Feeding difficulties, and Schizophrenia

Diseases related with Feeding difficulties and Schizophrenia

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

Top matches:

The metachromatic leukodystrophies comprise several allelic disorders. Kihara (1982) recognized 5 allelic forms of MLD: late infantile, juvenile, and adult forms, partial cerebroside sulfate deficiency, and pseudoarylsulfatase A deficiency; and 2 nonallelic forms: metachromatic leukodystrophy due to saposin B deficiency (OMIM ) and multiple sulfatase deficiency or juvenile sulfatidosis (OMIM ), a disorder that combines features of a mucopolysaccharidosis with those of metachromatic leukodystrophy.

METACHROMATIC LEUKODYSTROPHY, LATE INFANTILE FORM Is also known as sulfatide lipidosis|arsa deficiency|mld, late infantile form|arylsulfatase a deficiency|cerebroside sulfatase deficiency|metachromatic leukoencephalopathy|arylsulfatase a deficiency, late infantile form|cerebral sclerosis, diffuse, metachromatic form

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about METACHROMATIC LEUKODYSTROPHY, LATE INFANTILE FORM

The Lujan-Fryns syndrome or X-linked mental retardation (XLMR) with marfanoid habitus syndrome is a syndromic X-linked form of intellectual disability, associated with tall, marfanoid stature, distinct facial dysmorphism and behavioral problems.

X-LINKED INTELLECTUAL DISABILITY WITH MARFANOID HABITUS Is also known as lujan syndrome|mental retardation, x-linked, with marfanoid habitus|lujan-fryns syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY WITH MARFANOID HABITUS

17q12 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 17 characterized by renal cystic disease, maturity onset diabetes of the young type 5, and neurodevelopmental disorders, such as cognitive impairment, developmental delay (particularly of speech), autistic traits and autism spectrum disorder. Müllerian aplasia in females, macrocephaly, mild facial dysmorphism (high forehead, deep set eyes and chubby cheeks) and transient hypercalcaemia have also been reported.

17Q12 MICRODELETION SYNDROME Is also known as del(17)(q12)|monosomy 17q12

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 17Q12 MICRODELETION SYNDROME

Other less relevant matches:

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

22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency.

22Q11.2 DELETION SYNDROME Is also known as monosomy 22q11|digeorge sequence|sedlackova syndrome|takao syndrome|velocardiofacial syndrome|shprintzen syndrome|conotruncal anomaly face syndrome|digeorge syndrome|catch 22|cayler cardiofacial syndrome|microdeletion 22q11.2|22q11ds

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about 22Q11.2 DELETION SYNDROME

Medium 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

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

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

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

Top 5 symptoms//phenotypes associated to Feeding difficulties and Schizophrenia

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Muscular hypotonia Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Feeding difficulties and Schizophrenia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Scoliosis

Uncommon Symptoms - Between 30% and 50% cases

Behavioral abnormality

Common Symptoms - More than 50% cases

Feeding difficulties in infancy

Uncommon Symptoms - Between 30% and 50% cases

Short stature Cryptorchidism Epicanthus Neurological speech impairment Attention deficit hyperactivity disorder Microcephaly Failure to thrive Protruding ear Cataract Autism Optic atrophy Generalized hypotonia Cognitive impairment Growth delay Micrognathia Intellectual disability, mild Abnormality of the dentition Ventricular septal defect Atrial septal defect Joint hyperflexibility Pectus excavatum Frontal bossing Depressed nasal bridge Macrocephaly Downslanted palpebral fissures Intrauterine growth retardation Hypertelorism Strabismus Sensorineural hearing impairment High forehead Abnormal facial shape Postural instability Hypothyroidism Ptosis Depressivity Cerebral cortical atrophy Inguinal hernia Constipation Mental deterioration Gait disturbance Congestive heart failure Hypogonadism Gastroesophageal reflux Osteoporosis Anxiety Patent ductus arteriosus Carious teeth Anal atresia Long philtrum Short neck Wide nasal bridge Ventriculomegaly Psychosis Chronic constipation Cerebral atrophy Hypertonia Hypogonadotrophic hypogonadism Urethral stenosis Renal hypoplasia Kyphosis Diabetes mellitus Malar flattening Hydrocephalus Renal insufficiency Delayed skeletal maturation Pes planus Telecanthus Abnormal form of the vertebral bodies Open mouth Brachydactyly Dehydration High palate Hallucinations Pain Spasticity Flexion contracture Peripheral neuropathy Hyperreflexia Dysarthria Myopathy Dystonia Ataxia Muscle weakness Developmental regression Low-set ears Dementia Cleft palate Bilateral sensorineural hearing impairment

Rare Symptoms - Less than 30% cases

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


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Abnormality of the skeletal system and Coronary artery atherosclerosis, related diseases and genetic alterations