Cardiomyopathy, and Bulbous nose

Diseases related with Cardiomyopathy and Bulbous nose

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


Top matches:

Medium match LETHAL LEFT VENTRICULAR NON-COMPACTION-SEIZURES-HYPOTONIA-CATARACT-DEVELOPMENTAL DELAY SYNDROME


Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome is rare, genetic, neurometabolic disease characterized by global developmental delay, severe hypotonia, seizures, cataracts, cardiomyopathy (including left or bi-ventricular hypertrophy, dilated cardiomyopathy) and left ventricular non-compaction, typically resulting in infantile or early-childhood death. Patients usually present metabolic lactic acidosis, failure to thrive, head lag, respiratory problems and decrease in respiratory chain complex activity. Highly variable cerebral abnormalities have been reported and include microcephaly, prominent extra-axial cerebrospinal fluid spaces, diffuse neuronal loss and cortical/white matter gliosis.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about LETHAL LEFT VENTRICULAR NON-COMPACTION-SEIZURES-HYPOTONIA-CATARACT-DEVELOPMENTAL DELAY SYNDROME

Medium match KLIPPEL-FEIL ANOMALY-MYOPATHY-FACIAL DYSMORPHISM SYNDROME


Klippel-Feil syndrome-4 with nemaline myopathy and facial dysmorphism is an autosomal recessive disorder characterized mainly by severe hypotonia apparent from infancy. Klippel-Feil anomaly is primarily defined by fusion of the cervical spine, with associated low posterior hairline and limited neck mobility being observed in about half of patients (summary by Alazami et al., 2015).For a general description and a discussion of genetic heterogeneity of Klippel-Feil syndrome, see KFS1 (OMIM ).

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Scoliosis
  • Micrognathia


SOURCES: OMIM ORPHANET MENDELIAN

More info about KLIPPEL-FEIL ANOMALY-MYOPATHY-FACIAL DYSMORPHISM SYNDROME

Medium 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

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Other less relevant matches:

Medium match ANDERSEN-TAWIL SYNDROME


Andersen's syndrome (AS) is a rare disorder characterized by periodic muscle paralysis, prolongation of the QT interval with a variety of ventricular arrhythmias (leading to predisposition to sudden cardiac death) and characteristic physical features: short stature, scoliosis, low-set ears, hypertelorism, broad nasal root, micrognathia, clinodactyly, brachydactyly and syndactyly.

ANDERSEN-TAWIL SYNDROME Is also known as andersen syndrome|long qt syndrome type 7|lqt7

Related symptoms:

  • Short stature
  • Scoliosis
  • Hypertelorism
  • Micrognathia
  • Abnormal facial shape


SOURCES: ORPHANET MENDELIAN

More info about ANDERSEN-TAWIL SYNDROME

Medium match BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, OHDO TYPE


Ohdo blepharophimosis syndrome (OBS) is a multiple congenital malformation syndrome characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability.

BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, OHDO TYPE Is also known as young-simpson syndrome|ohdo syndrome|ohdo-madokoro-sonoda syndrome|say-barber-biesecker-young-simpson syndrome|bmrs, ohdo type|yss|blepharophimosis syndrome, ohdo type

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, OHDO TYPE

Medium 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

Medium 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

Medium 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

Medium 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

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Bulbous nose

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Cataract Common - Between 50% and 80% cases
Low-set ears Common - Between 50% and 80% cases
Congestive heart failure Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Cardiomyopathy and Bulbous nose. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Microcephaly Scoliosis Abnormal facial shape Short stature Feeding difficulties Posteriorly rotated ears Micrognathia Hearing impairment Thin upper lip vermilion Hypertension Motor delay High palate Global developmental delay Intellectual disability Dilated cardiomyopathy Depressed nasal bridge Hypertrophic cardiomyopathy Gliosis Arrhythmia Thick vermilion border Cognitive impairment Abnormality of the kidney Depressivity Macrotia Coarse facial features Atrial septal defect Myopia Hypertelorism Strabismus Cryptorchidism Delayed speech and language development Downslanted palpebral fissures Hernia Renal insufficiency Ventriculomegaly Hepatomegaly Short neck Failure to thrive Growth delay Intellectual disability, severe Abnormality of the dentition Ptosis Ventricular arrhythmia Muscular hypotonia Flexion contracture Hypothyroidism Proteinuria Vomiting Heart murmur

Rare Symptoms - Less than 30% cases


Umbilical hernia Thickened skin Joint hypermobility Thick eyebrow Functional abnormality of the gastrointestinal tract Hemangioma Polyhydramnios Intellectual disability, profound Dyspnea Thick lower lip vermilion Biventricular hypertrophy Mandibular prognathia Hydronephrosis Epicanthus Intrauterine growth retardation Abnormal heart morphology Microdontia Fatigue Respiratory insufficiency Prominent forehead High forehead Feeding difficulties in infancy Dilatation Hepatic steatosis Cardiomegaly Lymphedema Enlarged kidney Aortic root aneurysm Sensorineural hearing impairment Macrocephaly Splenomegaly Large for gestational age Headache Dystrophic fingernails Transient ischemic attack Reduced bone mineral density Chronic kidney disease Abnormality of the cardiovascular system Glomerulosclerosis Abnormal myocardium morphology Melanocytic nevus Emphysema Multiple cafe-au-lait spots Abdominal distention Glomerulopathy Abnormality of the gastrointestinal tract Hyperlipidemia Subvalvular aortic stenosis Abnormality of the cerebral white matter Pruritus Hyperkeratosis Multiple lentigines Hyperhidrosis Constipation Abnormal heart valve morphology Optic atrophy Edema Abnormal mitral valve morphology Gastrointestinal dysmotility Hyperextensibility of the finger joints Stroke Cavernous hemangioma Anemia Fever Diarrhea Kyphosis Behavioral abnormality Thrombocytopenia Osteopenia Developmental regression Scarring Corneal opacity Abnormal aortic valve morphology Malabsorption T-wave inversion Myocardial infarction Stage 5 chronic kidney disease Abnormality of skin pigmentation Nephropathy Premature birth Nephrotic syndrome Fine hair Abnormal lung morphology Astigmatism Narrow palate High, narrow palate Dolichocephaly Protruding ear Cleft palate Wide mouth Retrognathia Brachydactyly Malar flattening Elevated serum creatine phosphokinase Clinodactyly of the 5th finger Joint laxity Broad forehead Inguinal hernia Talipes equinovarus Ventricular tachycardia Ventricular septal defect Palpitations Wide nasal bridge Long philtrum Syncope Sudden cardiac death Pectus excavatum Clinodactyly Falls Bilateral ptosis Low posterior hairline Webbed neck Blepharophimosis Pneumonia Abnormal palate morphology Acidosis Cutis laxa Anteverted nares Right bundle branch block Hypertonia Polymicrogyria Midface retrusion Sloping forehead Bundle branch block Growth abnormality Triangular face Limb pain Vascular skin abnormality Distal renal tubular acidosis Abnormality of the optic disc Increased nuchal translucency Abnormal tricuspid valve morphology Tubulointerstitial fibrosis Chronic pain Abnormal renal physiology Miosis Patchy alopecia Periorbital fullness Optic nerve dysplasia Increased blood urea nitrogen Reduced sperm motility Hypoplasia of the frontal lobes Generalized ichthyosis Laryngeal cleft Asymmetric septal hypertrophy Tongue thrusting Angiokeratoma Retinal vascular tortuosity Vascular tortuosity Abnormal thrombosis Anterior creases of earlobe Frontal balding Endocarditis Abnormality of cardiovascular system physiology Abnormal endocardium morphology High-frequency hearing impairment Abnormality of hair texture Excessive wrinkled skin Decreased female libido Abnormality of temperature regulation Abnormality of the pulmonary artery Thickened helices Abnormality of the renal tubule Nephrogenic diabetes insipidus Decreased glomerular filtration rate Primary hypothyroidism Microalbuminuria Sparse or absent eyelashes Conjunctival telangiectasia Supraventricular arrhythmia Corneal crystals Dysesthesia Abnormal cornea morphology Malnutrition Sinus bradycardia Hyperkeratosis pilaris Anhidrosis Personality changes Clubbing Impaired vibratory sensation Tricuspid regurgitation Diabetes insipidus Polyuria Loss of consciousness Hemiplegia Impotence Eyelid fasciculation Multiple palmar creases Abnormality of the auditory canal Inappropriate crying Cutaneous T-cell lymphoma Polydipsia Multiple plantar creases Elevated erythrocyte sedimentation rate Aortic regurgitation Fasciculations Abnormal autonomic nervous system physiology Spontaneous abortion Exercise intolerance Aminoaciduria Purpura Abnormal intestine morphology Abnormality of the hand Progressive hearing impairment Corneal dystrophy Ischemic stroke Tinnitus Easy fatigability Atrioventricular block Prominent supraorbital ridges Coronary artery atherosclerosis Interstitial pulmonary abnormality Restrictive cardiomyopathy Chronic obstructive pulmonary disease Supraventricular tachycardia Heat intolerance Reduced ejection fraction Peripheral arterial stenosis Clubbing of fingers Angina pectoris Achalasia Oligospermia Obstructive lung disease Myocardial fibrosis Chronic fatigue Abnormality of the hairline Abnormality of femur morphology Abnormality of the nose Large earlobe Abnormal location of ears Progressive sensorineural hearing impairment Wheezing Orthostatic hypotension Celiac disease Telangiectasia of the skin Morphological abnormality of the gastrointestinal tract Glycosuria Renal tubular acidosis Abnormality of lipid metabolism Tubular atrophy Abnormal EKG Puberty and gonadal disorders Xerostomia Renal tubular dysfunction Edema of the lower limbs Tubulointerstitial nephritis Elevated serum creatinine Slow-growing hair Coronary artery stenosis Impaired temperature sensation Narrow forehead Underdeveloped supraorbital ridges Dental malocclusion Anal stenosis Submucous cleft hard palate Growth hormone deficiency Progressive visual loss Coarctation of aorta Poor appetite Hemiparesis Inflammatory abnormality of the skin Open mouth Decreased body weight Generalized hyperpigmentation Cafe-au-lait spot Intestinal malrotation Vesicoureteral reflux Cerebral visual impairment Bruising susceptibility Genu valgum Dry skin Ichthyosis Peripheral axonal neuropathy Abnormal eyelash morphology Long face Retinal dystrophy Atopic dermatitis Sleep disturbance Palmoplantar keratoderma Abnormal bleeding Full cheeks Alopecia of scalp Nevus Hyperpigmentation of the skin Aspiration Hypotrichosis Sparse eyebrow Poor suck Hyperextensible skin Deep philtrum Redundant skin Brittle hair Failure to thrive in infancy Scaling skin Hydroureter Pleural effusion Ectropion Cubitus valgus Chronic otitis media Obsessive-compulsive behavior Absent eyebrow Relative macrocephaly Aplasia/Hypoplasia of the eyebrow Abnormality of the nail Delayed gross motor development Sparse eyelashes Oculomotor apraxia Curly hair Aplasia/Hypoplasia of the corpus callosum Sleep apnea Abnormality of the genitourinary system Optic nerve hypoplasia Neurodevelopmental delay Biparietal narrowing Long palpebral fissure Palmoplantar hyperkeratosis Abnormality of vision Abnormality of the sternum Infantile spasms Neurofibromas Pulmonic stenosis Arnold-Chiari type I malformation Hyposthenuria Abnormal ST segment Abnormal hair pattern Left ventricular septal hypertrophy Tenesmus Heavy proteinuria Acroparesthesia Abnormal common carotid artery morphology Increased carotid artery intimal medial thickness Abnormality of the optic nerve Increased glomerular filtration rate Abnormality of the common coagulation pathway Thick upper lip vermilion Abnormal glomerular filtration rate Cornea verticillata Woolly hair Tortuosity of conjunctival vessels Hyperkeratotic papule Short attention span Concentric hypertrophic cardiomyopathy Shortened QT interval Deep palmar crease Angiokeratoma corporis diffusum Decreased lacrimation Shortened PR interval Open bite Abnormality of refraction Abnormality of the forehead Mucosal telangiectasiae Unexplained fevers ST segment depression Delayed CNS myelination Impaired renal concentrating ability Abnormality of glycosphingolipid metabolism Abnormality of the testis Ataxia Abnormality of the ulna Hypermetropia Erythema Aggressive behavior Telecanthus Low-set, posteriorly rotated ears Abnormality of the eye Irritability Respiratory tract infection Sparse hair Gastroesophageal reflux Abnormal cardiac septum morphology Pectus carinatum Absent eyelashes Leukemia Neurological speech impairment Nail dystrophy EEG abnormality Proptosis Premature skin wrinkling Blindness Nystagmus Neoplasm Dysarthria Frontal bossing Dysphagia Hydrocephalus Short nose Hypoplasia of the zygomatic bone Cerebral atrophy Abnormality of cardiovascular system morphology Encephalopathy Delayed skeletal maturation Alopecia Cerebral cortical atrophy Autism Bradycardia Encephalitis Hypohidrosis Macular degeneration Respiratory distress Hyperreflexia Multiple bladder diverticula Neonatal asphyxia Abnormal palmar dermatoglyphics Epicanthus inversus Patellar hypoplasia Hypoplasia of teeth Congenital hypothyroidism Prominent occiput Scrotal hypoplasia Abnormality of the outer ear Widely spaced teeth Torticollis Amblyopia Respiratory failure Aplasia/Hypoplasia of the maxilla Periodic hypokalemic paresis Effort-induced polymorphic ventricular tachycardias Muscle fiber tubular inclusions Antegonial notching of mandible Bidirectional ventricular ectopy Prominent frontal sinuses Intellectual disability, mild Recurrent otitis media Microphthalmia Narrow mouth Postnatal growth retardation Microtia Talipes Delayed myelination Agenesis of corpus callosum Hypoglycemia Short digit Polycystic kidney dysplasia Macrovesicular hepatic steatosis Increased total bilirubin Dicarboxylic aciduria Abnormality of nervous system morphology Long toe Ureteral duplication Cystic renal dysplasia Hypoketotic hypoglycemia Hypothermia Heart block Hyperkalemia Cerebral hemorrhage Hypoplastic toenails Overfolded helix Hyperammonemia Elevated hepatic transaminase Metabolic acidosis Neonatal hypotonia Apnea Lethargy Abnormality of the foot Hepatic failure Tapered finger Coma Knee flexion contracture Aciduria Wide intermamillary distance Oligohydramnios Renal dysplasia Elbow flexion contracture Multicystic kidney dysplasia Short mandibular rami Clinodactyly of the 5th toe Increased muscle lipid content Fused cervical vertebrae Disproportionate tall stature Mask-like facies Focal impaired awareness seizure Narrow palpebral fissure Pointed chin Convex nasal ridge Focal-onset seizure Sepsis Camptodactyly Micropenis Hypoplasia of the corpus callosum Limitation of neck motion Cervical C2/C3 vertebral fusion Acetabular dysplasia Nemaline bodies Cavum septum pellucidum Hyperalaninemia Deeply set eye Facial asymmetry Lactic acidosis Increased serum lactate Neuronal loss in central nervous system Left ventricular noncompaction Muscle weakness Thoracolumbar scoliosis Myopathy Everted lower lip vermilion Underdeveloped nasal alae Frequent falls Mild short stature Centrally nucleated skeletal muscle fibers Entropion Wide nasal base First degree atrioventricular block Scapular winging Delayed eruption of permanent teeth Periodic paralysis Abnormal T-wave Abnormal atrioventricular conduction Torsade de pointes Left bundle branch block Ventricular extrasystoles Short finger Prolonged QT interval 2-3 toe syndactyly Myotonia Short metatarsal Oligodontia Reduced tendon reflexes Bilateral single transverse palmar creases Narrow naris Small hand Syndactyly Toe syndactyly Limb muscle weakness Thin vermilion border Short palm Wide nose Hypoplasia of the maxilla Cardiac arrest Broad nasal tip Short metacarpal Febrile seizures Specific learning disability Hypoplasia of dental enamel Short phalanx of finger Nonketotic hypoglycemia Elevated long chain fatty acids Anorexia Villous atrophy Abnormal immunoglobulin level Abnormal T cell morphology Encephalomalacia Increased thyroid-stimulating hormone level Shallow acetabular fossae Steroid-resistant nephrotic syndrome Mucopolysacchariduria Hypoplasia of the capital femoral epiphysis Arteriosclerosis Right ventricular cardiomyopathy Cellular immunodeficiency Dentinogenesis imperfecta Precocious atherosclerosis Cerebral ischemia Lymphoproliferative disorder Premature arteriosclerosis Combined immunodeficiency Epiphyseal dysplasia Glomerulonephritis Nephritis Spondyloepiphyseal dysplasia Focal segmental glomerulosclerosis High pitched voice Hypermelanotic macule B-cell lymphoma Steatorrhea Protuberant abdomen Abnormality of the vasculature Thoracic kyphosis Ovoid vertebral bodies Disproportionate short-trunk short stature Moyamoya phenomenon Anterior pituitary dysgenesis Azoospermia Paresthesia Left ventricular hypertrophy Subcutaneous nodule Mitral regurgitation Atrial fibrillation Ventricular hypertrophy Mitral valve prolapse Hypotension Urinary incontinence Chest pain Muscle cramps Hematuria Tachycardia Nausea Vertigo Delayed puberty Nephrosclerosis Carcinoma Lateral displacement of the femoral head Pain Peripheral neuropathy Abdominal pain Arthralgia Myalgia Arthritis Nausea and vomiting Anxiety Abnormality of the nervous system Skin rash Cough Prominent nasal bridge Papule Coarse hair Atherosclerosis Basal ganglia cysts Delayed eruption of teeth Anonychia Metaphyseal widening Spina bifida occulta Accelerated skeletal maturation Intellectual disability, progressive Hemivertebrae Generalized hirsutism Gingival overgrowth Nephrolithiasis Hypertrichosis Small nail Bilateral sensorineural hearing impairment Overgrowth Macroglossia Hirsutism Protruding tongue Elevated serum long-chain fatty acids Hepatic calcification Decreased plasma free carnitine Tapered toe Intracerebral periventricular calcifications Antenatal intracerebral hemorrhage Decreased plasma total carnitine Long-chain dicarboxylic aciduria Short distal phalanx of finger Abnormality of the skeletal system Patent ductus arteriosus Polydactyly Hepatosplenomegaly Congenital cataract Synophrys Pericardial effusion Broad ribs Opacification of the corneal stroma Hip dislocation Bone marrow hypocellularity Lymphopenia Abnormality of epiphysis morphology Heterotopia Abnormal form of the vertebral bodies Lumbar hyperlordosis Decreased testicular size Waddling gait Lymphoma Migraine Brain atrophy Abnormal cerebellum morphology Neutropenia Platyspondyly Autoimmunity Thin bony cortex Aortic arch aneurysm Colpocephaly Long penis Gingival fibromatosis Biliary atresia Generalized hypertrichosis Everted upper lip vermilion Prominent eyelashes Hyperlordosis Short distal phalanx of toe Mesiodens Cerebellar atrophy Immunodeficiency Recurrent infections Dementia Oral aversion



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