Cardiomyopathy, and Apraxia

Diseases related with Cardiomyopathy and Apraxia

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


Top matches:

Low match LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE; LKENP


Progressive leukoencephalopathy with ovarian failure is an autosomal recessive neurodegenerative disorder characterized by loss of motor and cognitive skills, usually with onset in young adulthood. Some patients may have a history of delayed motor development or learning difficulties in early childhood. Neurologic decline is severe, usually resulting in gait difficulties, ataxia, spasticity, and cognitive decline and dementia. Most patients lose speech and become wheelchair-bound or bedridden. Brain MRI shows progressive white matter signal abnormalities in the deep white matter. Affected females develop premature ovarian failure (summary by Dallabona et al., 2014).

Related symptoms:

  • Ataxia
  • Nystagmus
  • Spasticity
  • Motor delay
  • Dysarthria


SOURCES: OMIM MENDELIAN

More info about LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE; LKENP

Low match COENZYME Q10 DEFICIENCY, PRIMARY, 1; COQ10D1


Primary CoQ10 deficiency is a rare, clinically heterogeneous autosomal recessive disorder caused by mutation in any of the genes encoding proteins directly involved in the synthesis of coenzyme Q (review by Quinzii and Hirano, 2011). Coenzyme Q10 (CoQ10), or ubiquinone, is a mobile lipophilic electron carrier critical for electron transfer by the mitochondrial inner membrane respiratory chain (Duncan et al., 2009).The disorder has been associated with 5 major phenotypes, but the molecular basis has not been determined in most patients with the disorder and there are no clear genotype/phenotype correlations. The phenotypes include an encephalomyopathic form with seizures and ataxia (Ogasahara et al., 1989); a multisystem infantile form with encephalopathy, cardiomyopathy and renal failure (Rotig et al., 2000); a predominantly cerebellar form with ataxia and cerebellar atrophy (Lamperti et al., 2003); Leigh syndrome with growth retardation (van Maldergem et al., 2002); and an isolated myopathic form (Lalani et al., 2005). The correct diagnosis is important because some patients may show a favorable response to CoQ10 treatment. Genetic Heterogeneity of Primary Coenzyme Q10 DeficiencySee also COQ10D2 (OMIM ), caused by mutation in the PDSS1 gene (OMIM ) on chromosome 10p12; COQ10D3 (OMIM ), caused by mutation in the PDSS2 gene (OMIM ) on chromosome 6q21; COQ10D4 (OMIM ), caused by mutation in the COQ8 gene (ADCK3 ) on chromosome 1q42; COQ10D5 (OMIM ), caused by mutation in the COQ9 gene (OMIM ) on chromosome 16q21; COQ10D6 (OMIM ), caused by mutation in the COQ6 gene (OMIM ) on chromosome 14q24; COQ10D7 (OMIM ), caused by mutation in the COQ4 gene (OMIM ) on chromosome 9q34; and COQ10D8 (OMIM ), caused by mutation in the COQ7 gene (OMIM ) on chromosome 16p13.Secondary CoQ10 deficiency has been reported in association with glutaric aciduria type IIC (MADD ), caused by mutation in the ETFDH gene (OMIM ) on chromosome 4q, and with ataxia-oculomotor apraxia syndrome-1 (AOA1 ), caused by mutation in the APTX gene (OMIM ) on chromosome 9p13.

COENZYME Q10 DEFICIENCY, PRIMARY, 1; COQ10D1 Is also known as ubiquinone deficiency 1|coq10 deficiency, primary, 1|coq deficiency 1|coenzyme q deficiency 1

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about COENZYME Q10 DEFICIENCY, PRIMARY, 1; COQ10D1

Low match SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION; SSMED


In patients with SSMED, short stature and microcephaly are apparent at birth, and there is progressive postnatal growth failure. Endocrine dysfunction, including hypergonadotropic hypogonadism, multinodular goiter, and diabetes mellitus, is present in affected adults. Progressive ataxia has been reported in some patients, with onset ranging from the second to fifth decade of life. In addition, a few patients have developed tumors, suggesting that there may be a predisposition to tumorigenesis. In contrast to syndromes involving defects in other components of the nonhomologous end-joining (NHEJ) complex (see, e.g., {606593}), no clinically overt immunodeficiency has been observed in SSMED, although laboratory analysis has revealed lymphopenia or borderline leukopenia in some patients (Murray et al., 2015; Bee et al., 2015; de Bruin et al., 2015; Guo et al., 2015).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION; SSMED

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Other less relevant matches:

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 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

Low match COSTELLO SYNDROME


Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors.

COSTELLO SYNDROME Is also known as fcs syndrome|faciocutaneoskeletal syndrome

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about COSTELLO SYNDROME

Low match MACROCEPHALY-INTELLECTUAL DISABILITY-LEFT VENTRICULAR NON COMPACTION SYNDROME


Macrocephaly-intellectual disability-left ventricular non compaction syndrome is a rare, genetic, syndromic intellectual disability characterized by motor and cognitive developmental delay with language impairment, macrocephaly, hypotonia, dysmorphic facial features (including long face, slanting palpebral fissures and prominent, flattened nose) and left ventricular noncompaction cardiomyopathy. Patients also present skeletal abnormalities (e.g. scoliosis, finger clinodactyly, pes planus), slender build and shy behavior. Strabismus and various neurological signs (including ataxia, tremor and hyperreflexia) may be associated, as well as epilepsy, autism and MRI findings showing a small cerebellum and abnormalities of the corpus callosum. A phenotypic variant with no cardiac involvement has been reported.

MACROCEPHALY-INTELLECTUAL DISABILITY-LEFT VENTRICULAR NON COMPACTION SYNDROME Is also known as mrxsml|mental retardation, x-linked, syndromic, mircsof-langouet type

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MACROCEPHALY-INTELLECTUAL DISABILITY-LEFT VENTRICULAR NON COMPACTION SYNDROME

Low match SHWACHMAN-DIAMOND SYNDROME


Shwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia, pancreatic exocrine insufficiency associated with steatorrhea and growth failure, skeletal dysplasia with short stature, and an increased risk of bone marrow aplasia or leukemic transformation.

SHWACHMAN-DIAMOND SYNDROME Is also known as pancreatic insufficiency and bone marrow dysfunction|shwachman syndrome|shwachman-bodian syndrome|shwachman-diamond syndrome|shwachman-bodian-diamond syndrome|sds|lipomatosis of pancreas, congenital

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about SHWACHMAN-DIAMOND SYNDROME

Low match SEVERE EARLY-ONSET PULMONARY ALVEOLAR PROTEINOSIS DUE TO MARS DEFICIENCY


Infantile liver failure syndrome-2 is an autosomal recessive disorder characterized by recurrent episodes of acute liver failure during intercurrent febrile illness. Patients first present in infancy or early childhood, and there is complete recovery between episodes with conservative treatment (summary by Haack et al., 2015).For a discussion of genetic heterogeneity of infantile liver failure syndrome, see ILFS1 (OMIM ).

SEVERE EARLY-ONSET PULMONARY ALVEOLAR PROTEINOSIS DUE TO MARS DEFICIENCY Is also known as interstitial lung and liver disease|pap, reunion island type|pulmonary alveolar proteinosis, reunion island type|hereditary pulmonary alveolar proteinosis with hepatic involvement

Related symptoms:

  • Seizures
  • Cardiomyopathy
  • Vomiting
  • Encephalopathy
  • Jaundice


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE EARLY-ONSET PULMONARY ALVEOLAR PROTEINOSIS DUE TO MARS DEFICIENCY

Low match COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 23


Combined oxidative phosphorylation deficiency-23 is an autosomal recessive disorder characterized by early childhood onset of hypertrophic cardiomyopathy and/or neurologic symptoms, including hypotonia and delayed psychomotor development. Laboratory investigations are consistent with a defect in mitochondrial function resulting in lactic acidosis, impaired activities of respiratory complexes I and IV, and defective translation of mitochondrial proteins. Brain imaging shows abnormal lesions in the basal ganglia, thalamus, and brainstem. The severity of the disorder is variable, ranging from death in early infancy to survival into the second decade (summary by Kopajtich et al., 2014).For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (OMIM ).

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 23 Is also known as coxpd23

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 23

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Apraxia

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Nystagmus

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia

Common Symptoms - More than 50% cases


Dysarthria

Uncommon Symptoms - Between 30% and 50% cases


Cognitive impairment Short stature Motor delay Scoliosis Hypertrophic cardiomyopathy Gait disturbance Failure to thrive Cryptorchidism Ventriculomegaly Delayed skeletal maturation Abnormal facial shape Cataract Encephalopathy Anemia Cerebral atrophy Strabismus Hepatomegaly Feeding difficulties in infancy Gastroesophageal reflux Neoplasm Feeding difficulties Hypogonadism Hearing impairment Tremor High palate Ichthyosis Delayed puberty Specific learning disability Vomiting Thick vermilion border Congestive heart failure Abnormality of the dentition Relative macrocephaly Kyphosis Hyperextensible skin Failure to thrive in infancy Poor suck Inguinal hernia High, narrow palate Sparse hair Arrhythmia Myopia Macrocephaly Hernia Thrombocytopenia Frontal bossing Autism Ventricular septal defect Cerebral cortical atrophy Depressivity Cerebellar atrophy Delayed speech and language development Postural instability Short neck Dysphagia Ptosis Respiratory distress Intellectual disability, mild Renal insufficiency Ragged-red muscle fibers Hypertelorism Long face Muscular hypotonia Decreased body weight Long philtrum Optic atrophy Acidosis Pectus carinatum Lactic acidosis Osteopenia Sensorineural hearing impairment Hypermetropia

Rare Symptoms - Less than 30% cases


Goiter Bilateral cryptorchidism Malar flattening Hyperhidrosis Abnormal heart morphology Posteriorly rotated ears Hydrocephalus Aggressive behavior Curly hair Abnormality of cardiovascular system morphology Low-set, posteriorly rotated ears Generalized hyperpigmentation Hyperkeratosis Atrial septal defect Short nose Coarse facial features Respiratory insufficiency Proptosis Edema Hypertonia Myopathy Polyhydramnios Blindness Pectus excavatum Visual impairment Hypertension Constipation Low-set ears Cerebellar hypoplasia Bilateral ptosis Abnormality of the testis Atrial fibrillation Hemiparesis Deep palmar crease Abnormal mitral valve morphology Cerebral visual impairment Clonus Hyperextensibility of the finger joints Type I diabetes mellitus Speech apraxia Aortic aneurysm Hip dysplasia Abnormality of the skeletal system Kyphoscoliosis Hypoglycemia Eczema Multiple lipomas Neonatal hypoglycemia Joint laxity Sepsis Rhabdomyolysis Atopic dermatitis Abnormality of the cardiovascular system Increased serum lactate Osteoporosis Neurological speech impairment Anteverted nares Jaundice Downslanted palpebral fissures EEG abnormality Apnea Epicanthus Depressed nasal bridge Erythema Acanthosis nigricans Micrognathia Pruritus Thick upper lip vermilion Lethargy Arthrogryposis multiplex congenita Carious teeth Arnold-Chiari type I malformation Malabsorption Cutis laxa Peripheral axonal neuropathy Abnormality of the gastrointestinal tract Abnormal cerebellum morphology Woolly hair Leukopenia Wide mouth Short chin Redundant skin Pancytopenia Hyperpigmentation of the skin Status epilepticus Hypergonadotropic hypogonadism Exercise intolerance Oculomotor apraxia Ophthalmoparesis Focal segmental glomerulosclerosis Glomerulopathy Lymphedema Growth hormone deficiency Webbed neck Nevus Full cheeks Pleural effusion Microcephaly Peripheral neuropathy Intrauterine growth retardation Hypoplasia of the corpus callosum Nephrotic syndrome Bilateral sensorineural hearing impairment Recurrent infections Proteinuria Muscle weakness Hyperreflexia Skeletal muscle atrophy Fatigue Visual loss Elevated serum creatine phosphokinase Rod-cone dystrophy Myoclonus Respiratory failure Muscular hypotonia of the trunk Memory impairment Abnormal pyramidal sign Stroke Joint hyperflexibility Cafe-au-lait spot Hepatic failure Nephropathy Muscle cramps Bone marrow hypocellularity Progressive cerebellar ataxia Immunodeficiency Premature birth Open mouth Gait ataxia Respiratory tract infection Hemangioma Dysmetria Falls Large for gestational age Polyneuropathy Astigmatism Elevated hepatic transaminase Amenorrhea Small for gestational age Pulmonic stenosis Neurodevelopmental delay Abnormal cardiac septum morphology Mental deterioration Epidermal acanthosis Narrow palate Pigmentary retinopathy Abnormality of the cerebral white matter Dementia Dilated cardiomyopathy Joint hypermobility Irritability Sleep disturbance Pes cavus Severe short stature Diabetes mellitus Hypothyroidism Spasticity High forehead Leukemia Dystonia Attention deficit hyperactivity disorder Short philtrum Postnatal growth retardation Heart murmur Multiple lentigines Abnormality of the optic disc Abnormality of the genitourinary system Frontal balding Increased nuchal translucency Intellectual disability, moderate Abnormal tricuspid valve morphology Cavernous hemangioma Endocarditis Anterior creases of earlobe Patchy alopecia Sparse or absent eyelashes Multiple palmar creases Optic nerve dysplasia Puberty and gonadal disorders Eyelid fasciculation Multiple plantar creases Oral aversion Inappropriate crying Cutaneous T-cell lymphoma Abnormality of hair texture Morphological abnormality of the gastrointestinal tract Sleep apnea Talipes equinovarus Abnormal location of ears Abnormality of the nervous system Absent speech Abnormality of the hairline Hyperkeratosis pilaris Abnormality of the auditory canal Functional abnormality of the gastrointestinal tract Laryngeal cleft Carcinoma Generalized ichthyosis Hypoplasia of the frontal lobes Tongue thrusting Hypoplasia of the zygomatic bone Excessive wrinkled skin Submucous cleft hard palate Scaling skin Ectropion Melanocytic nevus Cubitus valgus Underdeveloped supraorbital ridges Chronic otitis media Obsessive-compulsive behavior Anal stenosis Absent eyebrow Open bite Brittle hair Malnutrition Hydroureter Biparietal narrowing Aplasia/Hypoplasia of the eyebrow Multiple cafe-au-lait spots Abnormal heart valve morphology Long palpebral fissure Tachycardia Neurofibromas Infantile spasms Sparse eyebrow Deep philtrum Abnormality of the pulmonary artery Dystrophic fingernails Delayed gross motor development Abnormal aortic valve morphology Subvalvular aortic stenosis Thickened helices Slow-growing hair Gastrointestinal dysmotility Abnormality of refraction Abnormal myocardium morphology Delayed CNS myelination Abnormality of the optic nerve Abnormal hair pattern Abnormality of vision Short attention span Abnormality of the ulna Premature skin wrinkling Optic nerve hypoplasia Absent eyelashes Enlarged kidney Palmoplantar hyperkeratosis Abnormal eyelash morphology Alopecia of scalp Poor appetite Abnormality of the sternum Hematemesis Wide nose Nasal speech Pes planus Neonatal hypotonia Poor speech Prominent nose Intention tremor Dental crowding Widely spaced teeth Patent foramen ovale Upslanted palpebral fissure Hallux valgus Thickened calvaria Ankylosis Mild global developmental delay Right ventricular hypertrophy Slender build Left ventricular noncompaction Narrow mouth Patent ductus arteriosus Increased head circumference Macrocephaly at birth Embryonal rhabdomyosarcoma Multifocal atrial tachycardia Neonatal sepsis Choroid plexus papilloma Bladder carcinoma Cardiomyocyte hypertrophy Loose anagen hair Enlarged cerebellum Increased corneal curvature Myofiber disarray Vitreomacular adhesion Tendon rupture Alveolar rhabdomyosarcoma Lymphangiectasis Congenital neuroblastoma Thickened Achilles tendon Systolic heart murmur Perseveration Deviated nasal septum Vestibular Schwannoma Enlargement of the costochondral junction Acute monocytic leukemia Recurrent aphthous stomatitis Metaphyseal chondrodysplasia Anterior rib cupping Metaphyseal sclerosis Persistence of hemoglobin F Paroxysmal nocturnal hemoglobinuria Proximal femoral metaphyseal irregularity Aplastic anemia Myocardial necrosis Metaphyseal dysostosis Proximal femoral epiphysiolysis Narrow sacroiliac notch Irregular ossification at anterior rib ends Hyperammonemia Abnormality of the coagulation cascade Acute hepatic failure Recurrent viral infections Ovoid vertebral bodies Skeletal dysplasia Nephrocalcinosis Narrow chest Neutropenia Generalized muscle weakness Microdontia Abnormality of the metaphysis Decreased liver function Short ribs Recurrent bacterial infections Exocrine pancreatic insufficiency Coxa vara Myelodysplasia Metaphyseal widening Neonatal respiratory distress Short thorax Steatorrhea Myeloid leukemia Acute myeloid leukemia Deep-set nails Frontal hirsutism Hematuria Ulnar deviation of finger Hyperglycemia Hypoplastic toenails Tricuspid regurgitation Rocker bottom foot Reduced subcutaneous adipose tissue Keratoconus Neuroblastoma Tracheomalacia Laryngomalacia Central hypotonia Syringomyelia Soft skin Obstructive sleep apnea Severe postnatal growth retardation Microscopic hematuria Thickened nuchal skin fold Pyloric stenosis Arnold-Chiari malformation Megalencephaly Hypoplasia of dental enamel Ascites Tetraplegia Macroglossia Abnormality of the skin Overgrowth Mitral valve prolapse Thick lower lip vermilion Long eyelashes Infantile muscular hypotonia Wide anterior fontanel Hydrops fetalis Abnormality of the hair Hoarse voice Pointed chin Abnormality of dental enamel Abnormality of the fingernails Abnormal dermatoglyphics Fragile nails Barrel-shaped chest Ganglioneuroblastoma Bladder neoplasm Papilloma Large face Thin nail Deep plantar creases Melena Triangular mouth Capillary malformation Abnormal pulmonary valve morphology Fetal distress Duodenal ulcer Ulnar deviation of the wrist Body odor Postprandial hyperglycemia Shyness Hypopnea Concentric hypertrophic cardiomyopathy Transitional cell carcinoma of the bladder Bronchomalacia Limited elbow movement Progeroid facial appearance Labial hypoplasia Large earlobe Achilles tendon contracture Large forehead Verrucae Central apnea Lack of skin elasticity Redundant neck skin Asymmetric septal hypertrophy Abnormality of earlobe Broad philtrum Fasting hypoglycemia Hypoplasia of teeth Concave nail Pneumothorax Rhabdomyosarcoma Broad femoral neck Schwannoma Aplasia/Hypoplasia of the corpus callosum Hemeralopia Abnormal palate morphology Protruding ear Coma Hirsutism Polymicrogyria Nausea Vertigo Confusion Paresthesia Anal atresia Nausea and vomiting Congenital cataract Ophthalmoplegia Generalized tonic-clonic seizures Nyctalopia Abnormality of the liver Abnormality of the pinna Sudden cardiac death Areflexia Gastrointestinal stroma tumor Long neck Pain Fever Diarrhea Headache Hyporeflexia Developmental regression Abdominal pain Weight loss Dyspnea Photophobia Myalgia Anxiety Generalized myoclonic seizures Sensory impairment Glioma Generalized hirsutism Chronic kidney disease Growth abnormality Easy fatigability Hyperkinesis Schizophrenia Mutism Hypopigmented skin patches Ischemic stroke Reduced tendon reflexes External ophthalmoplegia Pancreatitis Macular degeneration Purpura Hypogonadotrophic hypogonadism EMG abnormality Migraine Hypertrichosis Cerebral calcification Generalized-onset seizure Type II diabetes mellitus Pulmonary arterial hypertension Psychosis Ventricular hypertrophy Involuntary movements Truncal ataxia Left ventricular hypertrophy Anorexia Gingival overgrowth Abnormality of retinal pigmentation Hallucinations Cardiac arrest Multinodular goiter Chronic lung disease Cachexia Myoglobinuria Mandibular prognathia Micropenis Babinski sign Clinodactyly Obesity Midface retrusion Crescentic glomerulonephritis Rapid neurologic deterioration Exercise-induced myoglobinuria Recurrent myoglobinuria Glutaric aciduria Steroid-resistant nephrotic syndrome Scanning speech Tubular atrophy Generalized amyotrophy Rigidity Progressive gait ataxia Neurodegeneration Leukoencephalopathy Premature ovarian insufficiency Secondary amenorrhea Congenital nystagmus Loss of speech Periventricular leukomalacia Glomerulonephritis Progressive leukoencephalopathy Metabolic acidosis Aciduria Progressive neurologic deterioration Progressive muscle weakness Glomerulosclerosis Deeply set eye Retinopathy Shuffling gait Cortical gyral simplification Dysdiadochokinesis Postural tremor Unilateral renal agenesis Sensory axonal neuropathy High pitched voice Ectopic kidney Truncal obesity Lymphopenia Long nose Cerebellar vermis atrophy Abnormality of lipid metabolism Increased circulating gonadotropin level Low hanging columella Misalignment of teeth Slurred speech Insulin resistance Prominent nasal bridge Decreased testicular size Synophrys Sensory neuropathy Triangular face Broad nasal tip Renal agenesis Convex nasal ridge Limb undergrowth Abnormal lung morphology Bradykinesia Sloping forehead Hypotelorism Renal hypoplasia Cutaneous photosensitivity Broad-based gait Atrioventricular block Decreased nerve conduction velocity Sparse eyelashes Abnormal mitochondrial shape Alopecia Clinodactyly of the 5th finger Splenomegaly Behavioral abnormality Intellectual disability, severe Prominent ear helix 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 Cochlear degeneration Macrotia Abnormality of the cerebellar vermis Amaurosis fugax Auditory hallucinations Abnormal nerve conduction velocity Renal Fanconi syndrome Tubulointerstitial abnormality Psychotic episodes Crohn's disease Progressive night blindness Abnormal macular morphology Spotty hypopigmentation Paronychia Abnormal mitochondrial morphology Edema of the dorsum of hands Cochlear malformation Prominent forehead Umbilical hernia Spontaneous hematomas Abnormal bleeding Abnormality of the nail Aspiration Thickened skin Inflammatory abnormality of the skin Myocardial infarction Fine hair Low posterior hairline Coarctation of aorta Cardiomegaly Narrow forehead Progressive visual loss Dental malocclusion Intestinal malrotation Vesicoureteral reflux Abdominal distention Hydronephrosis Hypotrichosis Telecanthus Abnormality of the eye Abnormality of the kidney Scarring Nail dystrophy Dolichocephaly Genu valgum Palmoplantar keratoderma Dry skin Abnormality of skin pigmentation Bulbous nose Bruising susceptibility Retinal dystrophy Hepatic steatosis Gastroparesis Leber optic atrophy Hypercalciuria Hyperkalemia Abnormality of visual evoked potentials Hashimoto thyroiditis Drowsiness Distal arthrogryposis Pulmonary embolism Primary adrenal insufficiency Abnormality of immune system physiology Thyroiditis Hyperthyroidism Basal ganglia calcification Progressive sensorineural hearing impairment Vertebral fusion Prolonged QT interval Visual field defect Dysphasia Xerostomia Bifid scrotum Hemiplegia Abnormality of mitochondrial metabolism Hyponatremia Personality changes Intestinal obstruction Aplasia/Hypoplasia of the cerebellum Mask-like facies Vestibular dysfunction Hemiplegia/hemiparesis Abnormality of neuronal migration Overlapping toe Adrenal insufficiency Bundle branch block Aphasia Vitiligo Heart block Persistence of primary teeth Hemianopia Seborrheic dermatitis Left ventricular failure Retinal pigment epithelial atrophy Abnormality of peripheral nerve conduction Proximal tubulopathy Ileus Abnormality of the renal tubule Anterior hypopituitarism Episodic vomiting Motor polyneuropathy Dysesthesia Psychomotor deterioration Muscle fiber atrophy Writer's cramp Stroke-like episode Gait imbalance Hypoparathyroidism Facial diplegia Mitochondrial myopathy Progressive external ophthalmoplegia Posterior subcapsular cataract Transient ischemic attack Delusions Cardiorespiratory arrest Aortic dissection Reduced consciousness/confusion Renal tubular dysfunction Tubulointerstitial nephritis Visual hallucinations Increased CSF lactate Wolff-Parkinson-White syndrome Cerebral ischemia Hepatic encephalopathy



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