Ataxia, and Intellectual disability, profound

Diseases related with Ataxia and Intellectual disability, profound

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


Top matches:

Medium match GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY


Guanidinoacetate methyltransferase (GAMT) deficiency is a creatine deficiency syndrome characterized by global developmental delay/intellectual disability (DD/ID), prominent speech delay, autistic/hyperactive behavioral disorders, seizures, and various types of pyramidal and/or extra-pyramidal manifestations.

GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY Is also known as gamt deficiency|creatine deficiency syndrome due to gamt deficiency|guanidinoacetate methyltransferase deficiency

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY

Medium match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 38; EIEE38


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 38; EIEE38

Medium match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 53; MRT53


Autosomal recessive mental retardation-53 is a neurodevelopmental disorder characterized by severely delayed psychomotor development, hypotonia apparent since infancy, and early-onset seizures in most patients. Some patients may have additional features, such as cerebellar hypoplasia and ataxia. MRT53 is one of a group of similar neurologic disorders resulting from biochemical defects in the glycosylphosphatidylinositol (GPI) biosynthetic pathway (summary by Makrythanasis et al., 2016).For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (OMIM ).

MENTAL RETARDATION, AUTOSOMAL RECESSIVE 53; MRT53 Is also known as glycosylphosphatidylinositol biosynthesis defect 13|gpibd13

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 53; MRT53

Mendelian

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

Learn more

Other less relevant matches:

Medium match AUTOSOMAL RECESSIVE CONGENITAL CEREBELLAR ATAXIA DUE TO MGLUR1 DEFICIENCY


Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency is a rare, genetic, slowly progressive neurodegenerative disease resulting from MGLUR1 deficiency characterized by global developmental delay (beginning in infancy), mild to severe intellectual deficit with poor or absent speech, moderate to severe stance and gait ataxia, pyramidal signs (e.g. hyperreflexia) and mild dysdiadochokinesia, dysmetria, tremors, and/or dysarthria. Oculomotor signs, such as nystagmus, strabismus, ptosis and hypometric saccades, may also be associated. Brain imaging reveals progressive, generalized, moderate to severe cerebellar atrophy, inferior vermian hypoplasia, and/or constitutionally small brain.

AUTOSOMAL RECESSIVE CONGENITAL CEREBELLAR ATAXIA DUE TO MGLUR1 DEFICIENCY Is also known as autosomal recessive spinocerebellar ataxia type 13|scar13|autosomal recessive congenital cerebellar ataxia due to metabotropic glutamate receptor 1 deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE CONGENITAL CEREBELLAR ATAXIA DUE TO MGLUR1 DEFICIENCY

Medium match PONTOCEREBELLAR HYPOPLASIA, TYPE 2D; PCH2D


PCH2D is an autosomal recessive disorder characterized by progressive microcephaly, postnatal onset of progressive atrophy of the cerebrum and cerebellum, profound mental retardation, spasticity, and variable seizures (summary by Ben-Zeev et al., 2003).For a general phenotypic description and a discussion of genetic heterogeneity of pontocerebellar hypoplasia type 2, see PCH2A (OMIM ).

PONTOCEREBELLAR HYPOPLASIA, TYPE 2D; PCH2D Is also known as pcca|cerebellocerebral atrophy, progressive

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA, TYPE 2D; PCH2D

Medium match LISSENCEPHALY 3; LIS3


Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about LISSENCEPHALY 3; LIS3

Medium match LISSENCEPHALY, X-LINKED, 1; LISX1


Lissencephaly ('smooth brain') results from migrational arrest of cortical neurons short of their normal destination, and can result in profound mental retardation and seizures. In X-linked lissencephaly-1, affected males generally have more a severe phenotype compared to females. DCX mutations cause classic lissencephaly with mental retardation in hemizygous males and a milder phenotype known as subcortical band heterotopia in females, sometimes in the same family. The subcortical lamina heterotopia found in heterozygous females is also referred to as 'double cortex' (DC) syndrome (des Portes et al., 1997).There are several X-linked loci that affect neuronal migration, including the Aicardi locus (OMIM ).

LISSENCEPHALY, X-LINKED, 1; LISX1 Is also known as xlis|lissencephaly and agenesis of corpus callosum

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about LISSENCEPHALY, X-LINKED, 1; LISX1

Medium match CHILDHOOD-ONSET MOTOR AND COGNITIVE REGRESSION SYNDROME WITH EXTRAPYRAMIDAL MOVEMENT DISORDER


CONDBA is a severe progressive neurodegenerative disorder characterized by loss of motor and cognitive skills between ages 2 and 7 years. Affected individuals may have normal development or mild developmental delay, but all eventually lose all motor skills, resulting in inability to walk, absence of language, and profound intellectual disability. Brain imaging shows progressive cerebral and cerebellar atrophy (summary by Edvardson et al., 2017).

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CHILDHOOD-ONSET MOTOR AND COGNITIVE REGRESSION SYNDROME WITH EXTRAPYRAMIDAL MOVEMENT DISORDER

Medium match DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6; DKCB6


Autosomal recessive dyskeratosis congenita-6 is a bone marrow failure disorder associated with abnormal skin pigmentation, nail dystrophy, oral leukoplakia, microcephaly, and developmental delay (summary by Tummala et al., 2015).For a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6; DKCB6

Medium match WEST SYNDROME


West syndrome (or infantile spasms) is characterised by the association of clusters of axial spasms, psychomotor retardation and an hypsarrhythmic interictal EEG pattern. It is the most frequent type of epileptic encephalopathy. It may occur in otherwise healthy infants and in those with abnormal cognitive development.

WEST SYNDROME Is also known as intellectual disability-hypsarrhythmia syndrome|infantile spasm syndrome, x-linked 1|xmesid|west syndrome, x-linked|ohtahara syndrome, x-linked|infantile spasms|infantile epileptic-dyskinetic encephalopathy|issx1

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about WEST SYNDROME

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

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Seizures Very Common - Between 80% and 100% cases
Global developmental delay Very Common - Between 80% and 100% cases
Generalized hypotonia Common - Between 50% and 80% cases
Hypertonia 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, profound. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Microcephaly Spasticity Absent speech Hypoplasia of the corpus callosum Abnormal pyramidal sign Muscular hypotonia of the trunk Dystonia Cerebellar hypoplasia Dysarthria Chorea Cerebellar atrophy Lissencephaly Ventriculomegaly Delayed speech and language development Hyperreflexia Intellectual disability, severe

Rare Symptoms - Less than 30% cases


Spastic tetraplegia Low-set ears Dyskinesia Brain atrophy Developmental regression Dysphagia Abnormality of neuronal migration Agyria Feeding difficulties Motor delay Intellectual disability, mild Failure to thrive Micropenis Growth delay Pachygyria Heterotopia Progressive microcephaly Agenesis of corpus callosum Ptosis Myoclonus Hypsarrhythmia Epileptic encephalopathy Intrauterine growth retardation Cerebral atrophy Encephalopathy Visual impairment Status epilepticus Hyperactivity Nystagmus Short stature Abnormality of movement Generalized-onset seizure Axonal loss High pitched voice Microphallus Impulsivity Type I lissencephaly Language impairment Increased body weight Peripheral demyelination Cerebral cortical atrophy Premature birth Subependymal nodules Behavioral abnormality Gliosis Motor deterioration Postural instability Neurodegeneration Inability to walk Autistic behavior Mental deterioration Rigidity Parkinsonism Muscular hypotonia Anarthria Dyspnea Spastic ataxia Developmental stagnation Epileptic spasms Muscle fibrillation Infantile spasms Global brain atrophy Hyperkinesis Spastic tetraparesis Choreoathetosis Tetraparesis Generalized myoclonic seizures Poor speech Abnormality of the nervous system Epicanthus Scoliosis Cognitive impairment Oral leukoplakia CNS hypomyelination Bone marrow hypocellularity Fine hair Pancytopenia Abnormality of skin pigmentation Carious teeth Nail dystrophy Sparse hair Alopecia Constipation Midface retrusion Narrow forehead Spontaneous abortion Abnormal facial shape Sloping forehead Functional motor deficit Postnatal microcephaly Delayed myelination Sleep disturbance Hyporeflexia Irritability Flexion contracture Severe muscular hypotonia EEG with focal spikes Abnormality of ocular abduction Inferior vermis hypoplasia Retrocerebellar cyst Limb dysmetria Clonus Gaze-evoked horizontal nystagmus Difficulty standing Hypometric saccades Dysdiadochokinesis Horizontal nystagmus Esotropia Polyneuropathy Dysmetria Abnormality of eye movement Neurological speech impairment Pes planus Gait ataxia Central hypotonia Progressive spasticity Bulbous nose Self-mutilation Severe global developmental delay Postnatal growth retardation Tremor Involuntary movements Absence seizures Esodeviation Congenital microcephaly Hemianopia Cerebellar dysplasia Cortical dysplasia Infantile muscular hypotonia Hypoplasia of the brainstem Cerebral visual impairment Cerebellar vermis atrophy Progressive extrapyramidal movement disorder Hemiparesis Cerebellar vermis hypoplasia Focal-onset seizure Tetraplegia Polymicrogyria Retinal dystrophy Dilatation Blindness Strabismus Limb joint contracture Abnormality of the periventricular white matter Abnormality of skin morphology



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Ventricular septal defect and Alopecia, related diseases and genetic alterations Fever and Leukodystrophy, related diseases and genetic alterations Obesity and Lymphopenia, related diseases and genetic alterations Nystagmus and Cerebellar vermis hypoplasia, related diseases and genetic alterations Cataract and Cirrhosis, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more