Ataxia, and Gastroesophageal reflux

Diseases related with Ataxia and Gastroesophageal reflux

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


Top matches:

Medium match HEREDITARY HYPEREKPLEXIA


Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses.

HEREDITARY HYPEREKPLEXIA Is also known as hereditary hyperexplexia|familial startle disease|kok disease|startle disease, familial|stiff baby syndrome|exaggerated startle reaction|sthe|congenital stiff man syndrome|stiff-baby syndrome|stiff-person syndrome, congenital|startle reaction, exaggerated

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Spasticity
  • Hyperreflexia


SOURCES: OMIM ORPHANET MENDELIAN

More info about HEREDITARY HYPEREKPLEXIA

Medium match PONTOCEREBELLAR HYPOPLASIA TYPE 8


Pontocerebellar hypoplasia type 8 (PCH8) is a novel very rare form of pontocerebellar hypoplasia (see this term) characterized clinically by progressive microencephaly, feeding difficulties, severe developmental delay, although walking may be achieved, hypotonia often associated with increased muscle tone of lower extremities and deep tendon reflexes, joint deformities in the lower extremities, and occasionally complex seizures. PCH8 is caused by a loss-of-function mutation in the CHMP1A gene. MRI demonstrates a pontocerebellar hypoplasia with vermis and hemispheres equally affected and mild to severely reduced cerebral white matter volume with a fully formed very thin corpus callosum.

PONTOCEREBELLAR HYPOPLASIA TYPE 8 Is also known as pontocerebellar hypoplasia due to chmp1a mutation|pch8

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA TYPE 8

Medium match RETT SYNDROME, CONGENITAL VARIANT


The congenital variant of Rett syndrome is a severe neurodevelopmental disorder with features of classic Rett syndrome (RTT ), but earlier onset in the first months of life. Classic Rett syndrome shows later onset and is caused by mutation in the MECP2 gene (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about RETT SYNDROME, CONGENITAL VARIANT

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Other less relevant matches:

Medium match HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY DUE TO TECPR2 MUTATION


Hereditary sensory and autonomic neuropathy due to TECPR2 mutation is a rare genetic peripheral neuropathy characterized by early hypotonia evolving to spastic paraparesis, areflexia, decreased pain and temperature sensitivity, autonomic neuropathy, gastroesophageal reflux disease, recurrent pneumonia and respiratory problems. Patients also have intellectual disability and dysmorphic features, including mild brachycephalic microcephaly, short broad neck, low anterior hairline and coarse face.

HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY DUE TO TECPR2 MUTATION Is also known as spg49|autosomal recessive spastic paraplegia type 49|hsan due to tecpr2 mutation

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY DUE TO TECPR2 MUTATION

Medium match MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB


MRXSB is an X-linked dominant neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability with behavioral abnormalities, and dysmorphic facial features. Additional variable features include musculoskeletal abnormalities, seizures, acquired microcephaly, and feeding problems with poor overall growth. Only females are affected (summary by Bain et al., 2016).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB

Medium match NON-PROGRESSIVE CEREBELLAR ATAXIA WITH INTELLECTUAL DISABILITY


Non-progressive cerebellar ataxia with intellectual deficit is a rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by the onset in infancy of cerebellar ataxia, neonatal hypotonia (in some), mild developmental delay and, in later life, intellectual disability. Less common features include dysarthria, dysmetria and dysmorphic facial features (long face, bulbous nose long philtrum, thick lower lip and pointed chin).

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about NON-PROGRESSIVE CEREBELLAR ATAXIA WITH INTELLECTUAL DISABILITY

Medium match UNDETERMINED EARLY-ONSET EPILEPTIC ENCEPHALOPATHY


UNDETERMINED EARLY-ONSET EPILEPTIC ENCEPHALOPATHY Is also known as undetermined eoee

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about UNDETERMINED EARLY-ONSET EPILEPTIC ENCEPHALOPATHY

Medium match HARTNUP DISEASE


Hartnup disease is a rare metabolic disorder belonging to the neutral aminoacidurias and characterized by abnormal renal and gastrointestinal transport of neutral amino acids (tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine).

HARTNUP DISEASE Is also known as aminoaciduria, hartnup type|hartnup disease|hartnup disorder

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about HARTNUP DISEASE

Medium match HEREDITARY FOLATE MALABSORPTION


Hereditary folate malabsorption (HFM) is an inherited disorder of folate transport characterized by a systemic and central nervous system (CNS) folate deficiency manifesting as megaloblastic anemia, failure to thrive, diarrhea and/or oral mucositis, immunologic dysfunction and neurological disorders.

HEREDITARY FOLATE MALABSORPTION Is also known as congenital folate malabsorption

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about HEREDITARY FOLATE MALABSORPTION

Medium match MENTAL RETARDATION, AUTOSOMAL DOMINANT 40; MRD40


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 40; MRD40

Top 5 symptoms//phenotypes associated to Ataxia and Gastroesophageal reflux

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Generalized hypotonia Very Common - Between 80% and 100% cases
Global developmental delay Very Common - Between 80% and 100% cases
Seizures Common - Between 50% and 80% cases
Spasticity Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Ataxia and Gastroesophageal reflux. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Gait ataxia

Uncommon Symptoms - Between 30% and 50% cases


Microcephaly Hypertonia Absent speech Hyperreflexia Aspiration Short stature Constipation Tremor Postnatal microcephaly Dysarthria Hypoplasia of the corpus callosum Nystagmus Recurrent respiratory infections High palate Strabismus Fever Apnea Gait disturbance Anxiety Encephalopathy

Rare Symptoms - Less than 30% cases


Neonatal hypotonia Thick lower lip vermilion Stereotypy Irritability Developmental regression Epileptic encephalopathy Dyskinesia Pes planus Autism Dystonia Motor delay Scoliosis Delayed speech and language development Recurrent upper respiratory tract infections EEG abnormality Chronic diarrhea Delayed myelination Respiratory tract infection Failure to thrive Abnormal facial shape Glossitis Dysmetria Feeding difficulties Epicanthus Behavioral abnormality Athetosis Hyperactivity Aggressive behavior Cerebellar atrophy Autistic behavior Impaired social interactions Short philtrum Bruxism Involuntary movements Low-set ears Hypertelorism Hypermetropia Cerebellar hypoplasia Diarrhea Unsteady gait Muscular hypotonia of the trunk Pointed chin Malabsorption Long face Chorea Poor speech Muscular hypotonia Abnormality of movement Talipes equinovarus Abnormality of vision Multifocal seizures Encephalitis Focal clonic seizures Status epilepticus Choreoathetosis Aminoaciduria Cyanosis Hypodontia Abnormality of eye movement Generalized tonic-clonic seizures Emotional lability Segmental myoclonic seizures Hypoplastic hippocampus Insomnia Hippocampal atrophy Hypopigmented skin patches Cirrhosis Ptosis Skin rash Hepatic steatosis Migraine Vertigo Irregular hyperpigmentation Confusion Aciduria Abnormal blistering of the skin Abnormality of the eye Cognitive impairment Photophobia Depressivity Headache Psychosis Cutaneous photosensitivity Inflammatory abnormality of the skin Diplopia Hallucinations Hydrocephalus Peripheral neuropathy Delusions Joint hypermobility Basal ganglia calcification Macrocytic anemia Drowsiness Proximal amyotrophy Megaloblastic anemia Cheilitis Normocytic anemia Oral ulcer Folate deficiency Folate-responsive megaloblastic anemia Pain Upslanted palpebral fissure Neurological speech impairment Everted lower lip vermilion Eosinophilia Brain atrophy Open mouth Plagiocephaly Sleep apnea Tented upper lip vermilion Incoordination Supernumerary nipple Cortical dysplasia Impaired pain sensation Obstructive sleep apnea Facial hypotonia Diastasis recti Tented philtrum Abnormality of the immune system Leukopenia Gingivitis Immunodeficiency Episodic ataxia Methylmalonic aciduria Abnormal urinary color Mood changes Neural tube defect Hyperphenylalaninemia Glabellar reflex Grasp reflex Neutral hyperaminoaciduria Anemia Mesiodens Skeletal muscle atrophy Vomiting Recurrent infections Increased body weight Thrombocytopenia Pneumonia Feeding difficulties in infancy Pallor Nausea and vomiting Neutropenia Sepsis Decreased antibody level in blood Focal-onset seizure Cerebral calcification Pancytopenia Recurrent urinary tract infections Anorexia Short ear Deeply set eye Narrow nasal tip Genu valgum Hypertrichosis Umbilical hernia Cerebral visual impairment Hypoplasia of the brainstem Talipes valgus Growth delay Intellectual disability, severe Kyphosis Myoclonus Postnatal growth retardation Apraxia Astigmatism Pachygyria Progressive microcephaly Drooling Cortical gyral simplification Poor eye contact Breathing dysregulation Inappropriate laughter Tongue thrusting Inguinal hernia Short neck Cerebral atrophy Esotropia Abnormality of the foot Hernia Myokymia Sleep disturbance Fasciculations Muscle stiffness Congenital hip dislocation Joint dislocation Myotonia Loss of consciousness Hypokinesia Atonic seizures Hiatus hernia Esophagitis Exaggerated startle response Arthrogryposis multiplex congenita Nocturnal seizures Falls Hip dislocation Joint stiffness Flexion contracture Visual impairment Myopia Dysphagia Pes cavus Rigidity Severe global developmental delay Areflexia Brachycephaly Poor motor coordination Broad nasal tip Intellectual disability, mild Long philtrum Cerebral cortical atrophy Narrow mouth Frequent falls Protruding ear Abnormal pyramidal sign Broad forehead Bulbous nose Wide nose Generalized myoclonic seizures Anteverted nares Memory impairment Intention tremor Depressed nasal ridge Infantile muscular hypotonia Brisk reflexes Palpebral edema Large forehead Abnormal cortical gyration Positive Romberg sign Nonprogressive cerebellar ataxia Abnormal social behavior Edema Downslanted palpebral fissures Spastic paraplegia Fatigue Paraplegia Full cheeks Round face Dental crowding Spastic gait Low anterior hairline Mild short stature Broad neck Hypomimic face Central apnea Micrognathia Joint laxity Macrocephaly Hyperlordosis Wide mouth Attention deficit hyperactivity disorder Pectus carinatum Thick vermilion border Abnormal cerebellum morphology Underdeveloped nasal alae Hypotelorism Short palpebral fissure Self-injurious behavior Obsessive-compulsive behavior Abnormality of the renal collecting system



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