Pes cavus Persistence of primary teeth Tubulointerstitial abnormality Aphasia Intestinal obstruction Aplasia/Hypoplasia of the cerebellum Bifid scrotum Mask-like facies Abnormality of neuronal migration Overlapping toe Vestibular dysfunction Hyponatremia Dysphasia Visual field defect Prolonged QT interval Vertebral fusion Glomerulopathy Hyperthyroidism Personality changes Aortic aneurysm Thyroiditis Type I diabetes mellitus Anorexia Hematuria Hallucinations Clonus Truncal ataxia Hypogonadotrophic hypogonadism Hypopigmented skin patches Abnormality of the kidney Mutism Schizophrenia Goiter Easy fatigability Growth abnormality Hypercalciuria Rhabdomyolysis Abnormality of immune system physiology Cleft palate Psychomotor deterioration Ileus Hemianopia Abnormality of the renal tubule Episodic vomiting Motor polyneuropathy Dysesthesia Writer's cramp Retinal pigment epithelial atrophy Everted lower lip vermilion Leber optic atrophy Spontaneous hematomas Gastroparesis Amaurosis fugax Auditory hallucinations Proximal tubulopathy Speech apraxia Pulmonary embolism Xerostomia Distal arthrogryposis Drowsiness Atopic dermatitis Hashimoto thyroiditis Neonatal hypoglycemia Vitiligo Posterior subcapsular cataract Left ventricular failure Transient ischemic attack Delusions Aortic dissection Tubulointerstitial nephritis Visual hallucinations Cerebral ischemia Reduced consciousness/confusion High, narrow palate Progressive visual loss Neurodegeneration Hip subluxation Flared nostrils Large sella turcica Anterior rib cupping Prominent sternum Abnormality of the gingiva Atlantoaxial dislocation Heparan sulfate excretion in urine Meckel diverticulum Abnormal hand morphology Enlargement of the wrists Abnormality of the middle ear ossicles Cervical myelopathy Calvarial hyperostosis Thoracolumbar kyphoscoliosis Narrow pelvis bone Anterior open bite Urinary glycosaminoglycan excretion Abnormal diaphysis morphology Sagittal craniosynostosis Myelopathy Rhinorrhea Broad femoral neck Delayed ossification of carpal bones Diaphyseal thickening Recurrent ear infections Difficulty standing Retinal fold Chronic rhinitis Biconcave vertebral bodies Mucopolysacchariduria Large face Sclerosis of skull base Hernia of the abdominal wall Short mandibular rami Abnormal aortic valve morphology Abnormality of the wing of the ilium Thick skull base Deformed humerus Enlarged vertebral pedicles Proximal tapering of metacarpals Bullet-shaped phalanges of the hand Broad long bone diaphyses Increased size of nasopharyngeal adenoids Abnormality of joint mobility Abnormality of glycosaminoglycan metabolism Abnormality of the tympanic membrane Stiff interphalangeal joints Abnormal mandible coronoid process morphology Abnormality of premolar morphology Abnormal mandibular ramus morphology Delayed tarsal ossification Broad ischia Cervical kyphosis Calcification of falx cerebri Abnormal CNS myelination Lumbar kyphosis Dermatan sulfate excretion in urine Abnormality of mucopolysaccharide metabolism Abnormality of the pubic bone Hypoplasia of the femoral head Abnormality of the tonsils Flaring of rib cage C1-C2 subluxation Enlarged tonsils Hypoplastic cervical vertebrae Cervical subluxation Mandibular condyle hypoplasia Abnormality of lysosomal metabolism Hypoplasia of teeth Constrictive median neuropathy Sleep disturbance Widely spaced teeth Coxa valga Spastic paraparesis Abnormality of dental enamel Coxa vara Aortic regurgitation Cerebral palsy Progressive hearing impairment Exotropia Corneal dystrophy Sleep apnea Increased intracranial pressure Recurrent upper respiratory tract infections Prominent supraorbital ridges Back pain Abnormal vertebral morphology Abnormality of epiphysis morphology Stridor Microdontia Delayed eruption of teeth Broad nasal tip Full cheeks Asthma Limitation of joint mobility Involuntary movements Abnormality of the ribs Chronic diarrhea Lumbar hyperlordosis Interphalangeal joint contracture of finger Recurrent otitis media Split hand Abnormal form of the vertebral bodies Encephalocele Language impairment Heart murmur Endocardial fibroelastosis Tracheal stenosis Obstructive sleep apnea Abnormality of the skull Abnormality of the clavicle Gingivitis Diastasis recti Abnormality of the respiratory system Large earlobe Abnormality of the elbow Communicating hydrocephalus Upper airway obstruction Hypoplastic ilia Conical tooth Cor pulmonale Foam cells Recurrent lower respiratory tract infections Shallow orbits Toe walking Arthropathy Metatarsus adductus Multiple joint contractures Flared metaphysis Restrictive ventilatory defect Abnormal heart valve morphology Thickened calvaria Spinal canal stenosis Peripheral visual field loss Rhinitis Thoracic scoliosis Protruding tongue Short clavicles Hypoplasia of the odontoid process Palpebral edema Protuberant abdomen Vesicoureteral reflux Neurological speech impairment Ectodermal dysplasia Large forehead Bulbous nose Joint hyperflexibility Bruising susceptibility Neonatal hypotonia High forehead Posteriorly rotated ears Gastrointestinal hemorrhage Mitral valve prolapse Blue sclerae Hypoplastic acetabulae Obstructive lung disease Acetabular dysplasia Subcutaneous nodule Atherosclerosis Papule Tubular atrophy Barrel-shaped chest Cutis laxa Glomerulosclerosis Coarse hair Bone marrow hypocellularity Joint contracture of the hand Hyperextensible skin Redundant skin Abnormal lung morphology Delayed myelination Intracranial hemorrhage Abnormality of the thorax Acne Tapered finger Small for gestational age Cutis marmorata Long toe Antenatal intracerebral hemorrhage Intracerebral periventricular calcifications Tapered toe Decreased plasma free carnitine Hepatic calcification Basal ganglia cysts Elevated long chain fatty acids Increased muscle lipid content Nonketotic hypoglycemia Increased total bilirubin Dicarboxylic aciduria Congenital microcephaly Abnormality of nervous system morphology Ureteral duplication Wide intermamillary distance Cystic renal dysplasia Hypoketotic hypoglycemia Hypothermia Myopia Enlarged kidney Cerebral hemorrhage Hypoplastic toenails Overfolded helix Dilatation Abnormality of cardiovascular system morphology Narrow palate Knee flexion contracture Scarring Oligohydramnios Tricuspid regurgitation Hypermelanotic macule Elevated serum long-chain fatty acids Abnormality of connective tissue Aminoaciduria Excessive wrinkled skin Pulmonary insufficiency Ectopic calcification Peripheral demyelination Choroidal neovascularization Abnormal endocardium morphology Retinal hemorrhage Intermittent claudication Angioid streaks of the fundus Metamorphopsia Postnatal growth retardation Renovascular hypertension Civatte bodies Respiratory insufficiency due to muscle weakness Accelerated atherosclerosis Vascular calcification Subcutaneous calcification Arterial calcification Hyperkeratotic papule Localized skin lesion Generalized arterial calcification Medial calcification of large arteries Peripapillary chorioretinal atrophy Peau d'orange Subretinal fluid Erythematous papule Premature occlusive vascular stenosis Medial calcification of medium-sized arteries Intellectual disability, progressive Arteriosclerosis Abnormal retinal morphology Abnormality of the cerebral vasculature Hip dislocation Chorioretinal atrophy Respiratory tract infection Telecanthus Telangiectasia of the skin Striae distensae Severe vision loss Severe intrauterine growth retardation Abnormality of the mouth Pectus excavatum Thickened nuchal skin fold Drusen Mitral stenosis Peripheral arterial stenosis Delayed gross motor development Epicanthus Loss of ability to walk in early childhood Methylmalonic acidemia Lack of skin elasticity Abnormality of the basal ganglia Methylmalonic aciduria Generalized dystonia Restrictive cardiomyopathy Redundant neck skin Abnormal thrombocyte morphology Severe hearing impairment Athetosis Abnormal electroretinogram Arterial stenosis Decreased plasma total carnitine Long-chain dicarboxylic aciduria Hemiparesis Acute pancreatitis Gait disturbance Tremor Dysarthria Exercise-induced lactic acidemia Acute necrotizing encephalopathy Abnormal mitochondria in muscle tissue Congenital lactic acidosis Necrotizing encephalopathy Progressive macrocephaly Cardiogenic shock Infantile encephalopathy Axial dystonia Stiff neck Cerebral edema Osteoporosis Corpus callosum atrophy Abnormality of the urinary system Nemaline bodies Aspiration pneumonia Polycystic ovaries Optic neuropathy Weak cry Poor eye contact Progressive spasticity Pericardial effusion Global brain atrophy Oral-pharyngeal dysphagia Shock Psoriasiform dermatitis Hypocalcemia Gait ataxia Aspiration Dysmetria Atrial fibrillation Psychosis Pulmonary arterial hypertension Type II diabetes mellitus Amenorrhea Specific learning disability Sensory impairment Nephropathy Nausea Peripheral axonal neuropathy Ichthyosis Confusion Paresthesia Anal atresia Weight loss Delayed puberty Malabsorption Nausea and vomiting Arthrogryposis multiplex congenita Abnormal atrioventricular valve morphology Attention deficit hyperactivity disorder Erythema Protruding ear Abnormality of the pinna Anxiety EEG abnormality Photophobia Gastroesophageal reflux Autism Unilateral renal agenesis Leukodystrophy Petechiae Nasal speech First degree atrioventricular block Sideroblastic anemia Abnormality of T cell physiology Titubation Abnormality of the mitochondrion Parathyroid hypoplasia Unilateral renal dysplasia Hypomagnesemia Hyperaldosteronism Intellectual disability, severe Exocrine pancreatic insufficiency Microphthalmia Micropenis Tetraplegia Folate deficiency Neuronal loss in central nervous system Growth hormone deficiency Syncope Tetraparesis Sensory neuropathy Pachygyria Postnatal microcephaly Muscular dystrophy Decreased liver function Paralysis Microretrognathia Severe short stature Spastic tetraparesis Lissencephaly Unilateral deafness Adrenocorticotropin deficient adrenal insufficiency Wide anterior fontanel Aplasia of the uterus Coarctation of aorta Congenital diaphragmatic hernia Optic disc pallor Cyanosis Febrile seizures Severe postnatal growth retardation Premature birth Tetany Progressive cerebellar ataxia Vaginal atresia Dyskinesia Stage 5 chronic kidney disease Talipes Ovarian cyst Hypocalcemic seizures Third degree atrioventricular block Uterus didelphys Abnormality of the eye Proximal muscle weakness Distal renal tubular acidosis Proximal renal tubular acidosis Babinski sign Pseudopapilledema Septate vagina Thickening of the glomerular basement membrane Talipes equinovarus Bilateral renal dysplasia Low CSF 5-methyltetrahydrofolate Progressive intervertebral space narrowing Second degree atrioventricular block Delayed ossification of the hand bones



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Hypodontia, related diseases and genetic alterations Macrocephaly and Hypoglycemia, related diseases and genetic alterations Low-set ears and Hip dysplasia, related diseases and genetic alterations Immunodeficiency and Cone/cone-rod dystrophy, related diseases and genetic alterations

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