Ataxia, and Atrial septal defect

Diseases related with Ataxia and Atrial septal defect

In the following list you will find some of the most common rare diseases related to Ataxia and Atrial septal defect that can help you solving undiagnosed cases.

Top matches:

Other less relevant matches:

Top 5 symptoms//phenotypes associated to Ataxia and Atrial septal defect

Symptoms // Phenotype	% cases
Global developmental delay	Common - Between 50% and 80% cases
Seizures	Common - Between 50% and 80% cases
Intellectual disability	Common - Between 50% and 80% cases
Generalized hypotonia	Common - Between 50% and 80% cases
Motor delay	Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Ataxia and Atrial septal defect. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Nystagmus Muscular hypotonia Cryptorchidism Abnormal cardiac septum morphology Visual impairment Patent foramen ovale Dystonia Frontal bossing Ventricular septal defect Tremor Growth delay Optic atrophy Abnormal cerebellum morphology Neonatal hypotonia Strabismus Macrocephaly

Rare Symptoms - Less than 30% cases

Abnormal heart morphology Aciduria Anemia Abnormality of extrapyramidal motor function Neutropenia Spastic paraplegia Neoplasm Paresthesia Paraplegia Thrombocytopenia Feeding difficulties Patent ductus arteriosus Peripheral neuropathy Decreased fetal movement Hepatomegaly Cardiomyopathy Intrauterine growth retardation Pancytopenia Hypertelorism Infantile muscular hypotonia Microcephaly Delayed speech and language development Gastroesophageal reflux Cerebellar atrophy Autism Upslanted palpebral fissure Aggressive behavior Developmental regression Camptodactyly Polydactyly Hypoplasia of the corpus callosum Fever Skeletal muscle atrophy Respiratory insufficiency Recurrent respiratory infections Respiratory failure Gait ataxia High palate Difficulty walking Low-set ears Abnormality of movement Failure to thrive Retinal dystrophy Abnormal facial shape Hearing impairment Progressive peripheral neuropathy Peripheral axonal neuropathy Rigidity Photophobia Hepatosplenomegaly Mental deterioration Parkinsonism Abnormality of the eye Peripheral demyelination Foot dorsiflexor weakness Skin ulcer Hyperpigmentation of the skin Amblyopia Hypertriglyceridemia Cutaneous photosensitivity Epistaxis Bradykinesia Gastrointestinal hemorrhage Leukemia Lymphoma Brain atrophy Abnormal bleeding Hypopigmentation of the skin Neurodegeneration Sensory neuropathy Bruising susceptibility Falls Lymphadenopathy Jaundice Brainstem dysplasia Reduced visual acuity External genital hypoplasia Agenesis of cerebellar vermis Central apnea Optic nerve coloboma Impaired smooth pursuit Congenital blindness Acute kidney injury Nephronophthisis Molar tooth sign on MRI Abnormal corpus callosum morphology Hypoplasia of the brainstem Chorioretinal coloboma Abnormal electroretinogram Oculomotor apraxia Hepatic fibrosis Renal dysplasia Encephalocele Apraxia Abnormal renal physiology Rotary nystagmus Hyporeflexia Thickened superior cerebellar peduncle Areflexia Recurrent infections Immunodeficiency Splenomegaly Edema Gait disturbance Noncommunicating hydrocephalus Enlarged fossa interpeduncularis Neonatal breathing dysregulation Accessory oral frenulum Cranial nerve paralysis Dysgenesis of the cerebellar vermis Episodic tachypnea Elongated superior cerebellar peduncle Hypoplastic male external genitalia Abnormality of ocular smooth pursuit Metopic synostosis Abnormal saccadic eye movements Leukopenia Hypersplenism Abnormality of vision Flat face Pachygyria Omphalocele Narrow forehead Abnormality of the cardiovascular system Delayed eruption of teeth Single transverse palmar crease Nephropathy Wide nose Thin vermilion border Spastic gait Postnatal growth retardation EEG abnormality Thin upper lip vermilion High forehead Polyhydramnios Cerebral cortical atrophy Brachycephaly Prominent forehead Heterotopia Joint contracture of the hand Agenesis of corpus callosum Deep palmar crease Midline brain calcifications Type I lissencephaly Abnormality of upper lip Pelvic kidney Decerebrate rigidity Agyria Recurrent aspiration pneumonia Cavum septum pellucidum Thick upper lip vermilion Lissencephaly Duodenal atresia Premature skin wrinkling Infantile spasms Progressive spastic paraplegia Prominent occiput Spastic diplegia Abnormality of neuronal migration Deep philtrum Sacral dimple Posteriorly rotated ears Clinodactyly of the 5th finger Decreased nerve conduction velocity Gingivitis Partial albinism Dandy-Walker malformation Hemophagocytosis Spinocerebellar tract degeneration White hair Generalized hypopigmentation Fair hair Periodontitis Iris hypopigmentation Recurrent bacterial skin infections Gingival bleeding Hypopigmentation of hair Generalized hyperpigmentation Resting tremor Sensory axonal neuropathy Cerebral hemorrhage Albinism Melanocytic nevus Macular hypoplasia Oculogyric crisis Inguinal hernia Epicanthus Clinodactyly Abnormality of metabolism/homeostasis Abnormality of cardiovascular system morphology Short nose Anteverted nares Dysphagia Downslanted palpebral fissures Wide nasal bridge Ptosis Hypofibrinogenemia Cataract Cleft palate Micrognathia Generalized hypopigmentation of hair Recurrent systemic pyogenic infections Abnormality of multiple cell lineages in the bone marrow Giant melanosomes in melanocytes Recurrent cutaneous abscess formation Abnormal leukocyte morphology Postaxial hand polydactyly Cardiac arrest Esotropia Decreased activity of mitochondrial complex I Myoclonus Intellectual disability, mild Behavioral abnormality Intellectual disability, severe Decreased activity of mitochondrial complex IV Decreased activity of mitochondrial complex III Concentric hypertrophic cardiomyopathy Severe lactic acidosis Gliosis Optic neuropathy Rhabdomyolysis Apathy Ragged-red muscle fibers Severe muscular hypotonia Sensorimotor neuropathy Increased serum lactate Abnormal pyramidal sign Neuronal loss in central nervous system Lactic acidosis Dysphasia L-2-hydroxyglutaric aciduria Ependymoma Neoplasm of the nervous system Morphological abnormality of the pyramidal tract Organic aciduria Corpus callosum atrophy Atrophy/Degeneration affecting the brainstem Global brain atrophy Tetraparesis Aplasia/Hypoplasia of the cerebellum Encephalitis Leukoencephalopathy Spastic tetraparesis Intellectual disability, progressive Horizontal nystagmus Truncal ataxia Leukodystrophy Metabolic acidosis Dilated cardiomyopathy Severe demyelination of the white matter Dysarthria Asthma Sleep disturbance Respiratory tract infection Apnea Hypothyroidism Pneumonia Respiratory distress Motor tics Choreoathetosis Tics Impulsivity Attention deficit hyperactivity disorder Autistic behavior Anxiety Hyperactivity Absent speech Chorea Abnormal lung morphology Feeding difficulties in infancy Thyroid dysgenesis Hypertrophic cardiomyopathy Acidosis Elevated serum creatine phosphokinase Encephalopathy Ventriculomegaly Cognitive impairment Muscle weakness Compensated hypothyroidism Recurrent pneumonia Increased thyroid-stimulating hormone level Parkinsonism with favorable response to dopaminergic medication Congenital hypothyroidism Abnormality of the thyroid gland Interstitial pulmonary abnormality Athetosis Neonatal respiratory distress Hyperkinesis L-2-hydroxyglutaric acidemia Scoliosis Renal cyst Amenorrhea Polycystic ovaries Cone/cone-rod dystrophy Aminoaciduria Hoarse voice Situs inversus totalis Anorexia Bilateral sensorineural hearing impairment Abnormality of the skin Hyperglycemia Polyneuropathy Retinal degeneration Lethargy Stroke Pallor Hypoglycemia Diabetes mellitus Myelodysplasia Secondary amenorrhea Visual loss Renal insufficiency Postaxial polydactyly Abnormality of the foot Dolichocephaly Retinopathy Coloboma Craniosynostosis Microphthalmia Blindness Macrocytic anemia Hydrocephalus Depressed nasal bridge Thiamine-responsive megaloblastic anemia Paroxysmal atrial tachycardia Sideroblastic anemia Abnormality of the basal ganglia Abdominal situs inversus Megaloblastic anemia Arrhythmia Headache Myopia Short philtrum Intention tremor Prominent nose High, narrow palate Thick vermilion border Long face Poor speech Delayed puberty Wide mouth Dental crowding Muscular hypotonia of the trunk Joint laxity Pes planus Kyphoscoliosis Narrow mouth Cerebellar hypoplasia Malar flattening Kyphosis Open mouth Clonus Congestive heart failure Left ventricular noncompaction Diarrhea Sensorineural hearing impairment Short stature Deviated nasal septum Increased head circumference Perseveration Speech apraxia Slender build Widely spaced teeth Right ventricular hypertrophy Mild global developmental delay Ankylosis Thickened calvaria Hallux valgus Nasal speech Poor suck Relative macrocephaly Bitemporal hollowing

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