Congestive heart failure, and Macular degeneration

Diseases related with Congestive heart failure and Macular degeneration

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

Top matches:

Spinocerebellar ataxia type 7 (SCA7), currently the only known form of autosomal dominant cerebellar ataxia type 2 (ADCA2; see this term), is a neurodegenerative disorder characterized by progressive ataxia, motor system abnormalities, dysarthria, dysphagia and retinal degeneration leading to progressive blindness.

SPINOCEREBELLAR ATAXIA TYPE 7 Is also known as ataxia with pigmentary retinopathy|sca7|cerebellar syndrome-pigmentary maculopathy syndrome

Related symptoms:

  • Global developmental delay
  • Ataxia
  • Nystagmus
  • Failure to thrive
  • Muscle weakness


SOURCES: ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 7

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

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

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about PSEUDOXANTHOMA ELASTICUM

Glycogen storage disease II, an autosomal recessive disorder, is the prototypic lysosomal storage disease. In the classic infantile form (Pompe disease), cardiomyopathy and muscular hypotonia are the cardinal features; in the juvenile and adult forms, involvement of skeletal muscles dominates the clinical picture Matsuishi et al. (1984).

GLYCOGEN STORAGE DISEASE II; GSD2 Is also known as amd|cardiomegalia glycogenica diffusa|alpha-1,4-glucosidase deficiency|gaa deficiency|acid maltase deficiency|pompe disease|glycogenosis, generalized, cardiac form|acid alpha-glucosidase deficiency|gsd ii

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about GLYCOGEN STORAGE DISEASE II; GSD2

Other less relevant matches:

Medium match WERNER SYNDROME

Werner syndrome (WS) is a rare inherited syndrome characterized by premature aging with onset in the third decade of life and with cardinal clinical features including bilateral cataracts, short stature, graying and thinning of scalp hair, characteristic skin disorders and premature onset of additional age-related disorders.

WERNER SYNDROME Is also known as ws|adult progeria

Related symptoms:

  • Short stature
  • Neoplasm
  • Pain
  • Cataract
  • Visual impairment


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about WERNER SYNDROME

Medium match VICI SYNDROME

Vici syndrome is a very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency.

VICI SYNDROME Is also known as immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum|corpus callosum agenesis-cataract-immunodeficiency syndrome|dionisi-vici-sabetta-gambarara syndrome

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about VICI SYNDROME

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

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

Aceruloplasminemia is an adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by anemia, retinal degeneration, diabetes and various neurological symptoms.

ACERULOPLASMINEMIA Is also known as hereditary ceruloplasmin deficiency

Related symptoms:

  • Ataxia
  • Spasticity
  • Cognitive impairment
  • Anemia
  • Delayed speech and language development


SOURCES: OMIM ORPHANET MENDELIAN

More info about ACERULOPLASMINEMIA

Maternally inherited diabetes and deafness (MIDD) is a mitochondrial disorder characterized by maternally transmitted diabetes and sensorineural deafness.

MATERNALLY-INHERITED DIABETES AND DEAFNESS Is also known as ballinger-wallace syndrome|diabetes-deafness syndrome, maternally transmitted|mitochondrial diabetes|noninsulin-dependent diabetes mellitus with deafness|niddm with deafness|diabetes mellitus, type ii, with deafness|midd

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about MATERNALLY-INHERITED DIABETES AND DEAFNESS

Refsum disease is an autosomal recessive inborn error of lipid metabolism classically characterized by a tetrad of clinical abnormalities: retinitis pigmentosa, peripheral neuropathy, cerebellar ataxia, and elevated protein levels in the cerebrospinal fluid (CSF) without an increase in the number of cells. However, not all patients show all these features. All patients have accumulation of an unusual branched-chain fatty acid, phytanic acid, in blood and tissues. Other variable features include cardiac dysfunction, nerve deafness, ichthyosis, and multiple epiphyseal dysplasia (review by Skjeldal et al., 1987).Increased levels of phytanic acid can also be found in peroxisomal biogenesis disorders; see Zellweger syndrome (see {214100}) (Skjeldal et al., 1987).Infantile Refsum disease (see PBD1B, {601539}) is a distinct disorder with a different phenotype and genetic basis.A phenotype clinically indistinguishable from that of classic Refsum disease (PBD9B ), but with a different biochemical profile, can be caused by mutation in the gene encoding peroxin-7 (PEX7 ) on chromosome 6q.

REFSUM DISEASE, CLASSIC Is also known as heredopathia atactica polyneuritiformis|hmsn iv|phytanic acid oxidase deficiency|hereditary motor and sensory neuropathy iv|hmsn4|refsum disease, adult, 1

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about REFSUM DISEASE, CLASSIC

Top 5 symptoms//phenotypes associated to Congestive heart failure and Macular degeneration

Symptoms // Phenotype % cases
Cardiomyopathy Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Cataract Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Global developmental delay Diabetes mellitus Sensorineural hearing impairment Visual impairment Hypertension Muscle weakness Feeding difficulties Retinal degeneration Growth delay Type II diabetes mellitus Rod-cone dystrophy Ptosis Peripheral neuropathy Failure to thrive Blindness Nystagmus Myalgia Hypertrophic cardiomyopathy Hypothyroidism Dysarthria Dilatation Renal insufficiency Abnormality of retinal pigmentation Short stature Retinopathy Intellectual disability Fatigue Optic atrophy Respiratory distress Arrhythmia Motor delay Pain Atherosclerosis Myopathy Visual loss Pigmentary retinopathy Ophthalmoplegia Cognitive impairment EEG abnormality Muscular hypotonia Recurrent respiratory infections Hepatomegaly Skeletal muscle atrophy Respiratory failure Respiratory insufficiency Gastroesophageal reflux Acidosis Dyspnea Cardiomegaly Delayed speech and language development Ventricular hypertrophy Dystonia Glomerulopathy Progressive sensorineural hearing impairment Aplasia/Hypoplasia of the cerebellum Involuntary movements Nyctalopia Proteinuria Constipation Depressivity Left ventricular hypertrophy Abnormality of the dentition Dilated cardiomyopathy Hypertonia Posterior subcapsular cataract Polyuria Type I diabetes mellitus Arteriosclerosis Decreased body weight Hypogonadism Behavioral abnormality Nephropathy Hyporeflexia Abnormal retinal morphology Abnormality of the cardiovascular system Photophobia Sensory impairment Hyperreflexia Dysphagia Scoliosis Stroke Cerebellar atrophy

Rare Symptoms - Less than 30% cases

Ophthalmoparesis Insulin resistance Scarring Generalized tonic-clonic seizures Hypopigmentation of the skin Coma Multiple lipomas Decreased testicular size Abnormality of the liver Neonatal hypotonia Carious teeth Hypergonadotropic hypogonadism Jaundice Autism Weight loss Gait ataxia Abdominal pain Abnormal renal physiology Myoclonus Cone/cone-rod dystrophy Hyperkeratosis Dementia Hirsutism Atrioventricular block Emphysema Dysphasia Memory impairment Chorioretinal atrophy Wolff-Parkinson-White syndrome Stroke-like episode Polyneuropathy Nausea Malabsorption Abnormal chorioretinal morphology Vertigo Ichthyosis Confusion Pruritus Alopecia Osteoporosis Delayed puberty Lipodystrophy Mental deterioration Reduced visual acuity Cerebral cortical atrophy Hyperglycemia Renal tubular dysfunction Ventriculomegaly Constriction of peripheral visual field Cirrhosis Severe sensorineural hearing impairment Pneumonia Cerebellar hypoplasia Abnormality of immune system physiology Hemeralopia Feeding difficulties in infancy Postnatal growth retardation Respiratory tract infection Bronchitis Congenital cataract Polymicrogyria Sleep disturbance Increased body weight Spasticity Hypertelorism Polydipsia Short neck High palate Dysmetria Encephalopathy Telangiectasia of the skin Polyphagia Kyphosis Psychosis Vomiting Tremor Microcephaly Anemia Subcapsular cataract Alopecia of scalp Abnormal macular morphology Abnormality of the cerebellar vermis Retinal atrophy Abnormality of the optic disc Abnormality of the kidney Specific learning disability Joint stiffness EMG abnormality External ophthalmoplegia Areflexia Nephrocalcinosis Headache Splenomegaly Generalized hirsutism Ischemic stroke Hypogonadotrophic hypogonadism Gait disturbance Fever Abnormality of the thorax Acne Pancreatitis Hemiplegia/hemiparesis Generalized hypotonia Myocardial infarction Ragged-red muscle fibers Tubulointerstitial nephritis Goiter Hyperkinesis Bilateral ptosis Subcutaneous calcification Renovascular hypertension Cerebral atrophy Bundle branch block Vestibular dysfunction Restrictive cardiomyopathy Lack of skin elasticity Peripheral arterial stenosis Abnormality of the cerebral vasculature Elevated serum creatine phosphokinase Decreased liver function Bilateral sensorineural hearing impairment Urinary incontinence Cerebral calcification Sudden cardiac death Anorexia Conductive hearing impairment Limb muscle weakness Difficulty walking Retinal pigment epithelial atrophy Gastrointestinal hemorrhage Aspiration Pulmonary arterial hypertension Postural instability Dry skin Atopic dermatitis Hashimoto thyroiditis Infertility Abnormality of visual evoked potentials Writer's cramp Lymphadenopathy Pulmonic stenosis Hypotrichosis Neonatal hypoglycemia Hypermetropia Drowsiness Vitiligo Cough Persistence of primary teeth Xerostomia Sparse hair Autistic behavior Pallor Irritability Heart block Elevated hepatic transaminase Deeply set eye Hepatosplenomegaly Stage 5 chronic kidney disease Hepatic failure Distal arthrogryposis Asthma Hypertriglyceridemia Epidermal acanthosis Optic disc pallor Hepatitis Cyanosis Progressive visual loss Otitis media Dysesthesia Growth hormone deficiency Round face Vesicoureteral reflux Basal ganglia calcification Tachycardia Abdominal distention Muscle fiber atrophy Ascites Hyperthyroidism Rhabdomyolysis Thyroiditis Hepatic steatosis Retinal dystrophy Primary adrenal insufficiency Kyphoscoliosis Pulmonary embolism Pes planus Speech apraxia Polydactyly Progressive night blindness Episodic vomiting Gastroparesis Abnormality of the renal tubule Amaurosis fugax Hemianopia Reduced consciousness/confusion Gait imbalance Ileus Auditory hallucinations Cochlear degeneration Proximal tubulopathy Cochlear malformation Cerebral ischemia Edema of the dorsum of hands Abnormal nerve conduction velocity Abnormal mitochondrial morphology Paronychia Anterior hypopituitarism Spotty hypopigmentation Abnormality of peripheral nerve conduction Crohn's disease Seborrheic dermatitis Left ventricular failure Psychotic episodes Renal Fanconi syndrome Abnormal mitochondrial shape Increased CSF lactate Hypoparathyroidism Episodic quadriplegia Hyperhidrosis Mitochondrial myopathy Tubulointerstitial abnormality Patent ductus arteriosus Clinodactyly Obesity Hyperoxaluria Strabismus Prominent ear helix Morphological abnormality of the inner ear Morphological abnormality of the vestibule of the inner ear Bilateral intracranial calcifications Abnormality of acid-base homeostasis Visual hallucinations Progressive external ophthalmoplegia Homonymous hemianopia Transient ischemic attack Psychomotor deterioration Delusions Cardiorespiratory arrest Facial diplegia Aortic dissection Paralytic ileus Motor polyneuropathy Leber optic atrophy Spontaneous hematomas Abnormal cochlea morphology Epiphyseal stippling Recurrent otitis media Increased circulating androgen level Hypoplastic male external genitalia Hepatic necrosis Chronic hepatic failure Facial hirsutism ST segment depression Multifocal atrial tachycardia Childhood-onset truncal obesity High-frequency sensorineural hearing impairment Exudative retinopathy Urethral obstruction Nonproductive cough Abnormal adipose tissue morphology Chronic active hepatitis Hyperostosis frontalis interna Increased CSF protein Receptive language delay Granular macular appearance Thickened ears Abnormality of the pituitary gland Squared iliac bones Unilateral breast hypoplasia Abnormal spermatogenesis Vertical nystagmus Increased total bilirubin Frontal balding Hematemesis Melena First degree atrioventricular block Decreased glomerular filtration rate Multiple epiphyseal dysplasia Chronic infection Albuminuria Abnormality of the urethra Lumbar scoliosis Abnormality of dental color Epigastric pain Urethral stricture Impaired temperature sensation Female hypogonadism Abnormal muscle tone Dilatation of the bladder Glue ear Multinodular goiter Macular dystrophy Scanning speech Refractory anemia Decreased serum ceruloplasmin Elevated hepatic iron concentration Decreased serum iron Aceruloplasminemia Unsteady gait Pancytopenia Abnormality of lipid metabolism Blepharospasm Left bundle branch block Wide nasal bridge Pes cavus Renal cyst Leukodystrophy Sensorimotor neuropathy Progressive hearing impairment Anosmia Cogwheel rigidity Increased serum ferritin Recurrent cystitis Abnormality of the femoral head Widely-spaced incisors Abnormal retinal artery morphology Precocious puberty in females EEG with occipital slowing Abnormality of prothrombin Abnormality of renal calyx morphology Localized hirsutism Vitreous haze Rigidity Muscle fibrillation Poor speech Neurodegeneration Parkinsonism Chorea Abnormality of extrapyramidal motor function Torticollis Cerebral palsy Slurred speech Bull's eye maculopathy Abnormality of female external genitalia Recurrent urinary tract infections Pulmonary fibrosis Nephritis Chronic otitis media Epiphyseal dysplasia Obsessive-compulsive behavior Impaired vibratory sensation Short fourth metatarsal Diabetes insipidus Glucose intolerance Hydroureter Hyperinsulinemia Urinary urgency Truncal obesity Pericardial effusion Short finger Agenesis of permanent teeth Glycosuria Hyperuricemia Increased number of teeth Portal hypertension Precocious puberty Thoracic scoliosis Horizontal nystagmus Thickened skin Chronic diarrhea Hepatic fibrosis Hyperpigmentation of the skin Sinusitis Gynecomastia Short toe Recurrent pneumonia Absence seizures Elevated alkaline phosphatase Accelerated skeletal maturation Acanthosis nigricans Hyperlipidemia Hypercholesterolemia Tachypnea Polycystic ovaries Abnormality of the hand Cholelithiasis Pericarditis Autoimmune thrombocytopenia Hepatic encephalopathy Testicular atrophy High-frequency hearing impairment Ovarian cyst Decreased HDL cholesterol concentration Menstrual irregularities Abnormal renal morphology Endocardial fibroelastosis Disinhibition Abnormal left ventricle morphology Tubulointerstitial fibrosis Chronic obstructive pulmonary disease Elevated C-reactive protein level Urinary retention Poor fine motor coordination Pyelonephritis Chills Acute pancreatitis Achromatopsia Urethral stenosis Esophageal varix Chronic fatigue Hypoventilation Pendular nystagmus Insulin-resistant diabetes mellitus Peripheral visual field loss Hyperventilation Poor coordination Oligomenorrhea Broad foot Ketoacidosis Gingivitis Attenuation of retinal blood vessels Myocardial fibrosis Right ventricular hypertrophy Miosis Elevated serum creatinine Acute hepatic failure Recurrent bronchitis Tubular atrophy Myocarditis Oligospermia Male hypogonadism Hyperostosis Generalized myoclonic seizures Vertebral fusion Spontaneous abortion Intrauterine growth retardation Skin ulcer Abnormality of the hair Narrow face Increased bone mineral density Hoarse voice Myopia Sparse scalp hair Melanoma Breast carcinoma Laryngomalacia Sarcoma Dermal atrophy Abnormality of the voice Edema Convex nasal ridge Rocker bottom foot Papule Abnormal CNS myelination Firm muscles Bruising susceptibility Neoplasm Abnormality of skin pigmentation Joint hyperflexibility Small for gestational age Chest pain Skin rash Micropenis Proptosis Carcinoma Leukemia Abnormality of cardiovascular system morphology Small hand Myelodysplasia Squamous cell carcinoma Abdominal wall muscle weakness Chorioretinitis Slender build White forelock Thyroid carcinoma Enlarged joints Narrow nasal ridge Cutaneous melanoma Soft tissue sarcoma Pili torti Abnormal hair whorl Poliosis Neoplasm of the small intestine Gastrointestinal carcinoma Premature arteriosclerosis Neoplasm of the oral cavity Aplasia/Hypoplasia of the testes Abnormality of the testis Chondrocalcinosis High pitched voice Secondary amenorrhea Premature graying of hair Decreased fertility Lipoatrophy Aplasia/Hypoplasia of the skin Scleroderma Myeloid leukemia Ovarian neoplasm Osteosarcoma Prematurely aged appearance Premature loss of teeth Neoplasm of the lung Pulmonary artery stenosis Progeroid facial appearance Meningioma Renal neoplasm Shortened PR interval Increased muscle fatiguability Abnormal fundus morphology Accelerated atherosclerosis Retinal hemorrhage Intermittent claudication Angioid streaks of the fundus Metamorphopsia Abnormality of connective tissue Civatte bodies Vascular calcification Choroidal neovascularization Arterial calcification Hyperkeratotic papule Localized skin lesion Generalized arterial calcification Medial calcification of large arteries Peripapillary chorioretinal atrophy Abnormal endocardium morphology Ectopic calcification Subretinal fluid Mitral stenosis Striae distensae Severe vision loss Severe intrauterine growth retardation Abnormality of the mouth Thickened nuchal skin fold Drusen Angina pectoris Pulmonary insufficiency Redundant neck skin Abnormal thrombocyte morphology Abnormal mitral valve morphology Pulmonary edema Arterial stenosis Hypermelanotic macule Excessive wrinkled skin Peau d'orange Erythematous papule Diaphragmatic paralysis Scapular winging Paralysis Muscular dystrophy Generalized muscle weakness Macroglossia Peripheral demyelination Progressive muscle weakness Respiratory insufficiency due to muscle weakness Proximal muscle weakness Delayed gross motor development Nasal speech Exertional dyspnea Difficulty running Dilatation of the cerebral artery Progressive proximal muscle weakness Pelvic girdle muscle weakness Abnormality of the skin Hypoglycemia Premature occlusive vascular stenosis Intracranial hemorrhage Medial calcification of medium-sized arteries Abnormal atrioventricular valve morphology Medial calcification of small arteries Coronary artery atherosclerosis Cutis marmorata Tricuspid regurgitation Redundant skin Osteopenia Hyperextensible skin Cutis laxa Abnormality of metabolism/homeostasis Subcutaneous nodule Mitral regurgitation Blue sclerae Mitral valve prolapse Acral lentiginous melanoma Micrognathia Prolonged QT interval Muscle cramps Arthrogryposis multiplex congenita Nausea and vomiting Anal atresia Paresthesia Peripheral axonal neuropathy Lactic acidosis Abnormal cerebellum morphology Neurological speech impairment Migraine Increased serum lactate Hip dysplasia Amenorrhea Generalized-onset seizure Nephrotic syndrome Lethargy Attention deficit hyperactivity disorder Atrial fibrillation White matter neuronal heterotopia Decreased T cell activation Aplasia/Hypoplasia of the macula Ureteral atresia Immunoglobulin IgG2 deficiency Penile hypospadias Severe T-cell immunodeficiency Acute bronchitis Erythema Diarrhea Delayed skeletal maturation Anxiety Apnea Developmental regression Abnormality of the pinna Protruding ear Status epilepticus Hemiparesis Abnormal immunoglobulin level Bifid scrotum Hemiplegia Aortic aneurysm Abnormality of mitochondrial metabolism Hyponatremia Personality changes Intestinal obstruction Mask-like facies Decreased nerve conduction velocity Focal segmental glomerulosclerosis Abnormality of neuronal migration Overlapping toe Adrenal insufficiency Aphasia Hyperkalemia Visual field defect Hypercalciuria Cachexia Hypertrichosis Truncal ataxia Babinski sign Gingival overgrowth Hallucinations Cerebral visual impairment Clonus Cardiac arrest Exercise intolerance Chronic kidney disease Purpura Reduced tendon reflexes Hypopigmented skin patches Mutism Schizophrenia Easy fatigability Growth abnormality Cutaneous anergy Frontoparietal polymicrogyria Abnormal facial shape Delayed myelination Wide nose Thick vermilion border High, narrow palate Neutropenia Triangular face Sepsis Decreased antibody level in blood Cleft upper lip Narrow forehead Hypotelorism Cerebellar vermis hypoplasia Progressive neurologic deterioration Open mouth Heterotopia Progressive microcephaly Pulmonary hypoplasia Dysdiadochokinesis Recurrent bacterial infections Orofacial dyskinesia Cleft palate Low-set ears Depressed nasal bridge Epicanthus Restless legs Anteverted nares Long philtrum Severe global developmental delay Immunodeficiency Recurrent infections Hypospadias Agenesis of corpus callosum Coarse facial features Muscular hypotonia of the trunk Cleft lip Lymphopenia Leukopenia Schizencephaly Recurrent fungal infections Chronic mucocutaneous candidiasis Abnormal cortical gyration Recurrent viral infections Hypoplasia of the thymus Cellular immunodeficiency Hypopigmentation of the fundus Abnormal posturing Fair hair Granulocytopenia Pontocerebellar atrophy Abnormality of the mandible Decreased proportion of CD4-positive T cells Recurrent aspiration pneumonia Abnormality of the thymus Muscle flaccidity Hypoplasia of the pons Ocular albinism Aplasia/Hypoplasia of the corpus callosum Neurodevelopmental delay Infantile muscular hypotonia Adducted thumb Poor suck Congenital sensorineural hearing impairment Albinism Combined immunodeficiency Macular atrophy Depressed nasal tip Centrally nucleated skeletal muscle fibers Renal tubular acidosis Optic neuropathy Hypopigmentation of hair IgG deficiency Aspiration pneumonia Severe failure to thrive Elevated levels of phytanic acid


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