Cognitive impairment, and Sinusitis

Diseases related with Cognitive impairment and Sinusitis

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


Top matches:

Low match RETINAL VASCULOPATHY WITH CEREBRAL LEUKOENCEPHALOPATHY AND SYSTEMIC MANIFESTATIONS


Retinal vasculopathy and cerebral leukodystrophy (RVCL) is an inherited group of small vessel diseases comprised of cerebroretinal vasculopathy (CRV), hereditary vascular retinopathy (HRV) and hereditary endotheliopathy with retinopathy, nephropathy and stroke (HERNS; see these terms); all exhibiting progressive visual impairment as well as variable cerebral dysfunction.

RETINAL VASCULOPATHY WITH CEREBRAL LEUKOENCEPHALOPATHY AND SYSTEMIC MANIFESTATIONS Is also known as retinopathy, vascular, with cerebral and renal involvement and raynaud and migraine phenomena|cerebroretinal vasculopathy, hereditary|crv|retinal vasculopathy and cerebral leukoencephalopathy|rvcl|rvcl-s

Related symptoms:

  • Seizures
  • Ataxia
  • Neoplasm
  • Pain
  • Visual impairment


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about RETINAL VASCULOPATHY WITH CEREBRAL LEUKOENCEPHALOPATHY AND SYSTEMIC MANIFESTATIONS

Low match FRAGILE X SYNDROME


Fragile X syndrome (FXS) is a rare genetic disease associated with mild to severe intellectual deficit that may be associated with behavioral disorders and characteristic physical features.

FRAGILE X SYNDROME Is also known as marker x syndrome|fraxa syndrome|martin-bell syndrome|mental retardation, x-linked, associated with marxq28|fragile x mental retardation syndrome|frax syndrome|fxs|x-linked mental retardation and macroorchidism

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about FRAGILE X SYNDROME

Low match TIMOTHY SYNDROME


Timothy syndrome is a multi-system disorder characterized by cardiac, hand, facial and neurodevelopmental features that include QT prolongation, webbed fingers and toes, flattened nasal bridge, low-set ears, small upper jaw, thin upper lip, and characteristic features of autism or autistic spectrum disorders.

TIMOTHY SYNDROME Is also known as lqt8|long qt syndrome 8|long qt syndrome with syndactyly|long qt syndrome-syndactyly syndrome|long qt syndrome type 8

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about TIMOTHY SYNDROME

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Other less relevant matches:

Low match X-LINKED AGAMMAGLOBULINEMIA


X-linked agammaglobulinemia (XLA) is a clinically variable form of isolated agammaglobulinemia, an inherited immunodeficiency disorder (see this term), and is characterized in affected males by recurrent bacterial infections during infancy.

X-LINKED AGAMMAGLOBULINEMIA Is also known as imd1|bruton-type agammaglobulinemia|bruton type agammaglobulinemia|agammaglobulinemia, x-linked, type 1|immunodeficiency 1|btk-deficiency|agmx1

Related symptoms:

  • Short stature
  • Hearing impairment
  • Ataxia
  • Neoplasm
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED AGAMMAGLOBULINEMIA

Low match KEUTEL SYNDROME


Keutel syndrome is characterised by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism.

KEUTEL SYNDROME Is also known as pulmonic stenosis-brachytelephalangism-calcification of cartilages syndrome|pulmonic stenosis, brachytelephalangism, and calcification of cartilages

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about KEUTEL SYNDROME

Low match NIJMEGEN BREAKAGE SYNDROME


Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections.

NIJMEGEN BREAKAGE SYNDROME Is also known as microcephaly-immunodeficiency-lymphoreticuloma syndrome|ataxia-telangiectasia variant v1|microcephaly with normal intelligence, immunodeficiency, and lymphoreticular malignancies|at-v1|berlin breakage syndrome|ataxia-telangiectasia, variant 1|seemanova sy

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Ataxia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about NIJMEGEN BREAKAGE SYNDROME

Low match ATAXIA-TELANGIECTASIA


Ataxia-telangiectasia is the association of severe combined immunodeficiency (affecting mainly the humoral immune response) with progressive cerebellar ataxia. It is characterised by neurological signs, telangiectasias, increased susceptibility to infections and a higher risk of cancer.

ATAXIA-TELANGIECTASIA Is also known as at1|louis-bar syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about ATAXIA-TELANGIECTASIA

Low match HURLER-SCHEIE SYNDROME


Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1; see this term) between the two extremes Hurler syndrome and Scheie syndrome (see these terms); it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development.

HURLER-SCHEIE SYNDROME Is also known as mucopolysaccharidosis type 1h/s|mucopolysaccharidosis type ih/s|mpsih/s|mps1-hs|mps1h/s

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about HURLER-SCHEIE SYNDROME

Low 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

Low match PRIMARY CILIARY DYSKINESIA-RETINITIS PIGMENTOSA SYNDROME


Primary ciliary dyskinesia - retinitis pigmentosa is an X-linked ciliary dysfunction of both respiratory epithelium and photoreceptors of the retina leading to ocular disorders (mild night blindness, constriction of the visual field, and scotopic and photopic ERG responses reduced to 30-60%) associated with primary ciliary dyskinesia (see this term) manifestations (chronic bronchorrhea with bronchoectasis and chronic sinusitis) and sensorineural hearing loss.

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Renal insufficiency
  • Recurrent respiratory infections
  • Rod-cone dystrophy


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about PRIMARY CILIARY DYSKINESIA-RETINITIS PIGMENTOSA SYNDROME

Top 5 symptoms//phenotypes associated to Cognitive impairment and Sinusitis

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Otitis media Common - Between 50% and 80% cases
Recurrent respiratory infections Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Cognitive impairment and Sinusitis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Pneumonia Recurrent bronchitis Ataxia Hearing impairment Global developmental delay Recurrent otitis media Chronic sinusitis Chronic otitis media Respiratory tract infection Immunodeficiency Depressivity Dilatation Telangiectasia Recurrent pneumonia Scoliosis Neoplasm Sensorineural hearing impairment Bronchitis Depressed nasal bridge Abnormal facial shape Strabismus Bronchiectasis Respiratory insufficiency Short neck Abnormality of the dentition Encephalopathy Constipation Autism Macrotia Gastroesophageal reflux Rod-cone dystrophy Carious teeth Hepatitis Infertility Cardiomegaly Pulmonary arterial hypertension Autistic behavior Respiratory failure Round face Failure to thrive Diarrhea Alopecia Lymphopenia Chronic diarrhea Recurrent urinary tract infections Asthma Recurrent infections Progressive visual loss Visual impairment Retinopathy Behavioral abnormality Elevated hepatic transaminase

Rare Symptoms - Less than 30% cases


Abdominal pain Hepatosplenomegaly Kyphoscoliosis Hyperkeratosis Anemia Delayed speech and language development Fatigue Kyphosis Thrombocytopenia Splenomegaly Weight loss Congestive heart failure Decreased antibody level in blood Cardiomyopathy Hepatomegaly Motor delay Abnormality of dental color Cafe-au-lait spot Frontal balding Abnormality of retinal pigmentation Hirsutism Patent ductus arteriosus Retinal degeneration Hypermetropia Hypothyroidism Thickened skin High-frequency hearing impairment Nyctalopia Female hypogonadism Microdontia Generalized hirsutism Conductive hearing impairment Abnormality of the face Hypocalcemia Abnormality of dental enamel Obsessive-compulsive behavior Multiple joint contractures Mixed hearing impairment Cor pulmonale Abnormality of the hair Nystagmus Myoclonus Dystonia Gait disturbance Microcephaly Peripheral neuropathy Growth delay Micrognathia Muscle weakness Skeletal muscle atrophy Diabetes mellitus Abnormality of chromosome stability B-cell lymphoma Retrognathia Leukemia Lymphoma Acute lymphoblastic leukemia Renal insufficiency Combined immunodeficiency Emphysema Deep philtrum Myelopathy Hydronephrosis Peripheral visual field loss Abnormal spermatogenesis Abnormality of the tonsils Hypertension Optic atrophy Intellectual disability, mild Recurrent lower respiratory tract infections Glucose intolerance Carcinoma Abnormality of the liver Polycystic ovaries Abnormality of the optic disc Hypotrichosis Pulmonic stenosis Abnormal vertebral morphology Wide nose Type II diabetes mellitus Sloping forehead Delayed puberty Chronic obstructive pulmonary disease Sleep disturbance Hyperactivity Intellectual disability, moderate Midface retrusion Obesity Mental deterioration Lower limb muscle weakness Attention deficit hyperactivity disorder Hyperpigmentation of the skin Cirrhosis Nephropathy Memory impairment Proteinuria Anxiety Premature ovarian insufficiency Pes planus Coarse facial features Apraxia Abnormality of neuronal migration Polyphagia Leukodystrophy Long face Neurological speech impairment Joint hypermobility Hypertelorism Feeding difficulties Dysarthria Dementia Macrocephaly Headache Muscular hypotonia Ventricular septal defect Pain Visual loss Myopathy Generalized hypotonia Thick vermilion border Glomerulopathy Dilatation of the bladder Glue ear Short tubular bones of the hand Cervical instability Small abnormally formed scapulae Unilateral breast hypoplasia Abnormality of lysosomal metabolism Abnormality of the breast Frontal hirsutism Dilated third ventricle Recurrent cystitis Widely-spaced incisors Optic nerve compression Progressive flexion contractures Exercise-induced muscle stiffness Abnormal retinal artery morphology Thickened ribs Limited shoulder movement Precocious puberty in females Posterior scalloping of vertebral bodies Abnormality of mucopolysaccharide metabolism Abnormality of the acetabulum Dermatan sulfate excretion in urine Thickened ears Endocardial fibroelastosis Abnormality of the skull base Abnormal adipose tissue morphology Chronic active hepatitis Clinodactyly Hyporeflexia Hyperhidrosis Hypogonadism Polydactyly Dyspnea Jaundice Vomiting Photophobia Nonproductive cough Deeply set eye Myalgia Abnormality of the kidney Irritability Postnatal growth retardation Hyperostosis frontalis interna Blindness Abnormality of the sella turcica Urinary glycosaminoglycan excretion Abnormal metaphyseal trabeculation Abnormality of femoral epiphysis Anterior scalloping of vertebral bodies Abnormality of cranial sutures Abnormality of the glenoid fossa Abnormality of the lumbar spine Abnormality of glycosaminoglycan metabolism Widely patent coronal suture Respiratory distress Increased size of nasopharyngeal adenoids Contractures of the joints of the upper limbs Abnormality of the styloid process of ulna Granular macular appearance Abnormality of the humeral epiphysis Cataract Receptive language delay EEG with occipital slowing Localized hirsutism Delayed menarche Abnormality of dental morphology Easy fatigability Coarse hair Back pain Ciliary dyskinesia Recurrent upper respiratory tract infections Heart murmur Dyskinesia Toe walking Arnold-Chiari malformation Restrictive ventilatory defect Exertional dyspnea Abnormal heart valve morphology Arthropathy Hyperactive deep tendon reflexes Spinal canal stenosis Rhinitis Increased intracranial pressure Atelectasis Confusion Aortic valve stenosis Immotile cilia Hip dysplasia Abnormality of the ribs Lumbar hyperlordosis Abnormal form of the vertebral bodies Lower limb spasticity Recurrent ear infections Short ribs Abnormality of the metacarpal bones Elbow flexion contracture Congenital hip dislocation Hypoxemia Knee flexion contracture Coxa valga Opacification of the corneal stroma Widely spaced teeth Protuberant abdomen Blepharitis Hernia of the abdominal wall Aortic valve calcification Platybasia Wide cranial sutures Abnormal nerve conduction velocity Peripheral edema Corneal crystals Vitreous haze Abnormality of the radius Exudative retinopathy Abnormal diaphysis morphology Abnormality of renal calyx morphology Abnormality of the gingiva Hip subluxation J-shaped sella turcica Mitral valve calcification Abnormality of prothrombin Heparan sulfate excretion in urine Carpal bone hypoplasia Abnormal cornea morphology Papilledema Hydrocele testis Obstructive sleep apnea Spinal cord compression Diastasis recti Hypoplastic iliac wing Abnormality of the ulna Dysostosis multiplex Tracheal stenosis Communicating hydrocephalus Nasal obstruction Sparse axillary hair Broad ribs Sparse pubic hair Abnormality of the femoral head Dilation of lateral ventricles Flared iliac wings Sagittal craniosynostosis Shield chest Pallor Increased circulating androgen level Sparse hair Hepatic encephalopathy Vertical nystagmus Bull's eye maculopathy Multinodular goiter Abnormality of female external genitalia Progressive sensorineural hearing impairment Glycosuria Hyperuricemia Urethral stenosis Hematemesis Increased number of teeth Subcapsular cataract Pericarditis Thoracic scoliosis Autoimmune thrombocytopenia Severe sensorineural hearing impairment Hypoventilation Increased total bilirubin Agenesis of permanent teeth Achromatopsia Urinary urgency Abnormal chorioretinal morphology Polyuria Pulmonary fibrosis Epigastric pain Lumbar scoliosis Hydroureter Abnormality of the urethra Truncal obesity Melena Abnormal retinal morphology Pericardial effusion Chorioretinal atrophy Short finger Chronic infection Decreased glomerular filtration rate First degree atrioventricular block Insulin-resistant diabetes mellitus Acute pancreatitis Hyperglycemia Esophageal varix Acute hepatic failure Tubular atrophy Myocarditis Oligospermia Male hypogonadism Myocardial fibrosis Chronic fatigue Restrictive cardiomyopathy Testicular atrophy Abnormal left ventricle morphology Abnormal renal physiology Ovarian cyst Disinhibition Retinal pigment epithelial atrophy Decreased HDL cholesterol concentration Menstrual irregularities Elevated serum creatinine Right ventricular hypertrophy Retinal atrophy Broad foot Chills Alopecia of scalp Hyperventilation Pyelonephritis Poor coordination Oligomenorrhea Posterior subcapsular cataract Ketoacidosis Tubulointerstitial fibrosis Gingivitis Poor fine motor coordination Urinary retention Pendular nystagmus Tubulointerstitial nephritis Attenuation of retinal blood vessels Arteriosclerosis Elevated C-reactive protein level Diabetes insipidus Hyperostosis Scarring Epidermal acanthosis Gastrointestinal hemorrhage Growth hormone deficiency Decreased testicular size Specific learning disability Cyanosis Pigmentary retinopathy Optic disc pallor Hypertriglyceridemia Vesicoureteral reflux Involuntary movements Facial hirsutism Left ventricular hypertrophy Anorexia Insulin resistance Decreased liver function Hepatic fibrosis Urinary incontinence Abdominal distention Gynecomastia Abnormal renal morphology Cough Dilated cardiomyopathy Generalized tonic-clonic seizures Ophthalmoplegia Dry skin Lymphadenopathy Stage 5 chronic kidney disease High-frequency sensorineural hearing impairment Ascites Childhood-onset truncal obesity Nausea Tachycardia Multifocal atrial tachycardia ST segment depression Hepatic failure Retinal dystrophy Hepatic steatosis Chronic hepatic failure Short toe Acne Lipodystrophy Goiter Abnormality of the hand Abnormal muscle tone Cholelithiasis Limitation of joint mobility Precocious puberty Hyperinsulinemia Impaired temperature sensation Tachypnea Urethral stricture Portal hypertension Polydipsia Nephritis Aplasia/Hypoplasia of the cerebellum Constriction of peripheral visual field Impaired vibratory sensation Cone/cone-rod dystrophy Hypercholesterolemia Hypergonadotropic hypogonadism Macular degeneration Hepatic necrosis Horizontal nystagmus Increased body weight Hypogonadotrophic hypogonadism Nephrocalcinosis Absence seizures Accelerated skeletal maturation Acanthosis nigricans Pancreatitis Hypoplastic male external genitalia Atherosclerosis Abnormality of the pituitary gland Urethral obstruction Squared iliac bones Renovascular hypertension Hyperlipidemia Albuminuria Elevated alkaline phosphatase Breast carcinoma Macroglossia Cutaneous finger syndactyly Optic nerve hypoplasia Atrioventricular block Patent foramen ovale Ventricular fibrillation 2-3 toe syndactyly Prolonged QT interval Protruding tongue Cutaneous syndactyly Amelogenesis imperfecta Hypothermia Perimembranous ventricular septal defect Torsade de pointes Cutaneous syndactyly of toes Biventricular hypertrophy T-wave alternans Ventricular arrhythmia Ventricular tachycardia Abnormal direction of ventricular apex Toe syndactyly Abnormal heart morphology Prominent forehead Thin upper lip vermilion Hypoglycemia Hypertrophic cardiomyopathy Abnormal cardiac septum morphology Hip dislocation Coma Cardiac arrest Hypoplasia of the maxilla Sudden cardiac death Syncope Esotropia Tetralogy of Fallot Hypoplasia of dental enamel Bradycardia Atrioventricular dissociation Fever Abnormality of cardiovascular system morphology Enteroviral hepatitis Pyoderma Recurrent cutaneous abscess formation Septic arthritis Epididymitis Prostatitis Lymph node hypoplasia Enteroviral dermatomyositis syndrome Malar flattening Abnormality of the lymphatic system Osteoporosis Short distal phalanx of finger Underdeveloped nasal alae Cerebral calcification Short phalanx of finger Short thumb Spontaneous abortion Thymoma Agammaglobulinemia Arthritis Meningitis Autoimmunity Skin rash Malabsorption Neutropenia Sepsis Abnormal lung morphology Skin ulcer Recurrent bacterial infections Glossoptosis Conjunctivitis Hypopigmented skin patches Recurrent skin infections Encephalitis Rheumatoid arthritis Osteomyelitis Cellulitis Arrhythmia Syndactyly Progressive hearing impairment Diminished ability to concentrate Limb pain Central nervous system degeneration Retinal exudate Vasculitis in the skin Focal white matter lesions Progressive forgetfulness Punctate vasculitis skin lesions Micronodular cirrhosis High palate Frontal bossing Atrial septal defect Intellectual disability, severe Absent speech Pectus excavatum Cerebral cortical atrophy Retinal hemorrhage Abnormality of the retinal vasculature High forehead Hemiparesis Hyperreflexia Edema Reduced visual acuity Stroke Hematuria Sensory impairment Migraine Vasculitis Brain neoplasm Leukoencephalopathy Elevated erythrocyte sedimentation rate Lower limb hyperreflexia Abnormality of the periventricular white matter Aseptic necrosis Raynaud phenomenon Macular edema Mandibular prognathia Neonatal hypotonia Dysphagia Finger joint hypermobility Mood swings Irregular dentition Shyness Abnormal head movements Periventricular gray matter heterotopia Oppositional defiant disorder Encopresis Macroorchidism, postpubertal Hyperextensibility of the finger joints Increased size of the mandible Folate-dependent fragile site at Xq28 Congenital macroorchidism Severe temper tantrums Low-set ears Wide nasal bridge Myopia Ascending tubular aorta aneurysm Enuresis Aggressive behavior Heterotopia Joint laxity Protruding ear Wide mouth Facial asymmetry Postural instability Overgrowth Mitral valve prolapse Narrow face Large forehead Hyperkinesis Relative macrocephaly Self-injurious behavior Large hands Broad palm Poor eye contact Macroorchidism Cutis laxa Growth abnormality Astigmatism Hepatocellular carcinoma Abnormality of the immune system Myeloid leukemia Prematurely aged appearance IgA deficiency Hodgkin lymphoma Hypopigmentation of hair Severe combined immunodeficiency Multiple cafe-au-lait spots Chromosome breakage Renal neoplasm Abnormality of the testis Lymphoproliferative disorder Spinocerebellar tract degeneration Absent Achilles reflex Hypoplasia of the thymus Telangiectasia of the skin Aplasia/Hypoplasia of the skin Cellular immunodeficiency Limb ataxia Polyneuropathy Abnormal cerebellum morphology Progressive cerebellar ataxia Chorea Pancytopenia Intention tremor Choreoathetosis Truncal ataxia Resting tremor Oculomotor apraxia Reduced tendon reflexes Cerebral palsy Slurred speech Spinal muscular atrophy Athetosis Premature graying of hair Chronic lymphatic leukemia Conjunctival telangiectasia Unsteady gait Camptodactyly of finger Proptosis Osteopenia Skeletal dysplasia Arthralgia Umbilical hernia Joint stiffness Craniosynostosis Abnormal pyramidal sign Severe short stature Pectus carinatum Corneal opacity Dolichocephaly Platyspondyly Synophrys Limb muscle weakness Genu valgum Glaucoma Pes cavus Chronic myelogenous leukemia Non-Hodgkin lymphoma Neoplasm of the breast Elevated alpha-fetoprotein Decreased proportion of CD4-positive T cells Chronic hepatitis Increased sensitivity to ionizing radiation Aplasia/Hypoplasia of the thymus Mucosal telangiectasiae Progressive spinal muscular atrophy Inguinal hernia Immunoglobulin IgG2 deficiency Decreased/absent ankle reflexes Interosseus muscle atrophy IgE deficiency Defective B cell differentiation Anteverted nares Hernia Distal amyotrophy Abnormality of movement Dermal atrophy Upslanted palpebral fissure Calcification of the auricular cartilage Cartilaginous ossification of nose Premature fusion of phalangeal epiphyses Cartilaginous ossification of larynx Cleft palate Intrauterine growth retardation Hypospadias Abnormality of the nervous system Soft, doughy skin Prominent nasal bridge Small for gestational age Anal atresia Cleft upper lip Hemolytic anemia Neurodegeneration Prominent nose Costal cartilage calcification Tracheal atresia Amenorrhea Thyroid carcinoma Nasal speech Aortic aneurysm Recurrent sinusitis Epiphyseal stippling Irregular vertebral endplates Pulmonary artery stenosis Short hallux Peripheral pulmonary artery stenosis Calcification of cartilage Shortening of all distal phalanges of the fingers Short nail Papillary thyroid carcinoma Abdominal aortic aneurysm Obstructive lung disease Pulmonary artery hypoplasia Arterial calcification Convex nasal ridge Cutaneous photosensitivity Abnormality of eye movement Mastoiditis Pollakisuria T-cell lymphoma Recurrent infection of the gastrointestinal tract Anorectal anomaly Penoscrotal hypospadias Dysgammaglobulinemia Malar prominence Progressive vitiligo Decrease in T cell count Spasticity Flexion contracture Tremor Cerebellar atrophy Gait ataxia Difficulty walking Distal muscle weakness B lymphocytopenia Abnormal hair quantity Primary amenorrhea Autoimmune hemolytic anemia Choanal atresia Low anterior hairline Cachexia Non-midline cleft lip Long nose Freckling Abnormality of the musculature Neuroblastoma Rhabdomyosarcoma Anal stenosis Hearing abnormality Acute leukemia Abnormal eyelid morphology Recurrent sinopulmonary infections Medulloblastoma Glioma Recurrent Haemophilus influenzae infections



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