Ataxia, and Tetralogy of Fallot
Diseases related with Ataxia and Tetralogy of Fallot
In the following list you will find some of the most common rare diseases related to Ataxia and Tetralogy of Fallot that can help you solving undiagnosed cases.
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Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency is characterised by delayed motor development, hypotonia and progressive neurodegeneration. To date, it has been described in four boys. The syndrome is caused by mutations affecting the two alleles of the HIBCH gene, encoding 3-hydroxyisobutyryl-CoA hydrolase. The mode of transmission has not yet been established.
NEURODEGENERATION DUE TO 3-HYDROXYISOBUTYRYL-COA HYDROLASE DEFICIENCY Is also known as beta-hydroxyisobutyryl coa deacylase deficiency|valine metabolic defect|methacrylic aciduria|hibch deficiency|methacrylic acid toxicity
Related symptoms:
- Seizures
- Global developmental delay
- Generalized hypotonia
- Ataxia
- Nystagmus
SOURCES:
MESH
OMIM
ORPHANET
MENDELIAN
More info about NEURODEGENERATION DUE TO 3-HYDROXYISOBUTYRYL-COA HYDROLASE DEFICIENCY
VELOCARDIOFACIAL SYNDROME Is also known as chromosome 22q11.2 deletion syndrome|shprintzen vcf syndrome|vcf syndrome|vcfs
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
SOURCES:
OMIM
MENDELIAN
More info about VELOCARDIOFACIAL SYNDROME
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
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Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.
FANCONI ANEMIA Is also known as fanconi pancytopenia|fanconi anemia|fa
Related symptoms:
- Intellectual disability
- Global developmental delay
- Short stature
- Hearing impairment
- Microcephaly
SOURCES:
OMIM
ORPHANET
MENDELIAN
More info about FANCONI ANEMIA
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
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
Giant cell arteritis (GCA) is a large vessel vasculitis predominantly involving the arteries originating from the aortic arch and especially the extracranial branches of the carotid arteries.
GIANT CELL ARTERITIS Is also known as horton disease|giant cell arteritis|temporal arteritis|cranial arteritis|polymyalgia rheumatica|gca
Related symptoms:
- Hearing impairment
- Ataxia
- Nystagmus
- Muscle weakness
- Ptosis
SOURCES:
OMIM
ORPHANET
MENDELIAN
More info about GIANT CELL ARTERITIS
Williams syndrome is a rare genetic multisystemic neurodevelopmental disorder characterized by a distinct facial appearance, cardiac anomalies (most frequently supravalvular aortic stenosis), cognitive and developmental abnormalities, and connective tissue abnormalities (such as joint laxity)
WILLIAMS SYNDROME Is also known as deletion 7q11.23|williams syndrome|williams-beuren syndrome|chromosome 7q11.23 deletion syndrome, 1.5- to 1.8-mb|wms|monosomy 7q11.23|ws
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
SOURCES:
OMIM
ORPHANET
MESH
MENDELIAN
More info about WILLIAMS SYNDROME
Combined oxidative phosphorylation deficiency type 3 is an extremely rare clinically heterogenous disorder described in about 5 patients to date. Clinical signs included hypotonia, lactic acidosis, and hepatic insufficiency, with progressive encephalomyopathy or hypertrophic cardiomyopathy.
FATAL MITOCHONDRIAL DISEASE DUE TO COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 3 Is also known as fatal mitochondrial disease due to coxpd3|encephalomyopathy, respiratory failure, and lactic acidosis|concentric cardiomyopathy, hypotonia, and lactic acidosis
Related symptoms:
- Seizures
- Global developmental delay
- Generalized hypotonia
- Ataxia
- Growth delay
SOURCES:
OMIM
MESH
ORPHANET
MENDELIAN
More info about FATAL MITOCHONDRIAL DISEASE DUE TO COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 3
Top 5 symptoms//phenotypes associated to Ataxia and Tetralogy of Fallot
Symptoms // Phenotype |
% cases |
Seizures |
Common - Between 50% and 80% cases
|
Abnormal heart morphology |
Common - Between 50% and 80% cases
|
Global developmental delay |
Common - Between 50% and 80% cases
|
Cognitive impairment |
Common - Between 50% and 80% cases
|
Visual impairment |
Uncommon - Between 30% and 50% cases
|
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Other less frequent symptoms
Patients with Ataxia and Tetralogy of Fallot. may also develop some of the following symptoms:
Uncommon Symptoms - Between 30% and 50% cases
Depressivity
Intellectual disability
Patent ductus arteriosus
Abnormal facial shape
Anemia
Growth delay
Scoliosis
Microcephaly
Hearing impairment
Short stature
Muscular hypotonia
Ptosis
Atrial septal defect
Coarctation of aorta
Generalized hypotonia
Behavioral abnormality
Intrauterine growth retardation
Abnormality of cardiovascular system morphology
Cataract
Hyperreflexia
Pulmonic stenosis
Headache
Hypertrophic cardiomyopathy
Renal insufficiency
Nystagmus
Anxiety
Reduced bone mineral density
Irritability
Weight loss
Delayed speech and language development
Fever
Ventricular septal defect
Spina bifida
Hydrocephalus
Tremor
Peripheral neuropathy
Umbilical hernia
Hypothyroidism
Hyperactivity
Epicanthus
Strabismus
Osteopenia
Autism
Attention deficit hyperactivity disorder
Feeding difficulties
Renal agenesis
Stroke
Optic atrophy
Ventriculomegaly
Hypertelorism
Blindness
Failure to thrive
Hypertonia
Hypertension
Hepatomegaly
Abnormality of the skeletal system
Posterior embryotoxon
Acidosis
Cleft palate
Dysmetria
Abnormal cardiac septum morphology
Abnormality of the liver
Obsessive-compulsive behavior
Malabsorption
Cryptorchidism
Poor coordination
Pruritus
Rare Symptoms - Less than 30% cases
Pointed chin
Small for gestational age
Leukemia
Postnatal growth retardation
Peripheral pulmonary artery stenosis
Pulmonary artery stenosis
Abnormality of the kidney
Neoplasm
Pes planus
Broad forehead
Increased body weight
Diabetes mellitus
Renal hypoplasia
Clinodactyly of the 5th finger
Hematuria
Hepatic failure
Proteinuria
Congestive heart failure
Fatigue
Respiratory distress
Scarring
Facial asymmetry
Abnormal carotid artery morphology
Vertigo
Abnormality of the cardiovascular system
Glaucoma
Kyphoscoliosis
Autistic behavior
Paralysis
Genu valgum
Paresthesia
Peripheral axonal neuropathy
Sudden cardiac death
Joint stiffness
Mitral valve prolapse
Visual loss
Hypsarrhythmia
Sensorimotor neuropathy
Arthralgia
Abdominal pain
Incoordination
Precocious puberty
Muscle weakness
Gangrene
Renovascular hypertension
Renal artery stenosis
Osteoporosis
Intellectual disability, mild
Abnormality of skin pigmentation
Abnormality of nervous system morphology
Lymphoma
Aganglionic megacolon
Recurrent urinary tract infections
Cafe-au-lait spot
Tracheoesophageal fistula
Glucose intolerance
Multiple cafe-au-lait spots
Feeding difficulties in infancy
Abnormal renal morphology
Aplasia/Hypoplasia of the iris
Cardiomyopathy
Elevated serum creatine phosphokinase
Spasticity
Wide nasal bridge
Duodenal stenosis
Blue irides
Cerebral ischemia
Pain
Dysarthria
Macrocephaly
Respiratory insufficiency
Retinal vascular tortuosity
Micrognathia
Arnold-Chiari malformation
Hypospadias
Hearing abnormality
Anal atresia
Developmental regression
Increased serum lactate
Abnormal vertebral morphology
Vesicoureteral reflux
Unilateral renal agenesis
Apathy
Inguinal hernia
High palate
Hypoplasia of the corpus callosum
Conductive hearing impairment
Obesity
Hernia
Specific learning disability
Thrombocytopenia
Cholelithiasis
Psychosis
Schizophrenia
Open mouth
Bicuspid aortic valve
Absent speech
Renal dysplasia
Encephalopathy
Metabolic acidosis
Aggressive behavior
Dystonia
Blepharophimosis
Arthritis
Vomiting
Edema
Corneal opacity
Elfin facies
Hyperlordosis
Protruding ear
Sensorineural hearing impairment
Jaw claudication
Wide mouth
Craniosynostosis
Neurological speech impairment
Retinal arteritis
Low-set, posteriorly rotated ears
Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis
Arteritis
Glossitis
Gastrointestinal infarctions
Nausea and vomiting
Carious teeth
Joint hyperflexibility
Smooth philtrum
Oral cleft
Impaired mastication
Abdominal aortic aneurysm
Flexion contracture
Gastroesophageal reflux
Micropenis
Midface retrusion
High forehead
Macrotia
Cerebral cortical atrophy
Recurrent respiratory infections
Cerebellar hypoplasia
Constipation
Bilateral vocal cord paralysis
Coarse facial features
Joint laxity
Delayed skeletal maturation
Pectus excavatum
Mediastinal lymphadenopathy
Nystagmus-induced head nodding
Malar flattening
Thyroid hemiagenesis
Cleft lip
Long philtrum
Short nose
Intellectual disability, moderate
Kyphosis
Abnormality of the dentition
Myopathy
Gait disturbance
Myopia
Depressed nasal bridge
Amaurosis fugax
Bladder diverticulum
Abnormality of the pleura
Acute promyelocytic leukemia
Severe lactic acidosis
Decreased activity of mitochondrial complex I
Hyperhidrosis
Concentric hypertrophic cardiomyopathy
Alopecia
Arrhythmia
Decreased activity of mitochondrial complex III
Brow ptosis
Tibial pseudoarthrosis
Cerebral artery stenosis
Arterial fibromuscular dysplasia
Spinal neurofibromas
Inguinal freckling
Plexiform neurofibroma
Subcutaneous neurofibromas
Optic neuropathy
Soft tissue sarcoma
Neoplasm of the central nervous system
Gastrointestinal stroma tumor
Fibular bowing
Leiomyosarcoma
Dural ectasia
Epigastric pain
Pseudoarthrosis
Optic nerve glioma
Single ventricle
Axillary freckling
Embryonal rhabdomyosarcoma
Vestibular Schwannoma
Neuroma
Neurofibrosarcoma
Myalgia
Rhabdomyolysis
Recurrent pharyngitis
Elevated erythrocyte sedimentation rate
Skin ulcer
Meningitis
Vasculitis
Ophthalmoparesis
Diabetes insipidus
Visual field defect
Pericarditis
Anorexia
Everted lower lip vermilion
Aortic dissection
Early onset of sexual maturation
Arterial thrombosis
Overfriendliness
Abnormal thrombocyte morphology
Diplopia
Dyssynergia
Patent foramen ovale
Dilated cardiomyopathy
Cough
Ragged-red muscle fibers
Severe muscular hypotonia
Decreased fetal movement
Lactic acidosis
Optic disc pallor
Neonatal hypotonia
Stellate iris
Respiratory failure
Atrophy/Degeneration involving the corticospinal tracts
Epistaxis
Vocal cord dysfunction
Descending aorta hypoplasia
Functional abnormality of male internal genitalia
Thick vermilion border
Chest pain
Sleep disturbance
Hallux valgus
High hypermetropia
Parathyroid hyperplasia
Urethral stenosis
Abnormal glucose tolerance
Increased nuchal translucency
Celiac disease
Thyroid hypoplasia
Abnormal endocardium morphology
Renal duplication
Colonic diverticula
Vertebral segmentation defect
Vascular tortuosity
Abnormality of the ankles
Premature graying of hair
Open bite
Phonophobia
Abnormality of the voice
Hypercalcemia
Failure to thrive in infancy
Radioulnar synostosis
Portal hypertension
Obsessive-compulsive trait
Aortic arch aneurysm
Nephritis
Loss of consciousness
Chronic otitis media
Abnormality of dental morphology
Hypoplastic toenails
Overriding aorta
Polyuria
Tubulointerstitial abnormality
Prematurely aged appearance
Facial cleft
Nocturia
Enuresis
Right ventricular hypertrophy
Cystic renal dysplasia
Tubulointerstitial nephritis
Large earlobe
Abnormality of the neck
Abnormality of the cerebral vasculature
Villous atrophy
Chronic constipation
Dyslexia
Abnormality of refraction
Gait imbalance
Periorbital fullness
Decreased plasma carnitine
Subvalvular aortic stenosis
Peptic ulcer
Hypoplasia of the zygomatic bone
Dysgraphia
Abnormality of lipid metabolism
Arterial stenosis
Rectal prolapse
Periorbital edema
Restlessness
Insomnia
Megalocornea
Arnold-Chiari type I malformation
Vocal cord paralysis
Nevus flammeus
Soft skin
Abnormality of the vasculature
Patellar dislocation
Multiple renal cysts
Down-sloping shoulders
Redundant skin
Synostosis of joints
Postural instability
Recurrent otitis media
Type II diabetes mellitus
Ventricular hypertrophy
Small nail
Thick lower lip vermilion
Myocardial infarction
Hemiparesis
Mitral regurgitation
Cardiomegaly
Abnormal form of the vertebral bodies
Involuntary movements
Nephrolithiasis
Amblyopia
Myxomatous mitral valve degeneration
Unilateral renal hypoplasia
Paroxysmal bursts of laughter
Abnormality of extrapyramidal motor function
Aortic valve stenosis
Dental malocclusion
Hypodontia
Broad nasal tip
Macroglossia
Full cheeks
Medial flaring of the eyebrow
Lacrimation abnormality
Esotropia
Hypoplasia of penis
Otitis media
Microdontia
Dehydration
Abnormality of the diencephalon
Narrow forehead
Hypotelorism
Gingival overgrowth
Hoarse voice
Chronic myelogenous leukemia
Polycystic ovaries
Infantile hypercalcemia
Ischemic stroke
Infantile muscular hypotonia
Food intolerance
Adducted thumb
Abnormality of pelvic girdle bone morphology
Pelvic kidney
Abnormality of the gastric mucosa
Hyperacusis
Dysphonia
Retinal arteriolar tortuosity
Coronary artery stenosis
Hypercalciuria
Abnormality of the bladder
Sacral dimple
Abnormal social behavior
Narrow face
Impaired visuospatial constructive cognition
Increased bone mineral density
Hypogonadotrophic hypogonadism
Calcification of the aorta
Hemivertebrae
Nephrocalcinosis
Abnormality of dental enamel
Abnormality of the fingernails
Flat cornea
Supravalvular aortic stenosis
Spina bifida occulta
Cutis laxa
Abnormal dermatoglyphics
Progressive hearing impairment
Widely spaced teeth
Lisch nodules
Cerebral calcification
Renal phosphate wasting
Psychotic episodes
Retinopathy
Jaundice
Mandibular prognathia
Splenomegaly
Unilateral primary pulmonary dysgenesis
Unilateral lung agenesis
Sacral meningocele
Right aortic arch with mirror image branching
Congenital conductive hearing impairment
Perineal fistula
Vascular ring
Central nervous system degeneration
Arteria lusoria
Aplasia of the thymus
Conotruncal defect
Renal cyst
Velopharyngeal insufficiency
Giant platelets
Paranoia
Impaired T cell function
Right aortic arch
Mood swings
Platybasia
Perimembranous ventricular septal defect
Interrupted aortic arch
Graves disease
Aplasia of the uterus
Seborrheic dermatitis
Juvenile rheumatoid arthritis
Pulmonary artery atresia
Cirrhosis
Triangular face
Echolalia
Upslanted palpebral fissure
Oligohydramnios
Sloping forehead
Hypopigmentation of the skin
Neutropenia
Bruising susceptibility
Astigmatism
Abnormality of the foot
Toe syndactyly
Dolichocephaly
Hip dislocation
Finger syndactyly
Abnormality of the eye
Carcinoma
Proptosis
Hypogonadism
Cyanosis
Exocrine pancreatic insufficiency
Pigmentary retinopathy
Cholestasis
Rickets
Heart murmur
Long nose
Renal tubular acidosis
Wolff-Parkinson-White syndrome
Severe short stature
Cholestatic liver disease
Butterfly vertebrae
Dark urine
Axenfeld anomaly
Frontal bossing
Microphthalmia
Abnormality of the endocrine system
Myelomeningocele
Short palpebral fissure
Encephalomalacia
Hemolytic anemia
Bulbous nose
Congenital cataract
Autoimmunity
Abnormality of the pinna
Mental deterioration
Retrognathia
Posteriorly rotated ears
Dementia
Recurrent infections
Immunodeficiency
Cerebellar atrophy
Intellectual disability, severe
Short neck
Decreased activity of the pyruvate dehydrogenase complex
Chorea
Tetraplegia
Cerebral atrophy
Agenesis of corpus callosum
Myoclonus
Muscular hypotonia of the trunk
Lethargy
Neurodegeneration
Aciduria
Acute encephalopathy
Spastic tetraplegia
Truncal ataxia
Aminoaciduria
Abnormality of the vertebral column
Progressive encephalopathy
Titubation
Bifid uvula
Underdeveloped nasal alae
Truncus arteriosus
Inflammation of the large intestine
Pierre-Robin sequence
Delusions
Meningocele
Hypoparathyroidism
Vitiligo
Bipolar affective disorder
Anal stenosis
Autoimmune thrombocytopenia
Submucous cleft hard palate
Axonal loss
Autoimmune hemolytic anemia
Basal ganglia calcification
Abnormality of the ear
Myopathic facies
Hypoplasia of the brainstem
Amenorrhea
Narrow palpebral fissure
Peripheral demyelination
Low posterior hairline
Primary amenorrhea
Hallucinations
Hypocalcemia
Multicystic kidney dysplasia
Purpura
Acne
Holoprosencephaly
Abnormality of the hand
Nasal speech
Dysdiadochokinesis
Rheumatoid arthritis
Psoriasiform dermatitis
Pancytopenia
Choanal atresia
Schwannoma
Abnormal posturing
Gastrointestinal hemorrhage
Recurrent fractures
Hypoglycemia
Dilatation
Maternal hyperphenylalaninemia
Reduced phenylalanine hydroxylase activity
Phenylpyruvic acidemia
Increased level of hippuric acid in urine
Microphakia
Prenatal maternal abnormality
Hyperphenylalaninemia
Body odor
Folate deficiency
Mood changes
Generalized hypopigmentation
Bone pain
Delayed myelination
Anteverted nares
Skin rash
Abnormality of the cerebral white matter
Dry skin
Nausea
Asthma
Eczema
Fair hair
Spontaneous abortion
Malnutrition
Hypoplastic left heart
Scleroderma
Iron deficiency anemia
Self-mutilation
Overgrowth
Atherosclerosis
Abnormality of the preputium
Neoplasm of the endocrine system
Glioma
Nasolacrimal duct obstruction
Rhabdomyosarcoma
Carcinoid tumor
Paraganglioma
Night sweats
Anomalous pulmonary venous return
Complete atrioventricular canal defect
Pheochromocytoma
Parathyroid adenoma
Aqueductal stenosis
Astrocytoma
Brain neoplasm
Myocardial fibrosis
Meningioma
Venous thrombosis
Pulmonary fibrosis
Breast carcinoma
Sarcoma
Back pain
Clitoral hypertrophy
Sensory axonal neuropathy
Hypophosphatemia
Neurofibromas
Increased reactive oxygen species production
Tibial bowing
Freckling
Osteomalacia
Renal cell carcinoma
Severe vision loss
Overweight
Motor delay
Pyridoxine-responsive sideroblastic anemia
Abnormality of the genital system
Triphalangeal thumb
Abnormal eyelid morphology
Chromosome breakage
External ear malformation
Irregular hyperpigmentation
Aplasia/Hypoplasia of the radius
Absent radius
Abnormality of blood and blood-forming tissues
Acute myeloid leukemia
Myeloid leukemia
Absent thumb
Hydroureter
Ectopic kidney
Squamous cell carcinoma
Hypoplasia of the ulna
Myelodysplasia
Arteriovenous malformation
Type I diabetes mellitus
Telangiectasia
Short thumb
Insulin resistance
Hypergonadotropic hypogonadism
Bone marrow hypocellularity
Horseshoe kidney
Leukopenia
Hyperinsulinemia
Azoospermia
Cranial nerve paralysis
Renal hypoplasia/aplasia
Hypopigmented skin patches
Abnormality of vision
Abnormality of the urinary system
Abnormality of the ulna
B-cell lymphoma
Aplasia/Hypoplasia of fingers
Low-grade fever
Aplasia/Hypoplasia of the uvula
Neoplasm of head and neck
Deficient excision of UV-induced pyrimidine dimers in DNA
Anemic pallor
Prolonged G2 phase of cell cycle
Almond-shaped palpebral fissure
Compensated hypothyroidism
Absent testis
Hypoplastic anemia
Chromosomal breakage induced by crosslinking agents
Decreased fertility in males
Clubbing of toes
Partial duplication of thumb phalanx
Complete duplication of thumb phalanx
Meckel diverticulum
Abnormality of the upper limb
Acute monocytic leukemia
Aplastic anemia
Abnormality of the uterus
Abnormality of the testis
Abnormality of the thumb
Bicornuate uterus
Abnormality of femur morphology
Abnormality of the hypothalamus-pituitary axis
Duplicated collecting system
Abnormal aortic valve morphology
Abnormal localization of kidney
Abnormality of chromosome stability
Reticulocytopenia
Abnormal aortic morphology
Primary hypothyroidism
Decreased activity of mitochondrial complex IV
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Hyperreflexia and Elevated serum creatine phosphokinase, related diseases and genetic alterations
Ptosis and Syncope, related diseases and genetic alterations
Ptosis and Aortic valve stenosis, related diseases and genetic alterations
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