Congestive heart failure, and Schizophrenia

Diseases related with Congestive heart failure and Schizophrenia

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


Top matches:

High match COFFIN-LOWRY SYNDROME


Coffin-Lowry syndrome (CLS) is a rare genetic neurological disorder characterized by psychomotor and growth retardation, facial dysmorphism, digit abnormalities, and progressive skeletal changes.

COFFIN-LOWRY SYNDROME Is also known as cls

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about COFFIN-LOWRY SYNDROME

High match MELAS


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

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

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MELAS

Medium match 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

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Other less relevant matches:

Medium match WILLIAMS SYNDROME


Williams syndrome is a rare genetic multisystemic neurodevelopmental disorder characterized by a distinct facial appearance, cardiac anomalies (most frequently supravalvular aortic stenosis), cognitive and developmental abnormalities, and connective tissue abnormalities (such as joint laxity)

WILLIAMS SYNDROME Is also known as deletion 7q11.23|williams syndrome|williams-beuren syndrome|chromosome 7q11.23 deletion syndrome, 1.5- to 1.8-mb|wms|monosomy 7q11.23|ws

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about WILLIAMS SYNDROME

Low match DRUG METABOLISM, POOR, CYP2D6-RELATED


Related symptoms:

  • Neoplasm
  • Hypertension
  • Abnormality of metabolism/homeostasis
  • Depressivity
  • Hypotension


SOURCES: MESH OMIM MENDELIAN

More info about DRUG METABOLISM, POOR, CYP2D6-RELATED

Low match AUTISM, SUSCEPTIBILITY TO, X-LINKED 5; AUTSX5


Autism, the prototypic pervasive developmental disorder (PDD), is usually apparent by 3 years of age. It is characterized by a triad of limited or absent verbal communication, a lack of reciprocal social interaction or responsiveness, and restricted, stereotypic, and ritualized patterns of interests and behavior (Bailey et al., 1996; Risch et al., 1999). 'Autism spectrum disorder,' sometimes referred to as ASD, is a broader phenotype encompassing the less severe disorders Asperger syndrome (see ASPG1; {608638}) and pervasive developmental disorder, not otherwise specified (PDD-NOS). 'Broad autism phenotype' includes individuals with some symptoms of autism, but who do not meet the full criteria for autism or other disorders. Mental retardation coexists in approximately two-thirds of individuals with ASD, except for Asperger syndrome, in which mental retardation is conspicuously absent (Jones et al., 2008). Genetic studies in autism often include family members with these less stringent diagnoses (Schellenberg et al., 2006).For a discussion of genetic heterogeneity of autism, see {209850}.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Delayed speech and language development
  • Atrial septal defect
  • Autism


SOURCES: OMIM MENDELIAN

More info about AUTISM, SUSCEPTIBILITY TO, X-LINKED 5; AUTSX5

Low match HEREDITARY LATE-ONSET PARKINSON DISEASE


Hereditary late-onset Parkinson disease (LOPD) is a form of Parkinson disease (PD), characterized by an age of onset of more than 50 years, tremor at rest, gait complaints and falls, bradykinesia, rigidity and painful cramps. Patients usually present a low risk of developing non motor symptoms, dystonia, dyskinesia and levodopa-induced dyskinesia (LID).

HEREDITARY LATE-ONSET PARKINSON DISEASE Is also known as autosomal dominant late-onset parkinson disease|lopd

Related symptoms:

  • Dysphagia
  • Dystonia
  • Depressivity
  • Dementia
  • Cerebral cortical atrophy


SOURCES: ORPHANET MENDELIAN

More info about HEREDITARY LATE-ONSET PARKINSON DISEASE

Low match CYTOMEGALIC CONGENITAL ADRENAL HYPOPLASIA


Congenital adrenal hypoplasia (AHC) is a rare disorder that can be inherited in an X-linked or autosomal recessive (see {240200}) pattern. In X-linked AHC, primary adrenocortical failure occurs because the adrenal glands lack the permanent adult cortical zone. The remaining cells are termed 'cytomegalic' because they are larger than typical fetal adrenal cells (Hay et al., 1981; Reutens et al., 1999).Patients with AHC usually present in early infancy with primary adrenal failure. Hypogonadotropic hypogonadism (HHG) is a hallmark of the disorder, and is recognized during adolescence because of the absence or interruption of normal pubertal development. Abnormal spermatogenesis has also been observed in these patients. Milder forms of the disease have been described, with adrenal insufficiency sometimes occurring in childhood or even early adulthood. A few cases of partial HHG have been reported (summary by Raffin-Sanson et al., 2013). Transient precocious sexual development in infancy or early childhood can be a prominent feature of AHC (Landau et al., 2010).A contiguous gene syndrome involving a combination of congenital adrenal hypoplasia, glycerol kinase deficiency (OMIM ), and Duchenne muscular dystrophy (DMD ) is caused by deletion of multiple genes on chromosome Xp21 (see {300679}).

CYTOMEGALIC CONGENITAL ADRENAL HYPOPLASIA Is also known as ahch|cytomegalic adrenocortical hypoplasia|x-linked congenital adrenal hypoplasia|adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism|ahc with isolated gonadotropin deficiency|addison disease, x-linked|ahx|ahc with hhg

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Failure to thrive
  • Cryptorchidism
  • Vomiting


SOURCES: OMIM ORPHANET MENDELIAN

More info about CYTOMEGALIC CONGENITAL ADRENAL HYPOPLASIA

Low match NEUROFERRITINOPATHY


Neuroferritinopathy is a late-onset type of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by progressive chorea or dystonia and subtle cognitive deficits.

NEUROFERRITINOPATHY Is also known as neuroferritinopathy|ferritin-related neurodegeneration|hereditary ferritinopathy|adult basal ganglia disease|basal ganglia disease, adult-onset

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Spasticity


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about NEUROFERRITINOPATHY

Low match METACHROMATIC LEUKODYSTROPHY, ADULT FORM


METACHROMATIC LEUKODYSTROPHY, ADULT FORM Is also known as arylsulfatase a deficiency, adult form|mld, adult form

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Muscle weakness
  • Spasticity
  • Dysarthria


SOURCES: ORPHANET MENDELIAN

More info about METACHROMATIC LEUKODYSTROPHY, ADULT FORM

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

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Optic atrophy Uncommon - Between 30% and 50% cases
Depressivity Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia Global developmental delay Mental deterioration Dystonia Cerebral cortical atrophy Feeding difficulties in infancy Spasticity Hypertonia Postural instability Developmental regression Failure to thrive Neurological speech impairment Gait disturbance Sensorineural hearing impairment Cognitive impairment Short stature Dysarthria Microcephaly Muscular hypotonia Constipation Cataract Dementia Growth delay Hyperreflexia Atrial septal defect Behavioral abnormality Abnormal form of the vertebral bodies Psychosis Dehydration Cerebral atrophy Dysphagia Cryptorchidism Hypogonadotrophic hypogonadism Hypogonadism Involuntary movements Attention deficit hyperactivity disorder Ataxia Hypothyroidism Tremor Autism Osteoporosis Ptosis Feeding difficulties Hypertension Chronic constipation Abnormality of the dentition Inguinal hernia Muscle weakness Delayed skeletal maturation Ventriculomegaly Epicanthus Depressed nasal bridge Intellectual disability, mild Macrocephaly Abnormal facial shape Kyphosis Strabismus Pectus excavatum Hypertelorism Scoliosis Protruding ear Pes planus

Rare Symptoms - Less than 30% cases


Nausea and vomiting Malabsorption Carious teeth Delayed puberty Anal atresia Dysmetria Sleep disturbance Dyskinesia Muscle cramps Abnormal cerebellum morphology Sudden cardiac death Abnormality of the cardiovascular system Bilateral sensorineural hearing impairment Type II diabetes mellitus Ventricular hypertrophy Hemiparesis Rigidity Gingival overgrowth Memory impairment Gastroesophageal reflux Stroke Diabetes mellitus Renal insufficiency Hyporeflexia Elevated serum creatine phosphokinase Cerebellar hypoplasia Myoclonus Emotional lability Urinary incontinence Chorea Difficulty walking Abdominal pain Parkinsonism Weight loss Babinski sign Orthostatic hypotension due to autonomic dysfunction Hypomimic face Frequent falls Anxiety Proteinuria Hypertrophic cardiomyopathy Bradykinesia Hallucinations Hypercalciuria Ischemic stroke Smooth philtrum Recurrent respiratory infections Precocious puberty High forehead Osteopenia Hypoglycemia Intellectual disability, moderate Low-set, posteriorly rotated ears Craniosynostosis Abnormal cardiac septum morphology Small for gestational age Otitis media Abnormal heart morphology Microdontia Dysphonia Coarctation of aorta Amblyopia Leukodystrophy Aortic valve stenosis Azoospermia Infantile muscular hypotonia Abnormality of extrapyramidal motor function Urethral stenosis Delayed speech and language development Clinodactyly of the 5th finger Patent ductus arteriosus Mutism Visual hallucinations Decreased nerve conduction velocity Autistic behavior Hemiplegia Hyponatremia Personality changes Adrenal insufficiency Primary adrenal insufficiency Abnormality of visual evoked potentials Delusions Tubulointerstitial nephritis Cerebral ischemia Abnormal social behavior Gait imbalance Writer's cramp Tubulointerstitial abnormality Micrognathia Flexion contracture Wide nasal bridge Ventricular septal defect Hypotension Abnormality of metabolism/homeostasis Short nose Long philtrum Hernia Intrauterine growth retardation Loss of consciousness Wide mouth Thick lower lip vermilion Soft skin Frontal bossing Redundant skin Rectal prolapse Abnormality of dental morphology Aplasia/Hypoplasia of the cerebellum Thick vermilion border Everted lower lip vermilion Widely spaced teeth Hypodontia Peripheral neuropathy Brachydactyly Single transverse palmar crease Macrotia Coarse facial features Skeletal muscle atrophy Downslanted palpebral fissures Kyphoscoliosis Open mouth Dental malocclusion Dilated cardiomyopathy Abnormality of retinal pigmentation Vomiting Joint hyperflexibility Abnormality of neuronal migration Myopathy Cardiomyopathy Respiratory distress Short neck Hydrocephalus Pain Cutis laxa Anteverted nares Telecanthus Hyperlordosis Mitral regurgitation Decreased body weight Visual impairment Narrow face Abnormality of pelvic girdle bone morphology Pointed chin Hoarse voice Adducted thumb Reduced bone mineral density Hemivertebrae Arnold-Chiari malformation Abnormal dermatoglyphics Increased bone mineral density Spina bifida occulta Nephrocalcinosis Sacral dimple Incoordination Bicuspid aortic valve Abnormality of dental enamel Increased body weight Abnormality of the fingernails Progressive hearing impairment Abnormality of the voice Polycystic ovaries Pulmonary artery stenosis Insomnia Megalocornea Abnormality of lipid metabolism Posterior embryotoxon Arnold-Chiari type I malformation Nevus flammeus Poor coordination Abnormality of the vasculature Facial cleft Patellar dislocation Multiple renal cysts Down-sloping shoulders Vocal cord paralysis Blue irides Hypoplasia of the zygomatic bone Right ventricular hypertrophy Restlessness Prematurely aged appearance Cholelithiasis Unilateral renal agenesis Hypercalcemia Failure to thrive in infancy Radioulnar synostosis Portal hypertension Nephritis Chronic otitis media Obsessive-compulsive behavior Hypoplastic toenails High hypermetropia Tracheoesophageal fistula Glucose intolerance Polyuria Open bite Hallux valgus Premature graying of hair Vertebral segmentation defect Celiac disease Nephrolithiasis Diarrhea Recurrent urinary tract infections Congenital thrombocytopenia Toe clinodactyly Abnormality of the anus Annular pancreas Internal hemorrhage Arteria lusoria Bilateral camptodactyly Megakaryocyte dysplasia Macular hypoplasia Abnormality of the curvature of the vertebral column Cleft palate Severe global developmental delay Myopia Malar flattening Midface retrusion Giant platelets Clitoral hypoplasia Obesity Aplasia/Hypoplasia of the earlobes Eyelid coloboma Duodenal atresia Ectopic anus Mitral stenosis Broad hallux phalanx Nuclear cataract Labial hypoplasia Central hypothyroidism Abnormal thrombocyte morphology Broad columella Nasolacrimal duct obstruction Abnormality of the head Long hallux U-Shaped upper lip vermilion Absent speech Glaucoma Recurrent otitis media Hypotelorism Chest pain Vesicoureteral reflux Esotropia Renal agenesis Tetralogy of Fallot Narrow forehead Mitral valve prolapse Macroglossia Large earlobe Cardiomegaly Hypsarrhythmia Renal hypoplasia Small nail Myocardial infarction Full cheeks Broad nasal tip Micropenis Pectus carinatum Arthralgia Umbilical hernia Joint laxity Cleft lip Abnormality of the kidney Irritability Paralysis Oral cleft Joint stiffness Blepharophimosis Scarring Broad forehead Corneal opacity Pulmonic stenosis Genu valgum Hypoplasia of penis Peripheral pulmonary artery stenosis Abnormality of the neck Congenital adrenal hypoplasia High-frequency hearing impairment Gonadotropin deficiency Long penis Decreased circulating aldosterone level Congenital adrenal hyperplasia Abnormal spermatogenesis Absence of pubertal development Oligospermia Adrenocortical hypoplasia Abnormal pyramidal sign Abnormality of eye movement Abnormality of movement Unsteady gait Retinal degeneration Neurodegeneration Decreased circulating cortisol level Renal salt wasting Abnormal autonomic nervous system physiology Low frustration tolerance Agitation Resting tremor Lewy bodies Abnormality of the skeletal system Shuffling gait Hyposmia Parkinsonism with favorable response to dopaminergic medication Spastic/hyperactive bladder Adrenal hyperplasia Monotonic speech Muscular dystrophy Asthma Hyperpigmentation of the skin Accelerated skeletal maturation Shock Adrenal hypoplasia Choreoathetosis Language impairment Akinesia Cholecystitis Loss of speech Increased CSF protein Progressive gait ataxia Bulbar signs Short attention span Vegetative state Progressive peripheral neuropathy Clumsiness EMG: chronic denervation signs Progressive spastic quadriplegia Decerebrate rigidity Progressive psychomotor deterioration Abnormality of glycosphingolipid metabolism Punctate periventricular T2 hyperintense foci Abnormality of proteoglycan metabolism Bowel incontinence Intention tremor Oral-pharyngeal dysphagia Laryngeal dystonia High palate Spastic diplegia Orthostatic hypotension Limb dystonia Blepharospasm Orofacial dyskinesia Disinhibition Abnormality of the basal ganglia Abdominal distention Anarthria Subcortical dementia Micrographia Decreased serum ferritin Akinetic mutism Cavitation of the basal ganglia Reduced visual acuity Impulsivity Apathy Abnormality of the cerebral vasculature Colonic diverticula Increased nuchal translucency Retinal vascular tortuosity Thyroid hypoplasia Abnormal endocardium morphology Aplasia/Hypoplasia of the iris Renal duplication Vascular tortuosity Parathyroid hyperplasia Abnormality of the ankles Overriding aorta Aortic arch aneurysm Obsessive-compulsive trait Nocturia Synostosis of joints Abnormality of the bladder Abnormal glucose tolerance Phonophobia Coronary artery stenosis Subvalvular aortic stenosis Enuresis Villous atrophy Dyslexia Abnormality of refraction Periorbital fullness Decreased plasma carnitine Diastasis recti Abnormal renal morphology Abnormality of nervous system morphology Lacrimation abnormality Bladder diverticulum Cystic renal dysplasia Peptic ulcer Periorbital edema Arterial stenosis Dysgraphia Renal artery stenosis Retinal arteriolar tortuosity Diplopia Atrophy/Degeneration involving the corticospinal tracts Early onset of sexual maturation Dyssynergia Stellate iris Functional abnormality of male internal genitalia Descending aorta hypoplasia Vocal cord dysfunction Neoplasm Nystagmus-induced head nodding Mandibular prognathia Stereotypy Preeclampsia Intraventricular hemorrhage Intellectual disability, severe Gliosis Hypoplasia of the corpus callosum Overfriendliness Thyroid hemiagenesis Hyperacusis Impaired visuospatial constructive cognition Pelvic kidney Food intolerance Infantile hypercalcemia Abnormality of the gastric mucosa Renovascular hypertension Flat cornea Supravalvular aortic stenosis Calcification of the aorta Bilateral vocal cord paralysis Unilateral renal hypoplasia Myxomatous mitral valve degeneration Paroxysmal bursts of laughter Abnormal carotid artery morphology Abnormality of the diencephalon Medial flaring of the eyebrow Elfin facies Retinal dysplasia Flat occiput Missing ribs Hypopigmented skin patches Macular degeneration Pancreatitis External ophthalmoplegia Reduced tendon reflexes Ragged-red muscle fibers Acrocyanosis Goiter Exercise intolerance Hyperkinesis Easy fatigability Growth abnormality Chronic kidney disease Atrioventricular block Cachexia Severe sensorineural hearing impairment Purpura Type I diabetes mellitus Bilateral ptosis Anorexia Abnormal aortic valve morphology Atrial fibrillation Delayed closure of the anterior fontanelle Hypertrichosis Craniofacial hyperostosis Left ventricular hypertrophy Abnormal mitral valve morphology Hypoplastic fingernail Restrictive cardiomyopathy Cerebral visual impairment Clonus Cardiac arrest Truncal ataxia EMG abnormality Generalized hirsutism Spinal canal stenosis Anteriorly placed anus Pulmonary arterial hypertension Thyroiditis Vertebral fusion Progressive sensorineural hearing impairment Glomerulopathy Basal ganglia calcification Hyperthyroidism Rhabdomyolysis Abnormality of immune system physiology Prolonged QT interval Abnormality of digit Pulmonary embolism Distal arthrogryposis Drowsiness Atopic dermatitis Hashimoto thyroiditis Progressive spasticity Multiple lipomas Visual field defect Aortic aneurysm Mask-like facies Abnormality of mitochondrial metabolism Atonic seizures Ophthalmoparesis Thickened calvaria Intestinal obstruction Bifid scrotum Hemiplegia/hemiparesis Hyperkalemia Focal segmental glomerulosclerosis Overlapping toe Broad palm Bundle branch block Aphasia Vestibular dysfunction Dysphasia Status epilepticus Myelopathy Vitiligo Apnea Photophobia EEG abnormality Myalgia Abnormality of the nasal alae Thick nasal septum Bifid sternum Uterine prolapse Drumstick terminal phalanges Abnormality of the pinna Erythema Abnormality of the liver Nyctalopia Lumbar kyphosis Retinoschisis Pruritus Jaundice Acidosis Lethargy Rod-cone dystrophy Cerebellar atrophy Encephalopathy Visual loss Arrhythmia Areflexia Blindness Respiratory insufficiency Dyspnea Fatigue Fever Hepatomegaly Motor delay Gait ataxia Anemia Nystagmus Generalized tonic-clonic seizures Arthrogryposis multiplex congenita Nephrotic syndrome Increased serum lactate Thick nasal alae Abnormal diaphysis morphology Generalized myoclonic seizures Premature loss of primary teeth Sensory impairment Migraine Hip dysplasia Coma Specific learning disability Amenorrhea Cerebral calcification Pigmentary retinopathy Hyperextensibility of the finger joints Generalized-onset seizure Advanced eruption of teeth Narrow iliac wings Polyneuropathy Ophthalmoplegia Paresthesia Congenital cataract Pseudoepiphyses of the metacarpals Stooped posture Cataplexy Hyperconvex fingernails Abnormal tricuspid valve morphology Broad finger Confusion Nephropathy Ichthyosis Vertigo Peripheral axonal neuropathy Lactic acidosis Nausea Polymicrogyria Hirsutism Neonatal hypoglycemia Xerostomia Double outlet right ventricle Delayed eruption of teeth Hip dislocation Dolichocephaly Toe syndactyly Narrow chest Facial asymmetry Talipes Tachycardia Finger syndactyly Bruising susceptibility Iris coloboma Microcornea Premature birth Intestinal malrotation Decreased antibody level in blood Webbed neck Leukemia Skin rash Tapered finger Retrognathia Abnormality of the hair Hypospadias Clinodactyly Wide anterior fontanel Agenesis of corpus callosum Prominent forehead Thin upper lip vermilion Hypoplasia of the maxilla Cerebellar vermis hypoplasia Hydronephrosis Short metacarpal Camptodactyly Postnatal growth retardation Tetraplegia Coloboma Growth hormone deficiency Highly arched eyebrow Abnormality of cardiovascular system morphology Hypoplastic left heart Ectropion Chorioretinal coloboma Heart murmur Hammertoe Headache Aplasia/Hypoplasia of the eyebrow Atrioventricular canal defect Hand polydactyly Partial agenesis of the corpus callosum Slender finger Natal tooth Transposition of the great arteries Wheezing Bipolar affective disorder Abnormal eyelash morphology Trigonocephaly Pyloric stenosis Eczema Short distal phalanx of finger Pancytopenia Pachygyria Short thumb Sinusitis Short toe Wide nose Spina bifida Joint hypermobility Bone marrow hypocellularity Horseshoe kidney Multicystic kidney dysplasia Holoprosencephaly Thick eyebrow Abnormal palate morphology Tachypnea Thrombocytopenia Recurrent infections Heart block Abnormality of the renal tubule Speech apraxia Retinal pigment epithelial atrophy Abnormality of peripheral nerve conduction Proximal tubulopathy Ileus Hemianopia Episodic vomiting Seborrheic dermatitis Motor polyneuropathy Dysesthesia Psychomotor deterioration Muscle fiber atrophy Large hands Persistence of primary teeth Leber optic atrophy Left ventricular failure Stroke-like episode Gastroparesis Cardiorespiratory arrest Hypoparathyroidism Mitochondrial myopathy Progressive external ophthalmoplegia Posterior subcapsular cataract Transient ischemic attack Broad hallux Facial diplegia Anterior hypopituitarism Aortic dissection Renal tubular dysfunction Emphysema Increased CSF lactate Wolff-Parkinson-White syndrome Reduced consciousness/confusion Cutis marmorata Spontaneous hematomas Amaurosis fugax Microphthalmia Low-set ears Bilateral intracranial calcifications Morphological abnormality of the vestibule of the inner ear Morphological abnormality of the inner ear Prominent ear helix Self-injurious behavior Prominent supraorbital ridges Coarse hair Abnormality of acid-base homeostasis Sleep apnea Aplasia/Hypoplasia of the corpus callosum Talipes equinovarus Narrow palate Coxa valga Syndactyly Immunodeficiency Episodic quadriplegia Homonymous hemianopia Auditory hallucinations Spotty hypopigmentation Abnormal nerve conduction velocity Renal Fanconi syndrome Psychotic episodes Abnormality of the cerebellar vermis Crohn's disease Hemeralopia Abnormal macular morphology Paronychia Abnormal cochlea morphology Abnormal mitochondrial morphology Edema of the dorsum of hands Cochlear malformation Progressive night blindness Cochlear degeneration Abnormal mitochondrial shape Paralytic ileus Neoplasm of the gallbladder



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Clinodactyly of the 5th finger, related diseases and genetic alterations Motor delay and Dysmetria, related diseases and genetic alterations

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