Ataxia, and Intellectual disability, mild

Diseases related with Ataxia and Intellectual disability, mild

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


Top matches:

Medium match CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 3; CAMRQ3


Cerebellar ataxia, mental retardation, and dysequilibrium syndrome (CAMRQ) is a genetically heterogeneous disorder characterized by congenital cerebellar ataxia and mental retardation (summary by Gulsuner et al., 2011).For a discussion of genetic heterogeneity of CAMRQ, see CAMRQ1 (OMIM ).

CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 3; CAMRQ3 Is also known as cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3

Related symptoms:

  • Intellectual disability
  • Ataxia
  • Strabismus
  • Dysarthria
  • Tremor


SOURCES: OMIM MESH MENDELIAN

More info about CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 3; CAMRQ3

Medium match BILE ACID SYNTHESIS DEFECT, CONGENITAL, 6; CBAS6


Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Ataxia
  • Delayed speech and language development
  • Hepatomegaly


SOURCES: OMIM MENDELIAN

More info about BILE ACID SYNTHESIS DEFECT, CONGENITAL, 6; CBAS6

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Medium match TYROSINEMIA TYPE 3


Tyrosinemia type 3 is an inborn error of tyrosine metabolism characterised by mild hypertyrosinemia and increased urinary excretion of 4-hydroxyphenylpyruvate, 4-hydroxyphenyllactate and 4-hydroxyphenylacetate.

TYROSINEMIA TYPE 3 Is also known as tyrosinemia due to 4-hydroxyphenylpyruvic acid oxidase deficiency|4-hydroxyphenylpyruvic acid oxidase deficiency|tyrosinemia type iii|4-hydroxyphenylpyruvate dioxygenase deficiency|tyrosinemia due to 4-hydroxyphenylpyruvate dioxygenase deficiency|tyrosine

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ataxia
  • Cognitive impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about TYROSINEMIA TYPE 3

Medium match FAMILIAL INFANTILE MYOCLONIC EPILEPSY


FAMILIAL INFANTILE MYOCLONIC EPILEPSY Is also known as fime|eim|familial infantile myoclonus epilepsy

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ataxia
  • Dysarthria


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL INFANTILE MYOCLONIC EPILEPSY

Medium match AUTOSOMAL RECESSIVE ATAXIA DUE TO PEX10 DEFICIENCY


AUTOSOMAL RECESSIVE ATAXIA DUE TO PEX10 DEFICIENCY Is also known as mild peroxismal disorder due to pex10 deficiency

Related symptoms:

  • Global developmental delay
  • Hyperreflexia
  • Dysarthria
  • Intellectual disability, mild
  • Pes cavus


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE ATAXIA DUE TO PEX10 DEFICIENCY

Medium match 2-AMINOADIPIC 2-OXOADIPIC ACIDURIA


2-aminoadipic 2-oxoadipic aciduria is a rare disorder of lysine and hydroxylysine metabolism characterized by variable clinical presentation including hypotonia, developmental delay, mild to severe intellectual disability, ataxia, epilepsy and behavioral disorders, most commonly attention deficit hyperactivity disorder. Frequently, individuals are completely without clinical phenotype.

2-AMINOADIPIC 2-OXOADIPIC ACIDURIA Is also known as alpha-aminoadipic aciduria

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about 2-AMINOADIPIC 2-OXOADIPIC ACIDURIA

Medium match MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS


Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a form of leukodystrophy that is characterized by infantile-onset macrocephaly, often with mild neurologic signs at presentation (such as mild motor delay), which worsen with time, leading to poor ambulation, falls, ataxia, spasticity, increasing seizures and cognitive decline. Brain magnetic resonance imaging reveals diffusely abnormal and mildly swollen white matter as well as subcortical cysts in the anterior temporal and frontoparietal regions.

MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS Is also known as mlc|megalencephaly-cystic leukodystrophy syndrome|van der knaap disease|vl|vacuolating megalencephalic leukoencephalopathy with subcortical cysts|van der knaap syndrome|lvm|megalencephalic leukodystrophy|leukoencephalopathy with swelling and cysts

Related symptoms:

  • Seizures
  • Ataxia
  • Spasticity
  • Delayed speech and language development
  • Motor delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS

Medium match SPECTRIN-ASSOCIATED AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA


Spectrin-associated autosomal recessive cerebellar ataxia is a rare, genetic neurological disease, due to SPTBN2 mutations, characterized by global development delay in infancy, followed by childhood-onset gait ataxia with limb dysmetria and dysdiadochokinesia, mild to severe intellectual disability, development of cerebellar atrophy, and abnormal eye movements (including a convergent squint, hypometric saccades, jerky pursuit movements and incomplete range of movement).

SPECTRIN-ASSOCIATED AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA Is also known as infantile-onset spinocerebellar ataxia-psychomotor delay syndrome|cerebellar ataxia, autosomal recessive, spectrin-associated, 1|ataxie spinocÉrÉbelleuse À dÉbut infantile avec retard psychomoteur|spectrin-associated autosomal recessive cerebellar ataxia

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Ataxia
  • Nystagmus
  • Strabismus


SOURCES: ORPHANET OMIM MENDELIAN

More info about SPECTRIN-ASSOCIATED AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA

Medium match SPINOCEREBELLAR ATAXIA TYPE 29


Spinocerebellar ataxia type 29 (SCA29) is a rare subtype of autosomal dominant cerebellar ataxia type I (ADCA type I; see this term) characterized by very slowly progressive or non-progressive ataxia, dysarthria, oculomotor abnormalities and intellectual disability.

SPINOCEREBELLAR ATAXIA TYPE 29 Is also known as cnpca|aplasia of cerebellar vermis|congenital nonprogressive spinocerebellar ataxia|cerebellar vermis aplasia|sca29|cerebellar ataxia, congenital nonprogressive, autosomal dominant|acv

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 29

Top 5 symptoms//phenotypes associated to Ataxia and Intellectual disability, mild

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Dysarthria Uncommon - Between 30% and 50% cases
Delayed speech and language development Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with Ataxia and Intellectual disability, mild. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Motor delay Truncal ataxia Dysmetria Progressive cerebellar ataxia Hyperreflexia Nystagmus Cognitive impairment Gait ataxia Slurred speech Tremor

Rare Symptoms - Less than 30% cases


Intention tremor Broad-based gait Spasticity Horizontal nystagmus Dysdiadochokinesis Mental deterioration Cerebellar atrophy Cerebellar hypoplasia Delayed fine motor development Abnormal cerebellum morphology Focal-onset seizure Generalized hypotonia Strabismus Attention deficit hyperactivity disorder Limb ataxia Oculomotor apraxia Progressive gait ataxia Abnormality of the nervous system Diffuse cerebellar atrophy Abnormality of the cerebral white matter Dystonia Progressive neurologic deterioration Aciduria Dysphagia Macrocephaly Aminoaciduria Delayed social development Muscular hypotonia Microcephaly Abnormality of phytanic acid metabolism Very long chain fatty acid accumulation Leukodystrophy Diffuse swelling of cerebral white matter Leukoencephalopathy Poor speech Nonprogressive cerebellar ataxia Abnormal saccadic eye movements Titubation Agenesis of cerebellar vermis Cerebellar vermis atrophy Gaze-evoked nystagmus Focal impaired awareness seizure Delayed gross motor development Cerebral palsy Unsteady gait Truncal titubation Jerky ocular pursuit movements Megalencephaly Dysmetric saccades Hypometric saccades Diplopia Abnormality of extrapyramidal motor function Sensory impairment Abnormality of eye movement Abnormality of the eye Diffuse spongiform leukoencephalopathy Vertical nystagmus Abnormal muscle tone Motor deterioration Abnormal head movements Photosensitive tonic-clonic seizures Mydriasis Vitamin D deficiency Central scotoma Optic neuropathy Optic disc pallor Generalized-onset seizure Pallor Photophobia Reduced visual acuity Optic atrophy Peripheral neuropathy Hypolipidemia Vertical supranuclear gaze palsy Abnormality of the liver Fat malabsorption Steatorrhea Cholestasis Hepatic steatosis Cirrhosis Malabsorption Elevated hepatic transaminase Hepatomegaly Frequent falls Falls Intellectual disability, severe Hepatitis Motor axonal neuropathy Febrile seizures Impaired smooth pursuit Type II diabetes mellitus Abnormal pyramidal sign Pes cavus EEG with irregular generalized spike and wave complexes Leber optic atrophy Muscle fibrillation Language impairment Absence seizures Clumsiness Generalized myoclonic seizures Decreased liver function Generalized tonic-clonic seizures Irritability Developmental regression Aggressive behavior Myoclonus Gait disturbance 4-Hydroxyphenylacetic aciduria 4-Hydroxyphenylpyruvic aciduria Hypertyrosinemia Drowsiness Visual fixation instability



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Autoimmunity and Spina bifida, related diseases and genetic alterations Dysarthria and Abnormal bleeding, related diseases and genetic alterations Hepatomegaly and Nephrolithiasis, related diseases and genetic alterations Hyperreflexia and Colitis, related diseases and genetic alterations Failure to thrive and High, narrow palate, related diseases and genetic alterations Micrognathia and Small for gestational age, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more