Failure to thrive, and Progressive hearing impairment

Diseases related with Failure to thrive and Progressive hearing impairment

In the following list you will find some of the most common rare diseases related to Failure to thrive and Progressive hearing impairment that can help you solving undiagnosed cases.

Top matches:

Infantile cerebellar-retinal degeneration is a rare, neurodegenerative disorder characterized by an early onset of truncal hypotonia, variable forms of seizures, athetosis, severe global developmental delay, intellectual disability and various ophthalmologic abnormalities, including strabismus, nystagmus, optic atrophy and retinal degeneration.

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about INFANTILE CEREBELLAR-RETINAL DEGENERATION

Glycogen storage disease III is an autosomal recessive metabolic disorder caused by deficiency of the glycogen debrancher enzyme and associated with an accumulation of abnormal glycogen with short outer chains. Most patients are enzyme-deficient in both liver and muscle (IIIa), but about 15% are enzyme-deficient in liver only (IIIb) (Shen et al., 1996). These subtypes have been explained by differences in tissue expression of the deficient enzyme (Endo et al., 2006). In rare cases, selective loss of only 1 of the 2 debranching activities, glucosidase or transferase, results in type IIIc or IIId, respectively. (Van Hoof and Hers, 1967; Ding et al., 1990).Clinically, patients with GSD III present in infancy or early childhood with hepatomegaly, hypoglycemia, and growth retardation. Muscle weakness in those with IIIa is minimal in childhood but can become more severe in adults; some patients develop cardiomyopathy (Shen et al., 1996).Lucchiari et al. (2007) provided a review of GSD III.

GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, CHILDHOOD COMBINED HEPATIC AND MYOPATHIC FORM Is also known as glycogenosis type iv, childhood combined hepatic and myopathic form|gde deficiency|glycogen storage disease type iv, childhood combined hepatic and myopathic form|gsd type 4, childhood combined hepatic and myopathic form|glycogenosis due to glycogen branc

Related symptoms:

  • Seizures
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, CHILDHOOD COMBINED HEPATIC AND MYOPATHIC FORM

High match NORRIE DISEASE

Norrie disease (ND) is a rare X-linked genetic vitreoretinal condition characterized by abnormal retinal development with congenital blindness. Common associated manifestations include sensorineural hearing loss and developmental delay, intellectual disability and/or behavioral disorders.

NORRIE DISEASE Is also known as episkopi blindness|norrie-warburg disease|atrophia bulborum hereditaria

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about NORRIE DISEASE

Other less relevant matches:

D-bifunctional protein deficiency is a disorder of peroxisomal fatty acid beta-oxidation. See also peroxisomal acyl-CoA oxidase deficiency (OMIM ), caused by mutation in the ACOX1 gene (OMIM ) on chromosome 17q25. The clinical manifestations of these 2 deficiencies are similar to those of disorders of peroxisomal assembly, including X-linked adrenoleukodystrophy (ALD ), Zellweger cerebrohepatorenal syndrome (see {214100}) and neonatal adrenoleukodystrophy (NALD; see {601539}) (Watkins et al., 1995).DBP deficiency has been classified into 3 subtypes depending upon the deficient enzyme activity. Type I is a deficiency of both 2-enoyl-CoA hydratase and 3-hydroxyacyl-CoA dehydrogenase; type II is a deficiency of hydratase activity alone; and type III is a deficiency of dehydrogenase activity alone. Virtually all patients with types I, II, and III have a severe phenotype characterized by infantile-onset of hypotonia, seizures, and abnormal facial features, and most die before age 2 years. McMillan et al. (2012) proposed a type IV deficiency on the basis of less severe features; these patients have a phenotype reminiscent of Perrault syndrome (PRLTS1 ). Pierce et al. (2010) noted that Perrault syndrome and DBP deficiency overlap clinically and suggested that DBP deficiency may be underdiagnosed.

D-BIFUNCTIONAL PROTEIN DEFICIENCY Is also known as peroxisomal bifunctional enzyme deficiency|dbp deficiency|17-beta-hydroxysteroid dehydrogenase iv deficiency|pbfe deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about D-BIFUNCTIONAL PROTEIN DEFICIENCY

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

High match ALSTRÖM SYNDROME

Alström syndrome (AS) is a multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM; see this term), and progressive hepatic and renal dysfunction.

ALSTRÖM SYNDROME Is also known as alss

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ALSTRÖM SYNDROME

High 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

Riboflavin transporter deficiency (RTD) is a progressive motor neuron disorder characterized by respiratory insufficiency, sensorineural deafness and progressive ponto-bulbar palsy.

RIBOFLAVIN TRANSPORTER DEFICIENCY Is also known as sensorineural hearing loss-pontobulbar palsy syndrome|brown-vialetto-van laere syndrome

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about RIBOFLAVIN TRANSPORTER DEFICIENCY

Spinocerebellar ataxia with epilepsy is a rare, mitochondrial DNA maintenance syndrome characterized by cerebellar ataxia, sensory peripheral neuropathy, myoclonus, epilepsy, progressive cognitive impairment, late-onset ptosis and external ophthalmoplegia. Liver failure may also occur, most often in association with the use of antiepileptic drug sodium valproate.

SPINOCEREBELLAR ATAXIA WITH EPILEPSY Is also known as mitochondrial spinocerebellar ataxia with epilepsy|mscae|sensory ataxic neuropathy with mitochondrial dna deletions, autosomal recessive|scae

Related symptoms:

  • Seizures
  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA WITH EPILEPSY

Medium 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 Failure to thrive and Progressive hearing impairment

Symptoms // Phenotype % cases
Seizures Very Common - Between 80% and 100% cases
Hearing impairment Very Common - Between 80% and 100% cases
Sensorineural hearing impairment Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Visual impairment Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Failure to thrive and Progressive hearing impairment. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Global developmental delay

Uncommon Symptoms - Between 30% and 50% cases

Ataxia

Common Symptoms - More than 50% cases

Growth delay

Uncommon Symptoms - Between 30% and 50% cases

Cataract

Common Symptoms - More than 50% cases

Skeletal muscle atrophy

Uncommon Symptoms - Between 30% and 50% cases

Congestive heart failure

Common Symptoms - More than 50% cases

Nystagmus

Uncommon Symptoms - Between 30% and 50% cases

Visual loss Depressivity Short stature Cardiomyopathy Muscle weakness Hepatomegaly Hypertension Muscular hypotonia Cognitive impairment Myoclonus Cerebral cortical atrophy Optic atrophy Hyporeflexia Cardiomegaly Respiratory insufficiency Diabetes mellitus Carious teeth Elevated serum creatine phosphokinase Pneumonia Elevated hepatic transaminase Abnormality of the dentition Abnormality of the liver Aplasia/Hypoplasia of the cerebellum Pain Sleep disturbance Peripheral neuropathy Scoliosis Strabismus Microcephaly Generalized hypotonia Blindness Behavioral abnormality Autism Depressed nasal bridge Myopathy Abdominal pain Ptosis Tremor Constipation Retinal degeneration Abnormality of eye movement Kyphosis Encephalopathy Dysarthria Feeding difficulties Cachexia Recurrent respiratory infections Delayed puberty Kyphoscoliosis Hallucinations Migraine Delayed speech and language development Respiratory distress Renal insufficiency Headache Corneal opacity Attention deficit hyperactivity disorder Tubulointerstitial nephritis Retinopathy Protruding ear Irritability Developmental regression Anxiety EEG abnormality Hypogonadism Vomiting Hypogonadotrophic hypogonadism Dyspnea Dysphagia Stroke Nyctalopia Mental deterioration Dilated cardiomyopathy Ophthalmoplegia Proteinuria Progressive visual loss Hirsutism Gastroesophageal reflux Feeding difficulties in infancy Osteopenia Hypothyroidism Gait disturbance Weight loss Abnormality of the cardiovascular system Long philtrum Type II diabetes mellitus Macrocephaly Involuntary movements Abnormal facial shape Micrognathia Hypertelorism Left ventricular hypertrophy Gingival overgrowth Generalized hirsutism Delayed skeletal maturation Short neck Glaucoma Apnea Scarring Deeply set eye Broad nasal tip Full cheeks Otitis media Obesity Malar flattening Ventricular hypertrophy Hypertrophic cardiomyopathy Increased body weight Severe global developmental delay Pallor Myalgia Cerebellar atrophy Acidosis Recurrent otitis media Areflexia Hyperreflexia Hypertonia

Rare Symptoms - Less than 30% cases

Large earlobe Malabsorption Dysmetria Paresthesia Peripheral axonal neuropathy Lactic acidosis Nausea Nephropathy Polyneuropathy Sleep apnea Renovascular hypertension Postural instability Nausea and vomiting Generalized myoclonic seizures Urethral stenosis Sudden cardiac death Increased serum lactate Hip dysplasia Endocardial fibroelastosis Specific learning disability Pes cavus Pigmentary retinopathy Flexion contracture Dystonia Wide nasal bridge Gait ataxia Abnormality of dental enamel Mitral regurgitation Myocardial infarction Microdontia Arrhythmia Macroglossia Cerebellar hypoplasia Rod-cone dystrophy Osteoporosis Everted lower lip vermilion Widely spaced teeth Thick vermilion border Abnormal form of the vertebral bodies Genu valgum Craniosynostosis Wide mouth Jaundice Photophobia Diarrhea Umbilical hernia Coarse facial features Inguinal hernia Neurological speech impairment Hernia Generalized tonic-clonic seizures Joint stiffness Hemiparesis Abnormal renal morphology Hepatosplenomegaly Abnormality of peripheral nerve conduction Gastroparesis Abnormal nerve conduction velocity Tubulointerstitial abnormality Thoracic scoliosis Polyuria Splenomegaly Glucose intolerance Patent ductus arteriosus Diabetes insipidus Obsessive-compulsive behavior Chronic otitis media Pes planus Conductive hearing impairment Seborrheic dermatitis Abnormality of the kidney Nephritis Portal hypertension Autistic behavior Precocious puberty Cholelithiasis Nephrocalcinosis Gynecomastia Chronic diarrhea Thickened skin Recurrent urinary tract infections Dry skin Asthma Vesicoureteral reflux Retinal pigment epithelial atrophy Gait imbalance Pulmonary arterial hypertension Pancreatitis Status epilepticus Optic disc pallor Hypertrichosis Right ventricular hypertrophy Gingivitis Poor coordination Hyperventilation Decreased body weight Anorexia Abnormality of retinal pigmentation Cerebral visual impairment Peripheral visual field loss Macular degeneration External ophthalmoplegia Cerebral ischemia Ragged-red muscle fibers Ischemic stroke Schizophrenia Goiter Hypercalciuria Bilateral ptosis Hemiplegia Abnormality of mitochondrial metabolism Ophthalmoparesis Vestibular dysfunction Progressive sensorineural hearing impairment Glomerulopathy Progressive external ophthalmoplegia Posterior subcapsular cataract Pulmonic stenosis Polycystic ovaries Fatigue Abnormality of the vasculature Hypotelorism Intellectual disability, profound Psychosis Clonus Opacification of the corneal stroma Edema Abnormal retinal morphology Abnormality of immune system physiology Retinal fold Aggressive behavior Abnormal chorioretinal morphology Abnormality of the diencephalon Abnormal cochlea morphology Epicanthus Frontal bossing Ventriculomegaly Dilatation Pectus excavatum High forehead Confusion Macrotia Polymicrogyria Cirrhosis Intellectual disability, mild Midface retrusion Anteverted nares Hyperglycemia Generalized-onset seizure Retinal dystrophy Abnormality of the eye Proximal muscle weakness Thin vermilion border Dementia Hepatic failure Hypertriglyceridemia Intellectual disability, severe Hepatic fibrosis Decreased liver function Sinusitis Hyperlipidemia Cryptorchidism Spasticity Dolichocephaly Hypoplasia of the corpus callosum Hepatic steatosis Ascites Motor delay Gliosis Primary adrenal insufficiency Split hand Abdominal distention Decreased nerve conduction velocity Enuresis Villous atrophy Dyslexia Abnormality of refraction Periorbital fullness Decreased plasma carnitine Subvalvular aortic stenosis Peripheral pulmonary artery stenosis Abnormality of the neck Lacrimation abnormality Bladder diverticulum Cystic renal dysplasia Peptic ulcer Deformed humerus Thick skull base Periorbital edema Rectal prolapse Arterial stenosis Abnormality of the cerebral vasculature Proximal tapering of metacarpals Enlarged vertebral pedicles Bullet-shaped phalanges of the hand Restlessness Abnormality of the wing of the ilium Insomnia Megalocornea Broad long bone diaphyses Abnormality of lipid metabolism Posterior embryotoxon Arnold-Chiari type I malformation Nevus flammeus Chronic constipation Soft skin Pulmonary artery stenosis Patellar dislocation Multiple renal cysts Down-sloping shoulders Vocal cord paralysis Blue irides Delayed tarsal ossification Hypoplasia of the zygomatic bone Dysgraphia Parathyroid hyperplasia Abnormality of joint mobility Supravalvular aortic stenosis Pelvic kidney Food intolerance Infantile hypercalcemia Broad ischia Abnormality of the gastric mucosa Abnormal social behavior Flaring of rib cage Flat cornea Impaired visuospatial constructive cognition Retinal arteriolar tortuosity Calcification of the aorta Unilateral renal hypoplasia Myxomatous mitral valve degeneration Paroxysmal bursts of laughter Abnormality of lysosomal metabolism Abnormal carotid artery morphology Medial flaring of the eyebrow Elfin facies Hyperacusis Coronary artery stenosis Abnormality of nervous system morphology Renal duplication Phonophobia Prematurely aged appearance Abnormal glucose tolerance Increased nuchal translucency Retinal vascular tortuosity Thyroid hypoplasia Abnormal endocardium morphology Aplasia/Hypoplasia of the iris Colonic diverticula Renal artery stenosis Vascular tortuosity Abnormality of the ankles Overriding aorta Aortic arch aneurysm Obsessive-compulsive trait Nocturia Synostosis of joints Abnormality of the bladder Facial cleft Premature graying of hair High hypermetropia Esotropia Smooth philtrum Oral cleft Athetosis Bradycardia Hypodontia Progressive microcephaly Chest pain Dental malocclusion Renal agenesis Abnormal mandible coronoid process morphology Stiff interphalangeal joints Dehydration Tetralogy of Fallot Narrow forehead Mitral valve prolapse Hypoplasia of penis Abnormality of extrapyramidal motor function Coarctation of aorta Joint hyperflexibility Small for gestational age Renal hypoplasia Joint laxity Abnormal heart morphology Abnormal mandibular ramus morphology Abnormality of premolar morphology Clinodactyly of the 5th finger Micropenis Arthralgia Vegetative state Demyelinating peripheral neuropathy Cleft lip Broad forehead Intellectual disability, moderate Low-set, posteriorly rotated ears Hyperlordosis Paralysis Central apnea Poor eye contact Muscle fibrillation Blepharophimosis Abnormal cardiac septum morphology Hypsarrhythmia Small nail Celiac disease Radioulnar synostosis Adducted thumb Abnormality of pelvic girdle bone morphology Incoordination Dysphonia Redundant skin Hypercalcemia Increased size of nasopharyngeal adenoids Failure to thrive in infancy Abnormality of the voice Arnold-Chiari malformation Unilateral renal agenesis Abnormality of dental morphology Hypoplastic toenails Tracheoesophageal fistula Loss of consciousness Open bite Hallux valgus Mandibular condyle hypoplasia Vertebral segmentation defect Reduced bone mineral density Infantile muscular hypotonia Thick lower lip vermilion Narrow face Metabolic acidosis Open mouth Abnormality of the tympanic membrane Abnormality of glycosaminoglycan metabolism Nephrolithiasis Amblyopia Aortic valve stenosis Hoarse voice Increased bone mineral density Sacral dimple Pointed chin Hemivertebrae Muscular hypotonia of the trunk Abnormality of the fingernails Spina bifida occulta Cutis laxa Abnormal dermatoglyphics Agenesis of corpus callosum Bicuspid aortic valve Bilateral vocal cord paralysis Overfriendliness Thyroid hemiagenesis Abnormality of the clavicle Palpebral edema Protuberant abdomen Shallow orbits Abnormality of the elbow Recurrent lower respiratory tract infections Obstructive sleep apnea Abnormality of the skull Dermatan sulfate excretion in urine Diastasis recti Short clavicles Dysostosis multiplex Abnormality of the respiratory system Tracheal stenosis Beaking of vertebral bodies Communicating hydrocephalus Upper airway obstruction Hypoplastic ilia Lumbar kyphosis Hypoplasia of the odontoid process Protruding tongue Conical tooth Heart murmur Corneal dystrophy Hyperammonemia Increased intracranial pressure Recurrent upper respiratory tract infections Prominent supraorbital ridges Back pain Language impairment Stridor Toe walking Rhinitis Metatarsus adductus Multiple joint contractures Flared metaphysis Coronary artery atherosclerosis Restrictive ventilatory defect Abnormal heart valve morphology Thickened calvaria Arthropathy Spinal canal stenosis Angina pectoris Cor pulmonale Aortic regurgitation Abnormality of the gingiva Short mandibular rami Meckel diverticulum Narrow pelvis bone Flared nostrils Large sella turcica Anterior rib cupping Prominent sternum J-shaped sella turcica Atlantoaxial dislocation Difficulty standing Urinary glycosaminoglycan excretion Hip subluxation Heparan sulfate excretion in urine Abnormal hand morphology Enlargement of the wrists Abnormality of the middle ear ossicles Hernia of the abdominal wall Cervical myelopathy Calvarial hyperostosis Anterior open bite Cervical kyphosis Flared iliac wings Abnormal CNS myelination Foam cells Pulmonary edema Abnormal mitral valve morphology Constrictive median neuropathy Abnormal aortic valve morphology Hypoplasia of teeth Sagittal craniosynostosis Myelopathy Rhinorrhea Sclerosis of skull base Broad femoral neck Delayed ossification of carpal bones Diaphyseal thickening Abnormal diaphysis morphology Recurrent ear infections Chronic rhinitis Biconcave vertebral bodies Mucopolysacchariduria Large face Cerebral palsy Coxa vara Cervical subluxation Frequent falls Short nose Distal muscle weakness Falls Distal sensory impairment Progressive cerebellar ataxia Brain atrophy Focal-onset seizure Neuronal loss in central nervous system Limb ataxia Abnormal cranial nerve morphology Increased variability in muscle fiber diameter Sensory axonal neuropathy Impotence Mildly elevated creatine phosphokinase Axonal degeneration Gaze-evoked nystagmus Decreased number of peripheral myelinated nerve fibers Centrally nucleated skeletal muscle fibers Abnormality of macular pigmentation Iris hypopigmentation Hypoplasia of the femoral head Enlarged tonsils Nystagmus-induced head nodding Thoracolumbar kyphoscoliosis Early onset of sexual maturation Dyssynergia Stellate iris Functional abnormality of male internal genitalia Descending aorta hypoplasia Hypoplastic cervical vertebrae Vocal cord dysfunction Bulbar palsy C1-C2 subluxation Atrophy/Degeneration involving the corticospinal tracts Facial palsy Limb muscle weakness Abnormal autonomic nervous system physiology Abnormality of the tonsils Cranial nerve paralysis Calcification of falx cerebri Abnormality of color vision Axonal loss Progressive gait ataxia Spastic paraparesis Abnormality of the ribs Thick eyebrow Wide nose Inability to walk High, narrow palate Neurodegeneration Delayed eruption of teeth Limitation of joint mobility Abnormality of the skin Lumbar hyperlordosis Synophrys Interphalangeal joint contracture of finger Progressive neurologic deterioration Encephalocele Long eyelashes Abnormality of epiphysis morphology Exotropia Abnormal vertebral morphology Elbow flexion contracture Coxa valga Abnormality of skin pigmentation Abnormality of mucopolysaccharide metabolism Sensory ataxia Multiple mitochondrial DNA deletions Intestinal pseudo-obstruction Positive Romberg sign Abnormality of the pubic bone Acute encephalopathy Muscle fiber necrosis Cytochrome C oxidase-negative muscle fibers Impaired distal vibration sensation Impaired distal proprioception Subsarcolemmal accumulations of abnormally shaped mitochondria Pectus carinatum Sensory ataxic neuropathy Atrophy/Degeneration involving the spinal cord Abnormality of the skeletal system Hydrocephalus Prominent forehead Proptosis Skeletal dysplasia Camptodactyly of finger Abnormal pyramidal sign Absent speech Receptive language delay Atrial septal defect Mitochondrial myopathy Atopic dermatitis Hashimoto thyroiditis Abnormality of visual evoked potentials Neonatal hypoglycemia Vitiligo Xerostomia Heart block Hypoparathyroidism Abnormality of the retinal vasculature Distal arthrogryposis Abnormality of the helix Transient ischemic attack Delusions Cardiorespiratory arrest Facial diplegia Aortic dissection Renal tubular dysfunction Retinal dysplasia Visual hallucinations Drowsiness Pulmonary embolism Wolff-Parkinson-White syndrome Dysphasia Hemiplegia/hemiparesis Focal segmental glomerulosclerosis Abnormality of neuronal migration Overlapping toe Adrenal insufficiency Bundle branch block Aphasia Venous insufficiency Hyperkalemia Thyroiditis Visual field defect Prolonged QT interval Multiple lipomas Vertebral fusion Anterior synechiae of the anterior chamber Abnormal pupil morphology Basal ganglia calcification Hyperthyroidism Rhabdomyolysis Increased CSF lactate Vitreoretinopathy Bifid scrotum Abnormal mitochondrial morphology Renal Fanconi syndrome Psychotic episodes Abnormality of the cerebellar vermis Crohn's disease Hemeralopia Abnormal macular morphology Spotty hypopigmentation Paronychia Edema of the dorsum of hands Auditory hallucinations Cochlear malformation Progressive night blindness Cochlear degeneration Abnormal mitochondrial shape Paralytic ileus Homonymous hemianopia Abnormality of acid-base homeostasis Episodic quadriplegia Bilateral intracranial calcifications Narrow nasal bridge Amaurosis fugax Reduced consciousness/confusion Ileus Sclerocornea Anterior hypopituitarism Stroke-like episode Left ventricular failure Speech apraxia Hypoplasia of the iris Severe vision loss Proximal tubulopathy Hemianopia Spontaneous hematomas Abnormality of the renal tubule Episodic vomiting Motor polyneuropathy Dysesthesia Psychomotor deterioration Muscle fiber atrophy Writer's cramp Persistence of primary teeth Leber optic atrophy Mask-like facies Intestinal obstruction Morphological abnormality of the inner ear Congenital cataract Aspiration Large fontanelles Pachygyria Pruritus Heterotopia Lethargy Arthrogryposis multiplex congenita Cholestasis Peripheral demyelination Abnormality of the pinna Anal atresia Ichthyosis Vertigo Renal cyst Talipes Abnormality of the cerebral white matter Coma Neonatal hypotonia Muscle cramps Erythema Hammertoe Retrognathia Cerebral dysmyelination Anemia Generalized cerebral atrophy/hypoplasia Calcific stippling Fetal ascites Cerebral atrophy Renal cortical microcysts Chylous ascites Cerebral hypoplasia Enterocolitis Decreased muscle mass Bile duct proliferation Corpus callosum atrophy Undetectable electroretinogram Aspiration pneumonia Adrenal hypoplasia Scaphocephaly Cortical dysplasia Thoracic hypoplasia Delayed cranial suture closure Abnormal cerebellum morphology Sensory impairment Personality changes Hyperkinesis Abnormal vitreous humor morphology Posterior synechiae of the anterior chamber Reduced tendon reflexes Phthisis bulbi Erectile abnormalities Hypopigmented skin patches Mutism Leukocoria Easy fatigability Purpura Growth abnormality Chronic kidney disease Atrioventricular block Shallow anterior chamber Exudative vitreoretinopathy Remnants of the hyaloid vascular system Aortic aneurysm Hyponatremia Retinoblastoma Corneal degeneration Exercise intolerance Polyhydramnios High palate Memory impairment Upslanted palpebral fissure Amenorrhea Cerebral calcification Hypospadias Bilateral sensorineural hearing impairment Nephrotic syndrome Talipes equinovarus Atrial fibrillation Low-set ears Type I diabetes mellitus Vascular neoplasm Anterior chamber synechiae Neoplasm of the eye Uterine rupture Aplasia/Hypoplasia of the lens Cardiac arrest Truncal ataxia EMG abnormality Retinopathy of prematurity Morphological abnormality of the vestibule of the inner ear Prominent ear helix Ventricular septal defect Bull's eye maculopathy Pyelonephritis Chills Acute pancreatitis Achromatopsia Hypoglycemia Hepatic encephalopathy Abnormality of female external genitalia Multinodular goiter Vertical nystagmus Urinary retention Increased total bilirubin Frontal balding Hematemesis Melena First degree atrioventricular block Abnormality of the optic disc Decreased glomerular filtration rate Abnormal spermatogenesis Chronic infection Poor fine motor coordination Arteriosclerosis Lumbar scoliosis Restrictive cardiomyopathy Tubular atrophy Myocarditis Oligospermia Male hypogonadism Myocardial fibrosis Chronic fatigue Chronic obstructive pulmonary disease Esophageal varix High-frequency hearing impairment Elevated C-reactive protein level Ovarian cyst Decreased HDL cholesterol concentration Menstrual irregularities Carcinoma Disinhibition Abnormal renal physiology Abnormal left ventricle morphology Testicular atrophy Tubulointerstitial fibrosis Abnormality of the urethra Abnormality of dental color Acute hepatic failure Precocious puberty in females Granular macular appearance Thickened ears Dilatation of the bladder Unilateral breast hypoplasia Glue ear Recurrent cystitis Widely-spaced incisors Abnormal retinal artery morphology EEG with occipital slowing Hyperostosis frontalis interna Abnormality of prothrombin Abnormality of renal calyx morphology Localized hirsutism Vitreous haze Abnormality of the femoral head Cleft palate Immunodeficiency Myopia Intrauterine growth retardation Fever Chronic active hepatitis Epigastric pain Hypoplastic male external genitalia Urethral stricture Impaired temperature sensation Female hypogonadism Abnormal muscle tone Albuminuria Thin upper lip vermilion Squared iliac bones Urethral obstruction Abnormality of the pituitary gland Hepatic necrosis Abnormal adipose tissue morphology Chronic hepatic failure Facial hirsutism ST segment depression Multifocal atrial tachycardia Childhood-onset truncal obesity High-frequency sensorineural hearing impairment Increased circulating androgen level Exudative retinopathy Nonproductive cough Recurrent bronchitis Elevated serum creatinine Self-injurious behavior Insulin resistance Gastrointestinal hemorrhage Growth hormone deficiency Decreased testicular size Cyanosis Hepatitis Epidermal acanthosis Microphthalmia Neoplasm Hyperpigmentation of the skin Urinary incontinence Ketotic hypoglycemia Short toe Hypergonadotropic hypogonadism Recurrent pneumonia Horizontal nystagmus Periportal fibrosis Absence seizures Accelerated skeletal maturation Acanthosis nigricans Round face Abnormality of the nervous system Hypercholesterolemia Stereotypy Ectopia lentis Clinodactyly Intellectual disability, progressive Alopecia Hyperhidrosis Polydactyly Respiratory failure Hyperkeratosis Postnatal growth retardation Tachycardia Respiratory tract infection Retinal detachment Sparse hair Cough Hypotrichosis Hypermetropia Infertility Lymphadenopathy Stage 5 chronic kidney disease Atherosclerosis Tachypnea Attenuation of retinal blood vessels Severe sensorineural hearing impairment Agenesis of permanent teeth Glycosuria Bronchitis Hyperuricemia Increased number of teeth Subcapsular cataract Pericarditis Autoimmune thrombocytopenia Hypoventilation Polyphagia Insulin-resistant diabetes mellitus Retinal atrophy Epistaxis Alopecia of scalp Distal amyotrophy Oligomenorrhea Broad foot Ketoacidosis Pendular nystagmus Short finger Chorioretinal atrophy Cone/cone-rod dystrophy Recurrent sinusitis Micronodular cirrhosis Abnormality of the hand Skeletal myopathy Elevated alkaline phosphatase Recurrent corneal erosions Hyperinsulinemia Lipodystrophy Ketosis Polydipsia Constriction of peripheral visual field Pericardial effusion Impaired vibratory sensation Acne Hyperostosis Progressive muscle weakness Emphysema Pulmonary fibrosis Hydroureter Urinary urgency Truncal obesity Delayed ossification of the hand bones


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