Cognitive impairment, and Coarctation of aorta

Diseases related with Cognitive impairment and Coarctation of aorta

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


Top matches:

Low match ALAGILLE SYNDROME DUE TO A NOTCH2 POINT MUTATION


ALAGILLE SYNDROME DUE TO A NOTCH2 POINT MUTATION Is also known as syndromic bile duct paucity due to a notch2 point mutation|arteriohepatic dysplasia due to a notch2 point mutation|alagille-watson syndrome due to a notch2 point mutation

Related symptoms:

  • Hypertelorism
  • Failure to thrive
  • Cognitive impairment
  • Hypertension
  • Hepatomegaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about ALAGILLE SYNDROME DUE TO A NOTCH2 POINT MUTATION

Low match MOSAIC VARIEGATED ANEUPLOIDY SYNDROME


Mosaic variegated aneuploidy (MVA) syndrome is a chromosomal anomaly characterized by multiple mosaic aneuploidies that leads to a variety of phenotypic abnormalities and cancer predisposition.

MOSAIC VARIEGATED ANEUPLOIDY SYNDROME Is also known as warburton-anyane-yeboa syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MOSAIC VARIEGATED ANEUPLOIDY SYNDROME

Low match MATERNAL PHENYLKETONURIA


Maternal phenylketonuria (PKU) is a rare disorder of phenylalanine metabolism (see this term), an inborn error of amino acid metabolism, characterized by the development of microcephaly, growth retardation, congenital heart disease, facial dysmorphism and intellectual disability in nonphenylketonuric offspring of mothers with excess phenylalanine (Phe) concentrations.

MATERNAL PHENYLKETONURIA Is also known as phenylalanine hydroxylase deficiency|phenylketonuric embryopathy|maternal pku|pah deficiency|folling disease|maternal hyperphenylalaninemia|hyperphenylalaninemic embryopathy|oligophrenia phenylpyruvica

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about MATERNAL PHENYLKETONURIA

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Other less relevant matches:

Low match ADAMS-OLIVER SYNDROME


Adams-Oliver Syndrome (AOS) is a rare disorder characterized by the combination of congenital limb abnormalities and scalp defects, often accompanied by skull ossification defects.

ADAMS-OLIVER SYNDROME Is also known as aplasia cutis congenita with terminal transverse limb defects|congenital scalp defects with distal limb reduction anomalies|congenital scalp defects with distal limb anomalies|aos|absence defect of limbs, scalp, and skull|limb, scalp and skull defects

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ADAMS-OLIVER SYNDROME

Low match ISOLATED COMPLEX I DEFICIENCY


Isolated complex I deficiency is a rare inborn error of metabolism due to mutations in nuclear or mitochondrial genes encoding subunits or assembly factors of the human mitochondrial complex I (NADH: ubiquinone oxidoreductase) and is characterized by a wide range of manifestations including marked and often fatal lactic acidosis, cardiomyopathy, leukoencephalopathy, pure myopathy and hepatopathy with tubulopathy. Among the numerous clinical phenotypes observed are Leigh syndrome, Leber hereditary optic neuropathy and MELAS syndrome (see these terms).

ISOLATED COMPLEX I DEFICIENCY Is also known as isolated nadh-ubiquinone reductase deficiency|nadh:q(1) oxidoreductase deficiency|isolated nadh-coq reductase deficiency|isolated mitochondrial respiratory chain complex i deficiency|isolated nadh-coenzyme q reductase deficiency|nadh-coenzyme q reductase

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about ISOLATED COMPLEX I DEFICIENCY

Low match NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION


Neurofibromatosis type I is an autosomal dominant disorder characterized by cafe-au-lait spots, Lisch nodules in the eye, and fibromatous tumors of the skin. Individuals with the disorder have increased susceptibility to the development of benign and malignant tumors. NF1 is sometimes referred to as 'peripheral neurofibromatosis.' The worldwide incidence of NF1 is 1 in 2,500 to 1 in 3,000 individuals (reviews by Shen et al., 1996 and Williams et al., 2009).Type II neurofibromatosis (NF2 ) is a genetically distinct disorder caused by mutation in the gene encoding merlin (NF2 ) on chromosome 22q12. NF2, sometimes known as 'central neurofibromatosis,' is characterized by bilateral acoustic neuroma and meningioma, but few skin lesions or neurofibromas (Rouleau et al., 1993).Some patients with homozygous or compound heterozygous mutations in mismatch repair genes (see, e.g., MLH1; {120436} and MSH2; {609309}) have a phenotype characterized by early onset malignancies and mild features of NF1, especially cafe-au-lait spots; this is known as the mismatch repair cancer syndrome (OMIM ), sometimes referred to as brain tumor-polyposis syndrome-1 or Turcot syndrome. These patients typically do not have germline mutations in the NF1 gene, although a study by Wang et al. (2003) suggested that biallelic mutations in mismatch repair genes may cause somatic mutations in the NF1 gene, perhaps resulting in isolated features resembling NF1.See also Legius syndrome (OMIM ), a genetically distinct disorder with a similar phenotype to NF1.

NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION Is also known as von recklinghausen disease due to nf1 mutation or intragenic deletion|neurofibromatosis, peripheral type|von recklinghausen disease

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION

Low match FLOATING-HARBOR SYNDROME


Floating-Harbor syndrome is a genetic developmental disorder characterized by facial dysmorphism, short stature with delayed bone age, and expressive language delay.

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about FLOATING-HARBOR SYNDROME

Low match NOONAN SYNDROME 1; NS1


Noonan syndrome (NS) is an autosomal dominant disorder characterized by short stature, facial dysmorphism, and a wide spectrum of congenital heart defects. The distinctive facial features consist of a broad forehead, hypertelorism, downslanting palpebral fissures, a high-arched palate, and low-set, posteriorly rotated ears. Cardiac involvement is present in up to 90% of patients. Pulmonic stenosis and hypertrophic cardiomyopathy are the most common forms of cardiac disease, but a variety of other lesions are also observed. Additional relatively frequent features include multiple skeletal defects (chest and spine deformities), webbed neck, mental retardation, cryptorchidism, and bleeding diathesis (summary by Tartaglia et al., 2002). Genetic Heterogeneity of Noonan SyndromeSee also NS3 (OMIM ), caused by mutation in the KRAS gene (OMIM ); NS4 (OMIM ), caused by mutation in the SOS1 gene (OMIM ); NS5 (OMIM ), caused by mutation in the RAF1 gene (OMIM ); NS6 (OMIM ), caused by mutation in the NRAS gene (OMIM ); NS7 (OMIM ), caused by mutation in the BRAF gene (OMIM ); NS8 (OMIM ), caused by mutation in the RIT1 gene (OMIM ); NS9 (OMIM ), caused by mutation in the SOS2 gene (OMIM ); and NS10 (OMIM ), caused by mutation in the LZTR1 gene (OMIM ).See also NS2 (OMIM ) for a possible autosomal recessive form of NS; Noonan syndrome-like disorder with loose anagen hair-1 (NSLH1 ), caused by mutation in the SHOC2 gene (OMIM ); Noonan syndrome-like disorder with loose anagen hair-2 (NSLH2 ), caused by mutation in the PPP1CB gene (OMIM ); and Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (NSLL ), caused by mutation in the CBL gene (OMIM ).Mutations in the neurofibromin gene (NF1 ), which is the site of mutations causing classic neurofibromatosis type I (NF1 ), have been found in neurofibromatosis-Noonan syndrome (NFNS ).

NOONAN SYNDROME 1; NS1 Is also known as female pseudo-turner syndrome|male turner syndrome|noonan syndrome|turner phenotype with normal karyotype

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NOONAN SYNDROME 1; NS1

Low match DIGEORGE SYNDROME; DGS


DiGeorge syndrome (DGS) comprises hypocalcemia arising from parathyroid hypoplasia, thymic hypoplasia, and outflow tract defects of the heart. Disturbance of cervical neural crest migration into the derivatives of the pharyngeal arches and pouches can account for the phenotype. Most cases result from a deletion of chromosome 22q11.2 (the DiGeorge syndrome chromosome region, or DGCR). Several genes are lost including the putative transcription factor TUPLE1 which is expressed in the appropriate distribution. This deletion may present with a variety of phenotypes: Shprintzen, or velocardiofacial, syndrome (VCFS ); conotruncal anomaly face (or Takao syndrome); and isolated outflow tract defects of the heart including tetralogy of Fallot, truncus arteriosus, and interrupted aortic arch. A collective acronym CATCH22 has been proposed for these differing presentations. A small number of cases of DGS have defects in other chromosomes, notably 10p13 (see {601362}). In the mouse, a transgenic Hox A3 (Hox 1.5) knockout produces a phenotype similar to DGS as do the teratogens retinoic acid and alcohol.

DIGEORGE SYNDROME; DGS Is also known as hypoplasia of thymus and parathyroids|chromosome 22q11.2 deletion syndrome|third and fourth pharyngeal pouch syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about DIGEORGE SYNDROME; DGS

Low match OSTEOPATHIA STRIATA-CRANIAL SCLEROSIS SYNDROME


Osteopathia striata with cranial sclerosis (OS-CS) is a bone dysplasia characterized by longitudinal striations of the metaphyses of the long bones, sclerosis of the craniofacial bones, macrocephaly, cleft palate and hearing loss.

OSTEOPATHIA STRIATA-CRANIAL SCLEROSIS SYNDROME Is also known as hyperostosis generalisata with striations|robinow-unger syndrome

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about OSTEOPATHIA STRIATA-CRANIAL SCLEROSIS SYNDROME

Top 5 symptoms//phenotypes associated to Cognitive impairment and Coarctation of aorta

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Abnormal heart morphology Very Common - Between 80% and 100% cases
Seizures Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Abnormality of cardiovascular system morphology Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Atrial septal defect

Uncommon Symptoms - Between 30% and 50% cases


Abnormal facial shape

Common Symptoms - More than 50% cases


Micrognathia

Uncommon Symptoms - Between 30% and 50% cases


Microcephaly

Common Symptoms - More than 50% cases


Ventricular septal defect

Uncommon Symptoms - Between 30% and 50% cases


Abnormality of the skeletal system

Common Symptoms - More than 50% cases


Short stature

Uncommon Symptoms - Between 30% and 50% cases


Patent ductus arteriosus

Common Symptoms - More than 50% cases


Neoplasm

Uncommon Symptoms - Between 30% and 50% cases


Growth delay Headache Strabismus Hearing impairment Ptosis Dilatation Cataract Low-set ears Intellectual disability, mild Intrauterine growth retardation Hypertelorism Hydrocephalus Anemia Clinodactyly Pulmonic stenosis Hypothyroidism Delayed speech and language development Cleft palate Generalized hypotonia Hypoplasia of the corpus callosum Failure to thrive Vomiting Craniosynostosis Kyphoscoliosis High palate Hypertension Posteriorly rotated ears Short neck Tetralogy of Fallot Triangular face High, narrow palate Downslanted palpebral fissures Ventriculomegaly Epicanthus Gastroesophageal reflux Talipes equinovarus Osteopenia Polyhydramnios Microphthalmia Clinodactyly of the 5th finger Thrombocytopenia Apnea Leukemia Hypertrophic cardiomyopathy Bulbous nose Bicuspid aortic valve Short palpebral fissure Macrocephaly Brachydactyly Depressed nasal bridge Muscular hypotonia Scoliosis Hyperactivity Postnatal growth retardation Dental malocclusion Low posterior hairline Behavioral abnormality Nasal speech Hypertonia Spina bifida Abnormality of the liver Attention deficit hyperactivity disorder Pain Specific learning disability Wide nasal bridge Malabsorption Abnormal cardiac septum morphology Hydronephrosis Hypoplastic left heart Broad forehead Pruritus Hyperreflexia Cardiomyopathy

Rare Symptoms - Less than 30% cases


Cerebral calcification Irritability Peripheral neuropathy Visual impairment Feeding difficulties Bifid uvula Inguinal hernia Sensorineural hearing impairment Nystagmus Syndactyly Spontaneous abortion Sparse hair Aortic valve stenosis Abnormality of the dentition Gastrointestinal hemorrhage Premature birth Polymicrogyria Cleft upper lip Talipes Prominent nasal bridge Abnormality of the kidney Short philtrum Respiratory insufficiency Dysarthria Cryptorchidism Umbilical hernia Conductive hearing impairment Arthritis Telecanthus Stiff neck Pectus excavatum Fever Paralysis Aggressive behavior Facial asymmetry Aganglionic megacolon Neurofibromas Broad thumb Schwannoma Neurofibrosarcoma Broad nasal tip Thin vermilion border Webbed neck Wide intermamillary distance Edema Hypoglycemia Blindness Myopathy Congestive heart failure Hernia Microtia Babinski sign Cleft lip Retrognathia Flexion contracture Amenorrhea Feeding difficulties in infancy Asymmetry of the thorax Ventricular hypertrophy Pseudoarthrosis Incoordination Arnold-Chiari malformation Amblyopia Primary amenorrhea Left ventricular hypertrophy Constipation Anxiety Abnormality of the upper limb Myelodysplasia Cafe-au-lait spot Low-set, posteriorly rotated ears Pigmentary retinopathy Dolichocephaly Rhabdomyosarcoma Abnormality of skin pigmentation Deeply set eye Long face Posterior embryotoxon High forehead Abnormality of the eye Renal dysplasia Glaucoma Ascites Delayed skeletal maturation Holoprosencephaly Microretrognathia Multiple cafe-au-lait spots Frontal bossing Osteolysis Finger clinodactyly Nephroblastoma Cyanosis Multicystic kidney dysplasia Spasticity Depressivity Hepatomegaly Anteverted nares Splenomegaly Renal insufficiency Mandibular prognathia Acidosis Blepharophimosis Renal tubular acidosis Poor coordination Retinopathy Stroke Cirrhosis Wolff-Parkinson-White syndrome Small for gestational age Pulmonary artery stenosis Autism Hepatic failure Otosclerosis Hypogonadism Rod-cone dystrophy Curved fingers Congenital pseudoarthrosis of the clavicle Abnormal soft palate morphology Broad fingertip Epididymal cyst Generalized cerebral atrophy/hypoplasia Enlarged naris Mesocardia Congenital posterior urethral valve Myopia Sclerosis of skull base Thoracolumbar kyphosis Flexion contracture of toe Clumsiness Abdominal pain Patent foramen ovale White forelock Abnormality of blood and blood-forming tissues Neuroblastoma Abnormality of the vertebral column Male infertility Cystic hygroma Abnormality of color vision Leukocytosis Abnormality of the coagulation cascade Radial deviation of finger Cubitus valgus Failure to thrive in infancy Proptosis Elevated alkaline phosphatase Pterygium Poor suck Azoospermia Plagiocephaly Lymphedema Delayed closure of the anterior fontanelle Abnormal bleeding Abdominal distention Bruising susceptibility Fibular aplasia Hypotrichosis Rough bone trabeculation Hyperextensibility of the finger joints Persistent left superior vena cava Otitis media Downturned corners of mouth Small hand Hypoplasia of the maxilla Prominent nose Unilateral facial palsy Underdeveloped nasal alae Laryngeal web High iliac wings Microdontia Hypoplasia of penis Apraxia Interphalangeal joint contracture of finger Recurrent otitis media Craniofacial osteosclerosis Hirsutism Smooth philtrum Short thumb Intellectual disability, moderate Upslanted palpebral fissure Straight clavicles Metaphyseal striations Thin upper lip vermilion Osteopathia striata Joint laxity Joint stiffness Joint hyperflexibility Wide mouth Camptodactyly of finger Facial hyperostosis Neurological speech impairment Hypermetropia Poor speech Long eyelashes Generalized hirsutism Varicocele Speech apraxia Short attention span Enuresis Villous atrophy 11 pairs of ribs Enlarged joints Alobar holoprosencephaly Arnold-Chiari type I malformation Short columella Broad clavicles Broad columella Tethered cord Spinal dysraphism Short upper lip Expressive language delay Abnormality of the clavicle Cone-shaped epiphyses of the phalanges of the hand Nephrocalcinosis Clubbing Abnormality of the fingernails Abnormality of the hand Large iliac wings Abnormality of the voice Trigonocephaly Language impairment Impulsivity Lipoma Preauricular pit High pitched voice Celiac disease Proportionate short stature Laryngotracheomalacia Short clavicles Sprengel anomaly Gonadal dysgenesis Lymphangioma Malignant hyperthermia Visual field defect Decreased circulating parathyroid hormone level Parathyroid hypoplasia Thickened calvaria Parathyroid agenesis Partial agenesis of the corpus callosum Mixed hearing impairment Type I truncus arteriosus Accommodative esotropia Dysphasia Intellectual disability, severe Aphasia Delayed cranial suture closure Long philtrum Severe short stature Sacral meningocele Esophoria Hyperostosis Abnormality of the middle ear Alcoholism Right aortic arch Impaired T cell function Perisylvian polymicrogyria Duodenal stenosis Retinal vascular tortuosity Submucous cleft hard palate Right aortic arch with mirror image branching Abnormality of the thymus Vascular tortuosity Natal tooth Conotruncal defect Aplasia of the thymus Arteria lusoria Prominent forehead Flat occiput Anal stenosis Large fontanelles Lumbar hyperlordosis Thick lower lip vermilion Open mouth Abnormality of the metaphysis Mutism Omphalocele Cutaneous syndactyly Narrow forehead Dental crowding Abnormal vertebral morphology Joint contracture of the hand Increased bone mineral density Narrow palate Spina bifida occulta Oligohydramnios Abnormality of the skin Overfolded helix Camptodactyly Metaphyseal widening Increased susceptibility to fractures Pyloric stenosis Brachycephaly Skeletal dysplasia Facial palsy Hyperlordosis Intestinal malrotation Ophthalmoplegia Anal atresia Arachnodactyly Flat face Thick vermilion border Delayed eruption of teeth Femoral hernia Interrupted aortic arch Drusen Obesity Preductal coarctation of the aorta Facial paralysis Postductal coarctation of the aorta Immunodeficiency Recurrent infections Large forehead Narrow mouth Reduced factor XIII activity Broad ribs Thoracic dysplasia Abnormality of the pinna Autoimmunity Ectopic anus Echolalia Nasogastric tube feeding Gonadal neoplasm Misalignment of teeth Optic disc hypoplasia Nonimmune hydrops fetalis Atrial flutter Restrictive cardiomyopathy Shield chest Synovitis Multiple lentigines Hypoplastic aortic arch Pectus excavatum of inferior sternum Amegakaryocytic thrombocytopenia Superior pectus carinatum Reduced factor XII activity Panuveitis Juvenile myelomonocytic leukemia Loose anagen hair Generalized tonic-clonic seizures Astigmatism Graves disease Truncus arteriosus Autoimmune thrombocytopenia Bipolar affective disorder Vitiligo Hypoparathyroidism Meningocele Sclerocornea Myelomeningocele Inflammation of the large intestine Tetany Juvenile rheumatoid arthritis Seborrheic dermatitis Anterior segment developmental abnormality Hypoplasia of the thymus Aplasia of the uterus Autoimmune hemolytic anemia Acne Osteopetrosis Tracheomalacia Iris coloboma Hemolytic anemia Chorea Renal agenesis Pierre-Robin sequence Ankylosis Fibular hypoplasia Unilateral renal agenesis Exotropia Hypocalcemia Purpura Schizophrenia Cholelithiasis Rheumatoid arthritis Psoriasiform dermatitis Perimembranous ventricular septal defect Paresthesia Hypospadias Supernumerary nipple Telangiectasia Meningitis Leukopenia Abnormality of the metacarpal bones Portal hypertension Cutis marmorata Cortical dysplasia Encephalocele Aplasia/Hypoplasia of the skin Cutaneous finger syndactyly Aplasia cutis congenita Oligodactyly Central hypotonia Double outlet right ventricle Pachygyria Split hand Arteriovenous malformation EEG abnormality Increased level of hippuric acid in urine Phenylpyruvic acidemia Reduced phenylalanine hydroxylase activity Maternal hyperphenylalaninemia Alopecia Cerebellar hypoplasia Finger syndactyly Hemiparesis Toe syndactyly Short distal phalanx of finger Esotropia Nail dysplasia Pulmonary arterial hypertension Small nail Calvarial skull defect Abnormality of the lower limb Prenatal maternal abnormality Respiratory distress Ataxia Muscle weakness Skeletal muscle atrophy Optic atrophy Fatigue Dysphagia Cerebellar atrophy Aplasia cutis congenita over posterior parietal area Dystonia Encephalopathy Areflexia Hyporeflexia Pneumonia Agenesis of corpus callosum Aplasia cutis congenita on trunk or limbs Acrania Hypoplastic fingernail Chylothorax Pulmonary artery atresia Esophageal varix Congenital hepatic fibrosis Porencephalic cyst Periventricular leukomalacia Aplasia cutis congenita of scalp Aplastic/hypoplastic toenail Imperforate hymen Absent hand Absent fingernail Venous malformation Abnormal pulmonary valve morphology Absent toe Cutis marmorata telangiectatica congenita Periventricular cysts Microphakia Hyperphenylalaninemia Respiratory failure Sloping forehead Short nose Corneal opacity Muscular dystrophy Wide nose Growth hormone deficiency Dandy-Walker malformation Ambiguous genitalia Dark urine Depressed nasal ridge Rhizomelia Aortic regurgitation Aplasia/Hypoplasia of the corpus callosum Sleep apnea Abnormality of vision Axenfeld anomaly Butterfly vertebrae Colon cancer Cholestasis Jaundice Proteinuria Scarring Hematuria Renal cyst Renal hypoplasia Increased body weight Peripheral pulmonary artery stenosis Pointed chin Rickets Heart murmur Long nose Exocrine pancreatic insufficiency Cholestatic liver disease Aplasia/Hypoplasia of the cerebellum Atrioventricular canal defect Body odor Iron deficiency anemia Delayed myelination Eczema Psychosis Obsessive-compulsive behavior Malnutrition Scleroderma Self-mutilation Nausea Blue irides Fair hair Generalized hypopigmentation Abnormal posturing Mood changes Folate deficiency Asthma Dry skin Abnormality of immune system physiology Stomach cancer Abnormal lung lobation Acute lymphoblastic leukemia Abnormality of the skull Duodenal atresia Intestinal polyposis Subvalvular aortic stenosis Abnormal aortic morphology Abnormality of the cerebral white matter Increased nuchal translucency Epidermoid cyst Premature chromatid separation Vaginal neoplasm Motor delay Tremor Skin rash Myoclonus Proximal muscle weakness Gait disturbance Overweight Pulmonary fibrosis Tibial bowing Freckling Osteomalacia Renal cell carcinoma Severe vision loss Increased reactive oxygen species production Sensory axonal neuropathy Gangrene Meningioma Neoplasm of the endocrine system Myocardial fibrosis Brain neoplasm Astrocytoma Hypophosphatemia Clitoral hypertrophy Parathyroid adenoma Bone pain Recurrent fractures Lymphoma Overgrowth Abnormality of the cardiovascular system Mitral valve prolapse Hypsarrhythmia Sensorimotor neuropathy Precocious puberty Atherosclerosis Venous thrombosis Reduced bone mineral density Breast carcinoma Sarcoma Back pain Aqueductal stenosis Pheochromocytoma Genu valgum Acute promyelocytic leukemia Axillary freckling Embryonal rhabdomyosarcoma Vestibular Schwannoma Neuroma Optic nerve glioma Subcutaneous neurofibromas Plexiform neurofibroma Renal artery stenosis Inguinal freckling Spinal neurofibromas Arterial fibromuscular dysplasia Cerebral artery stenosis Tibial pseudoarthrosis Brow ptosis Renovascular hypertension Single ventricle Complete atrioventricular canal defect Renal phosphate wasting Anomalous pulmonary venous return Night sweats Paraganglioma Carcinoid tumor Nasolacrimal duct obstruction Glioma Chronic myelogenous leukemia Soft tissue sarcoma Lisch nodules Neoplasm of the central nervous system Gastrointestinal stroma tumor Fibular bowing Leiomyosarcoma Dural ectasia Epigastric pain Peripheral axonal neuropathy Autistic behavior Myalgia Congenital diaphragmatic hernia Gliosis Brain atrophy Migraine Increased serum lactate Febrile seizures Optic disc pallor Cardiomegaly Progressive cerebellar ataxia Wide anterior fontanel Leukodystrophy Aspiration Cardiac arrest Horizontal nystagmus Exercise intolerance Generalized myoclonic seizures Abnormal cerebellum morphology Shock Lethargy Muscular hypotonia of the trunk Mental deterioration Developmental regression Pallor Abnormal pyramidal sign Severe global developmental delay Limb muscle weakness Coma Abnormality of eye movement Abnormality of movement Stage 5 chronic kidney disease Lactic acidosis Dyskinesia Hepatic steatosis Metabolic acidosis Pancreatitis Leukoencephalopathy Weight loss Progressive macrocephaly Decreased activity of mitochondrial respiratory chain Axial dystonia Biventricular hypertrophy Infantile encephalopathy Macrovesicular hepatic steatosis Cardiogenic shock Necrotizing encephalopathy Cerebral edema Congenital lactic acidosis Abnormal mitochondria in muscle tissue Acute necrotizing encephalopathy Exercise-induced lactic acidemia Visual loss Osteoporosis Acute pancreatitis Severe lactic acidosis Ragged-red muscle fibers Weak cry Oral-pharyngeal dysphagia Adrenal insufficiency Global brain atrophy Pericardial effusion Progressive spasticity Poor eye contact Basal ganglia calcification Corpus callosum atrophy Optic neuropathy Progressive encephalopathy Mitochondrial myopathy Cardiorespiratory arrest Aspiration pneumonia Nemaline bodies Increased CSF lactate Paranasal sinus hypoplasia



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