Congestive heart failure, and Bulbous nose

Diseases related with Congestive heart failure and Bulbous nose

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


Top matches:

High match CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID; ARCL2D


Autosomal recessive cutis laxa type IID (ARCL2D) is characterized by generalized skin wrinkling with sparse subcutaneous fat and dysmorphic progeroid facial features. Most patients also exhibit severe hypotonia as well as cardiovascular and neurologic involvement (summary by Van Damme et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (OMIM ).

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Hypertelorism
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID; ARCL2D

High match CARNITINE PALMITOYL TRANSFERASE II DEFICIENCY, NEONATAL FORM


The neonatal form of carnitine palmitoyltransferase II (CPT II) deficiency (see this term), an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the lethal form of the disease which presents with multisystem failure.

CARNITINE PALMITOYL TRANSFERASE II DEFICIENCY, NEONATAL FORM Is also known as carnitine palmitoyl transferase deficiency type 2, lethal systemic form|carnitine palmitoyltransferase ii deficiency, neonatal|cpt2 deficiency, lethal neonatal|carnitine palmitoyl transferase ii deficiency, lethal systemic form|carnitine palmitoyltransfer

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Muscular hypotonia
  • Cataract


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CARNITINE PALMITOYL TRANSFERASE II DEFICIENCY, NEONATAL FORM

High match MEND SYNDROME


MEND syndrome is a rare, genetic, syndromic, sterol biosynthesis disorder affecting males characterized by skin manifestations, including collodion membrane, ichthyosis, and patchy hypopigmentary lesions, associated with severe neurological involvement (e.g. intellectual disability, delayed psychomotor development, seizures, hydrocephalus, cerebellar/corpus callosum hypoplasia, Dandy-Walker malformation, hypotonia) and craniofacial dysmorphism (large anterior fontanelle, telecanthus, hypertelorism, microphthalmia, prominent nasal bridge, low-set ears, micrognathia, cleft palate). 2,3 toe syndactyly, polydactyly, and kyphosis, as well as ophthalmic, cardiac and urogenital anomalies may also be associated.

MEND SYNDROME Is also known as male ebp disorder with neurologic defects|male ebp disorder with neurological defects

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MEND SYNDROME

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Other less relevant matches:

High match ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS


Andersen-Tawil syndrome is an autosomal dominant multisystem channelopathy characterized by periodic paralysis, ventricular arrhythmias, and distinctive dysmorphic facial or skeletal features. Hypoplastic kidney and valvular heart disease have also been reported. The disorder shows marked intrafamilial variability and incomplete penetrance (summary by Davies et al., 2005).

ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS Is also known as ats|andersen syndrome|long qt syndrome 7|periodic paralysis, potassium-sensitive cardiodysrhythmic type|lqt7|andersen-tawil syndrome

Related symptoms:

  • Seizures
  • Short stature
  • Microcephaly
  • Scoliosis
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS

High match ZIMMERMANN-LABAND SYNDROME


Zimmermann-Laband syndrome (ZLS) is a rare disorder characterized by gingival fibromatosis, coarse facial appearance, and absence or hypoplasia of nails or terminal phalanges of hands and feet.

ZIMMERMANN-LABAND SYNDROME Is also known as laband syndrome|gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome|fibromatosis, gingival, with abnormal fingers, fingernails, nose, and ears, and splenomegaly

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ZIMMERMANN-LABAND SYNDROME

High match SCHIMKE IMMUNO-OSSEOUS DYSPLASIA


Schimke immuno-osseous dysplasia (SIOD) is a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome.

SCHIMKE IMMUNO-OSSEOUS DYSPLASIA Is also known as immunoosseous dysplasia, schimke type|schimke syndrome|spondyloepiphyseal dysplasia-nephrotic syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SCHIMKE IMMUNO-OSSEOUS DYSPLASIA

High match FABRY DISEASE


Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations.

FABRY DISEASE Is also known as ceramide trihexosidase deficiency|hereditary dystopic lipidosis|fd|alpha-galactosidase a deficiency|diffuse angiokeratoma|gla deficiency|angiokeratoma corporis diffusum|anderson-fabry disease

Related symptoms:

  • Seizures
  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment
  • Pain


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about FABRY DISEASE

Medium match CARDIOFACIOCUTANEOUS SYNDROME


Cardiofaciocutaneous (CFC) syndrome is a RASopathy characterized by craniofacial dysmorphology, congenital heart disease, dermatological abnormalities (most commonly hyperkeratotic skin and sparse, curly hair), growth retardation and intellectual disability.

CARDIOFACIOCUTANEOUS SYNDROME Is also known as cfcs|cfc syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CARDIOFACIOCUTANEOUS SYNDROME

Low match GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, CHILDHOOD COMBINED HEPATIC AND MYOPATHIC FORM


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

Low match CHAR SYNDROME


Char syndrome is characterized by the triad of patent ductus arteriosus (PDA), facial dysmorphism and hand anomalies.

CHAR SYNDROME Is also known as patent ductus arteriosus with facial dysmorphism and abnormal fifth digits

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Hypertelorism
  • Strabismus
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CHAR SYNDROME

Top 5 symptoms//phenotypes associated to Congestive heart failure and Bulbous nose

Symptoms // Phenotype % cases
Seizures Very Common - Between 80% and 100% cases
Cardiomyopathy Common - Between 50% and 80% cases
Cataract Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Low-set ears Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Short stature

Uncommon Symptoms - Between 30% and 50% cases


High palate Hearing impairment Thick vermilion border Scoliosis Posteriorly rotated ears Wide nasal bridge Intellectual disability Hypertrophic cardiomyopathy Abnormal facial shape Downslanted palpebral fissures Myopia Failure to thrive Strabismus Hypertelorism Hepatomegaly Malar flattening Ventriculomegaly Global developmental delay Ventricular septal defect Depressed nasal bridge Coarse facial features Ventricular arrhythmia Thick eyebrow Growth delay Vomiting Cardiomegaly Abnormality of the kidney Premature birth High forehead Hyperlipidemia Midface retrusion Micrognathia Coarctation of aorta Pain Fever Abnormality of the dentition Depressivity Clinodactyly of the 5th finger Thin upper lip vermilion Broad forehead Toe syndactyly Hypertension Polyhydramnios Abnormal heart valve morphology Polydactyly Renal insufficiency Syndactyly Abnormality of the skeletal system Brachydactyly Arrhythmia Scarring Microcephaly Cryptorchidism Protruding ear Muscular hypotonia Anteverted nares Hernia Macrotia

Rare Symptoms - Less than 30% cases


Glomerulopathy Progressive hearing impairment Persistence of primary teeth Gastrointestinal dysmotility Abnormal mitral valve morphology Sensorineural hearing impairment Abnormal myocardium morphology Abnormality of the gastrointestinal tract Heart murmur Ventricular hypertrophy Lymphedema Myocardial infarction Abnormality of the cardiovascular system Abdominal distention Macrocephaly Intellectual disability, severe Splenomegaly Dilatation Patent ductus arteriosus Mandibular prognathia Abnormal aortic valve morphology Loss of consciousness Functional abnormality of the gastrointestinal tract Short nose Broad nasal tip Intellectual disability, mild Full cheeks Sleep disturbance Clinodactyly Delayed skeletal maturation Abnormality of cardiovascular system morphology Long philtrum Pulmonic stenosis Tachycardia High pitched voice Delayed eruption of teeth Syncope Ptosis Palpitations Decreased body weight Ventricular tachycardia Bicuspid aortic valve Growth abnormality Abnormality of the cerebral white matter Dyspnea Joint hypermobility Umbilical hernia Nephrotic syndrome Developmental regression Ataxia Stroke Corneal opacity Malabsorption Astigmatism Stage 5 chronic kidney disease Abnormality of skin pigmentation Nephropathy Edema Fine hair Constipation Abnormal lung morphology Reduced bone mineral density Coarse hair Optic atrophy Chronic kidney disease Glomerulosclerosis Melanocytic nevus Multiple lentigines Emphysema Multiple cafe-au-lait spots Behavioral abnormality Proteinuria Transient ischemic attack Carcinoma Pruritus Intellectual disability, profound Thick lower lip vermilion Thickened skin Hemangioma Large for gestational age Aortic root aneurysm Dystrophic fingernails Hyperextensibility of the finger joints Cavernous hemangioma Cognitive impairment Osteopenia Anemia Myalgia Short neck Hyperkeratosis Diarrhea Kyphosis Hyperhidrosis Immunodeficiency Headache Thrombocytopenia Hypothyroidism Muscle weakness Subvalvular aortic stenosis Feeding difficulties Respiratory insufficiency Flexion contracture Prominent nasal bridge Prominent forehead Abnormal cardiac septum morphology Hyperkalemia Enlarged kidney Low-set, posteriorly rotated ears Agenesis of corpus callosum Aggressive behavior Elevated serum creatine phosphokinase Deeply set eye Respiratory distress Sloping forehead Cerebral cortical atrophy Ichthyosis Narrow palpebral fissure Hypoplasia of the corpus callosum Cutis laxa Atrial septal defect Inguinal hernia Fatigue Pneumonia Hypertonia Hydrocephalus Cleft palate Biventricular hypertrophy Motor delay Bundle branch block Overfolded helix Delayed speech and language development Gliosis Triangular face Narrow forehead Hydronephrosis Feeding difficulties in infancy Hepatic failure Hepatic steatosis Elevated hepatic transaminase Hypoglycemia Polymicrogyria Long face Narrow palate Blepharophimosis 2-3 toe syndactyly Wide intermamillary distance Dysphagia Dysarthria Frontal bossing Retinal dystrophy Bruising susceptibility High, narrow palate Pectus carinatum Epicanthus Micropenis Neoplasm Talipes equinovarus Nystagmus Cornea verticillata Palmoplantar keratoderma Abnormal glomerular filtration rate Abnormality of the common coagulation pathway Increased glomerular filtration rate Increased carotid artery intimal medial thickness Abnormal ST segment Abnormal common carotid artery morphology Acroparesthesia Blindness Encephalopathy Falls EEG abnormality Sparse hair Erythema Respiratory tract infection Irritability Leukemia Abnormality of the eye Telecanthus Neurological speech impairment Heavy proteinuria Nail dystrophy Gastroesophageal reflux Cerebral atrophy Proptosis Dolichocephaly Hypermetropia Autism Alopecia Hypotrichosis Genu valgum Dry skin Abnormal heart morphology Pectus excavatum Peripheral axonal neuropathy Epiphyseal stippling Concentric hypertrophic cardiomyopathy Tenesmus T-wave inversion Abnormality of the nose Restrictive cardiomyopathy High-frequency hearing impairment Asymmetric septal hypertrophy Periorbital fullness Camptodactyly Miosis Chronic fatigue Abnormal renal physiology Chronic pain Tubulointerstitial fibrosis Abnormal thrombosis Abnormality of the renal tubule Abnormal cornea morphology Abnormality of femur morphology Myocardial fibrosis Supraventricular arrhythmia Supraventricular tachycardia Tubulointerstitial nephritis Elevated serum creatinine Tubular atrophy Sepsis Oligospermia Large earlobe Heat intolerance Sinus bradycardia Reduced ejection fraction Peripheral arterial stenosis Clubbing of fingers Angina pectoris Chronic obstructive pulmonary disease Achalasia Dysesthesia Conjunctival telangiectasia Left ventricular septal hypertrophy Unexplained fevers Shortened QT interval Angiokeratoma corporis diffusum Decreased lacrimation Shortened PR interval Coronary artery stenosis Mucosal telangiectasiae ST segment depression Impaired temperature sensation Retrognathia Impaired renal concentrating ability Abnormality of glycosphingolipid metabolism Abnormality of the forehead Hyperkeratotic papule Tortuosity of conjunctival vessels Hyposthenuria Obstructive lung disease Microalbuminuria Corneal crystals Primary hypothyroidism Abnormal endocardium morphology Abnormality of cardiovascular system physiology Decreased female libido Vascular skin abnormality Retinal vascular tortuosity Limb pain Angiokeratoma Abnormality of temperature regulation Nephrogenic diabetes insipidus Decreased glomerular filtration rate Vascular tortuosity Distal renal tubular acidosis Increased blood urea nitrogen Reduced sperm motility Abnormal bleeding Inflammatory abnormality of the skin Nevus Abnormality of the auditory canal Abnormality of the hairline Abnormal location of ears Puberty and gonadal disorders Morphological abnormality of the gastrointestinal tract Cutaneous T-cell lymphoma Inappropriate crying Multiple palmar creases Tongue thrusting Eyelid fasciculation Multiple plantar creases Oral aversion Skeletal muscle atrophy Myopathy Obesity Hyperkeratosis pilaris Laryngeal cleft Abnormality of the liver Endocarditis Thickened helices Abnormality of the pulmonary artery Excessive wrinkled skin Abnormality of hair texture Sparse or absent eyelashes Increased nuchal translucency Frontal balding Generalized ichthyosis Anterior creases of earlobe Abnormality of the optic disc Abnormal tricuspid valve morphology Patchy alopecia Optic nerve dysplasia Hypoplasia of the frontal lobes Proximal muscle weakness Cirrhosis Deep palmar crease Short middle phalanx of the 5th finger Hypodontia Depressed nasal ridge Finger clinodactyly Hand polydactyly Supernumerary nipple Prominent occiput Triangular mouth Everted lower lip vermilion Mesoaxial hand polydactyly No permanent dentition Parasomnia Muscular ventricular septal defect Symphalangism of the 5th finger Mesoaxial foot polydactyly Highly arched eyebrow Short philtrum Thin vermilion border Decreased liver function Distal amyotrophy Otitis media Epistaxis Hypertriglyceridemia Progressive muscle weakness Hepatic fibrosis Sinusitis Craniosynostosis Recurrent sinusitis Ketosis Recurrent corneal erosions Skeletal myopathy Micronodular cirrhosis Periportal fibrosis Ketotic hypoglycemia Slow-growing hair Abnormality of refraction Vesicoureteral reflux Poor suck Abnormality of the genitourinary system Delayed gross motor development Optic nerve hypoplasia Palmoplantar hyperkeratosis Abnormality of vision Relative macrocephaly Hyperextensible skin Aplasia/Hypoplasia of the corpus callosum Deep philtrum Redundant skin Brittle hair Failure to thrive in infancy Bilateral ptosis Sparse eyebrow Sleep apnea Abnormal palate morphology Pleural effusion Hemiparesis Intestinal malrotation Dental malocclusion Webbed neck Growth hormone deficiency Progressive visual loss Low posterior hairline Renal tubular dysfunction Oculomotor apraxia Open mouth Cafe-au-lait spot Hyperpigmentation of the skin Cerebral visual impairment Aspiration Abnormality of the nail Sparse eyelashes Scaling skin Ectropion Delayed CNS myelination Premature skin wrinkling Atopic dermatitis Alopecia of scalp Abnormal eyelash morphology Arnold-Chiari type I malformation Absent eyelashes Hypoplasia of the zygomatic bone Abnormality of the ulna Underdeveloped supraorbital ridges Short attention span Woolly hair Thick upper lip vermilion Abnormal hair pattern Abnormality of the optic nerve Abnormality of the testis Poor appetite Anal stenosis Cubitus valgus Aplasia/Hypoplasia of the eyebrow Chronic otitis media Obsessive-compulsive behavior Absent eyebrow Open bite Malnutrition Hydroureter Neurodevelopmental delay Submucous cleft hard palate Neurofibromas Infantile spasms Abnormality of the sternum Long palpebral fissure Biparietal narrowing Curly hair Generalized hyperpigmentation Edema of the lower limbs Clubbing Xerostomia Small nail Pericardial effusion Anonychia Abnormality of nervous system morphology Metaphyseal widening Spina bifida occulta Accelerated skeletal maturation Intellectual disability, progressive Hemivertebrae Generalized hirsutism Gingival overgrowth Dicarboxylic aciduria Nephrolithiasis Hypertrichosis Increased total bilirubin Macrovesicular hepatic steatosis Protruding tongue Congenital cataract Decreased plasma free carnitine Hepatic calcification Basal ganglia cysts Elevated long chain fatty acids Hepatosplenomegaly Wide mouth Synophrys Bilateral sensorineural hearing impairment Increased muscle lipid content Nonketotic hypoglycemia Short distal phalanx of finger Hirsutism Macroglossia Overgrowth Long toe Broad ribs Intracerebral periventricular calcifications Cerebral hemorrhage Autoimmunity Aciduria Hyperlordosis Oligohydramnios Renal dysplasia Elbow flexion contracture Multicystic kidney dysplasia Dementia Knee flexion contracture Recurrent infections Hyperammonemia Polycystic kidney dysplasia Hypoplastic toenails Cerebellar atrophy Intrauterine growth retardation Ureteral duplication Biliary atresia Thin bony cortex Colpocephaly Long penis Gingival fibromatosis Cystic renal dysplasia Hypoketotic hypoglycemia Generalized hypertrichosis Heart block Everted upper lip vermilion Aortic arch aneurysm Prominent eyelashes Short distal phalanx of toe Mesiodens Hypothermia Tapered toe Antenatal intracerebral hemorrhage Metabolic acidosis Esotropia Smooth philtrum Specific learning disability Short metacarpal Hypoplasia of the maxilla Short foot Small hand Inability to walk Short palm Wide nose Facial asymmetry Single transverse palmar crease Hypopigmentation of the skin Paralysis Joint laxity Gait ataxia Short palpebral fissure Long fingers Overlapping fingers Otosclerosis Long neck Spotty hypopigmentation Hypoplastic aortic arch Olivopontocerebellar hypoplasia Broad hallux Dandy-Walker malformation Ectopic kidney Overlapping toe Self-injurious behavior Sacral dimple Microretrognathia Aortic valve stenosis Renal hypoplasia Tetraparesis Decreased plasma total carnitine Scaphocephaly Elevated serum long-chain fatty acids Long-chain dicarboxylic aciduria Prominent U wave Prominent frontal sinuses Bidirectional ventricular ectopy Antegonial notching of mandible Periodic hyperkalemic paralysis Short mandibular rami Periodic hypokalemic paresis Clinodactyly of the 5th toe Toe clinodactyly Delayed eruption of permanent teeth Hyperactivity Periodic paralysis Hyperthyroidism Hypoplasia of dental enamel Short metatarsal Short phalanx of finger Cardiac arrest Short chin Scapular winging Muscular hypotonia of the trunk Oligodontia Hypokalemia Slender long bone Myotonia Preauricular pit Skeletal dysplasia Prolonged QT interval Agenesis of permanent teeth Long nose Coma Hip dislocation Abnormal EKG Sudden cardiac death Abnormal autonomic nervous system physiology Fasciculations Bradycardia Convex nasal ridge Hypohidrosis Anorexia Left ventricular hypertrophy Subcutaneous nodule Mitral regurgitation Atrial fibrillation Pointed chin Mitral valve prolapse Hypotension Urinary incontinence Chest pain Exercise intolerance Mask-like facies Arthritis Anxiety Abnormality of the nervous system Skin rash Cough Papule Focal impaired awareness seizure Muscle cramps Nausea and vomiting Delayed puberty Paresthesia Vertigo Nausea Hematuria Spontaneous abortion Aminoaciduria Arthralgia Diabetes insipidus Abnormality of lipid metabolism Wheezing Renal tubular acidosis Glycosuria Telangiectasia of the skin Celiac disease Orthostatic hypotension Progressive sensorineural hearing impairment Interstitial pulmonary abnormality Elevated erythrocyte sedimentation rate Coronary artery atherosclerosis Impotence Anhidrosis Polyuria Tricuspid regurgitation Purpura Easy fatigability Aortic regurgitation Abnormal intestine morphology Focal-onset seizure Corneal dystrophy Ischemic stroke Tinnitus Atrioventricular block Impaired vibratory sensation Prominent supraorbital ridges Abnormality of the hand Hemiplegia Polydipsia Personality changes Narrow nose Right bundle branch block Disproportionate tall stature Platyspondyly Abnormality of epiphysis morphology Focal segmental glomerulosclerosis Spondyloepiphyseal dysplasia Nephritis Glomerulonephritis Epiphyseal dysplasia Respiratory failure Encephalitis Acidosis Azoospermia Neonatal hypotonia Atherosclerosis Opacification of the corneal stroma Bone marrow hypocellularity Lymphopenia Heterotopia Hypermelanotic macule Migraine Tapered finger Abnormality of the foot Lethargy Neutropenia Abnormal cerebellum morphology Brain atrophy Dilated cardiomyopathy Abnormal form of the vertebral bodies Lymphoma Waddling gait Decreased testicular size Microdontia Lumbar hyperlordosis Apnea Combined immunodeficiency Steatorrhea Abdominal pain Anterior pituitary dysgenesis Increased thyroid-stimulating hormone level Encephalomalacia Abnormal T cell morphology Abnormal immunoglobulin level Moyamoya phenomenon Premature arteriosclerosis Nephrosclerosis Steroid-resistant nephrotic syndrome Lateral displacement of the femoral head Peripheral neuropathy Narrow naris Wide nasal base Cavum septum pellucidum Entropion Shallow acetabular fossae Hyperreflexia Protuberant abdomen Villous atrophy Abnormality of the vasculature Thoracic kyphosis Ovoid vertebral bodies Disproportionate short-trunk short stature B-cell lymphoma Lymphoproliferative disorder Cerebral ischemia Mucopolysacchariduria Precocious atherosclerosis Dentinogenesis imperfecta Cellular immunodeficiency Right ventricular cardiomyopathy Arteriosclerosis Hypoplasia of the capital femoral epiphysis Distal/middle symphalangism of 5th finger



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