Intellectual disability, severe, and Gait ataxia

Diseases related with Intellectual disability, severe and Gait ataxia

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

Top matches:

Spinocerebellar ataxia type 21 (SCA21) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive cerebellar ataxia, mild cognitive impairment, postural and/or resting tremor, bradykinesia, and rigidity.

SPINOCEREBELLAR ATAXIA TYPE 21 Is also known as sca21

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 21

Spinocerebellar ataxia type 27 (SCA27) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by early-onset tremor, dyskinesia, and slowly progressive cerebellar ataxia.

SPINOCEREBELLAR ATAXIA TYPE 27 Is also known as sca27|cerebellar ataxia, autosomal dominant, fgf14-related

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Ataxia
  • Nystagmus
  • Strabismus


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 27

Microcephaly, seizures, and developmental delay is an autosomal recessive neurodevelopmental disorder with onset in infancy. There is a range of phenotypic severity: some patients have a disease course consistent with early infantile epileptic encephalopathy (EIEE), whereas others have more well-controlled seizures and a protracted course associated with cerebellar atrophy and peripheral neuropathy (Shen et al., 2010 and Poulton et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (308350).

MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY; MCSZ Is also known as epileptic encephalopathy, early infantile, 10|eiee10

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY; MCSZ

Other less relevant matches:

Dysequilibrium syndrome (DES) is a non-progressive cerebellar disorder characterized by ataxia associated with an intellectual disability, delayed ambulation and cerebellar hypoplasia.

DYSEQUILIBRIUM SYNDROME Is also known as cerebellar ataxia-intellectual disability-dysequilibrium syndrome syndrome|cerebellar hypoplasia, vldlr-associated|non-progressive cerebellar ataxia-intellectual disability syndrome|cerebellar ataxia and mental retardation with or without quadrupedal loco

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about DYSEQUILIBRIUM SYNDROME

High match UROCANIC ACIDURIA

Encephalopathy due to urocanase deficiency is an extremely rare histidine metabolism disorder characterized by urocanic aciduria and other variable manifestations including intellectual deficit and intermittent ataxia in the 4 cases reported to date.

UROCANIC ACIDURIA Is also known as encephalopathy due to urocanase deficiency

Related symptoms:

  • Intellectual disability
  • Short stature
  • Ataxia
  • Nystagmus
  • Dysarthria


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about UROCANIC ACIDURIA

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 2; CAMRQ2 Is also known as cerebellar ataxia and mental retardation with or without quadrupedal locomotion 2

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Ataxia


SOURCES: MESH OMIM MENDELIAN

More info about CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2; CAMRQ2

X-linked intellectual deficit-cerebellar hypoplasia, also known as OPHN1 syndrome, is a rare syndromic form of cerebellar dysgenesis characterized by moderate to severe intellectual deficit and cerebellar abnormalities.

X-LINKED INTELLECTUAL DISABILITY-CEREBELLAR HYPOPLASIA SYNDROME Is also known as oligophrenin-1 syndrome|ophn1 syndrome|mental retardation, x-linked 60, formerly|mrx60, formerly

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY-CEREBELLAR HYPOPLASIA SYNDROME

L-2-hydroxyglutaric aciduria is a primarily neurological form of 2-hydroxyglutaric aciduria (see this term) characterized by psychomotor retardation, cerebellar ataxia and variable macrocephaly or epilepsy.

L-2-HYDROXYGLUTARIC ACIDURIA Is also known as l-2-hga|l-2-hydroxyglutaric acidemia

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about L-2-HYDROXYGLUTARIC ACIDURIA

NDHMSD is a severe neurodevelopmental disorder characterized by profound developmental delay, severe intellectual disability with absent speech, muscular hypotonia, and a hyperkinetic movement disorder. Additional features may include cortical blindness, generalized cerebral atrophy, and seizures (summary by Lemke et al., 2016).

NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT; NDHMSD Is also known as mrd8, formerly|mental retardation, autosomal dominant 8, formerly

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT; NDHMSD

X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (XDIBS), or Pettigrew syndrome is a central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation (see this term), and iron deposition.

X-LINKED INTELLECTUAL DISABILITY-DANDY-WALKER MALFORMATION-BASAL GANGLIA DISEASE-SEIZURES SYNDROME Is also known as mental retardation, x-linked, with dandy-walker malformation, basal ganglia disease, and seizures|mrxs21|mrx59|mental retardation, x-linked 59|mrxs5|mental retardation, x-linked, syndromic, fried type|mrxsf|mental retardation, x-linked, syndromic 21|menta

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY-DANDY-WALKER MALFORMATION-BASAL GANGLIA DISEASE-SEIZURES SYNDROME

Top 5 symptoms//phenotypes associated to Intellectual disability, severe and Gait ataxia

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Ataxia Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Cerebellar atrophy Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Intellectual disability, severe and Gait ataxia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Strabismus

Uncommon Symptoms - Between 30% and 50% cases

Tremor

Common Symptoms - More than 50% cases

Nystagmus

Uncommon Symptoms - Between 30% and 50% cases

Delayed speech and language development Truncal ataxia Cognitive impairment Generalized hypotonia Aggressive behavior Motor delay Muscular hypotonia Dysarthria Short stature Ventriculomegaly Absent speech Spasticity Cerebellar hypoplasia Microcephaly Intellectual disability, moderate Dysmetria Hyperactivity Intention tremor Hypoplasia of the corpus callosum Intellectual disability, progressive Abnormal pyramidal sign Deeply set eye Global brain atrophy Macrocephaly Cerebral cortical atrophy Hyperreflexia Behavioral abnormality Hyporeflexia

Rare Symptoms - Less than 30% cases

Sensorineural hearing impairment Poor speech Febrile seizures Epileptic encephalopathy Hearing impairment Cortical gyral simplification Cryptorchidism Abnormal facial shape Tetraparesis Limb ataxia Neonatal hypotonia Spastic tetraparesis Abnormality of the eye Abnormality of movement Encephalopathy Abnormality of extrapyramidal motor function Broad-based gait Aplasia/Hypoplasia of the cerebellum Dysdiadochokinesis Inability to walk Progressive cerebellar ataxia Aciduria Babinski sign Encephalitis Coarse facial features Micropenis Scoliosis Postural tremor Progressive microcephaly Gaze-evoked nystagmus Gait disturbance Abnormal cerebellum morphology Self-injurious behavior Long face Difficulty walking Prominent nose Focal impaired awareness seizure Intellectual disability, mild Neoplasm Prominent forehead Dysgraphia Peripheral neuropathy Myoclonus Mandibular prognathia Skeletal muscle atrophy Autism Hypotelorism Akinesia Dyskinesia Abnormality of the philtrum High-frequency hearing impairment Morphological abnormality of the pyramidal tract Microphallus Corpus callosum atrophy Neoplasm of the nervous system Organic aciduria Developmental regression Retrocerebellar cyst Atrophy/Degeneration affecting the brainstem Dysphasia Infra-orbital crease Leukoencephalopathy Disorganization of the anterior cerebellar vermis Growth delay Horizontal nystagmus Optic atrophy Leukodystrophy Atrial septal defect Neuronal loss in central nervous system Dystonia Gliosis Hydrocephalus Blindness Ependymoma Involuntary movements Neurodegeneration Generalized-onset seizure Thick vermilion border Wide mouth Protruding ear High forehead Spastic tetraplegia Hypsarrhythmia Status epilepticus Cerebral visual impairment Dandy-Walker malformation Disproportionate tall stature Infantile spasms Atonic seizures Bruxism Dementia Profound global developmental delay Oculogyric crisis Inappropriate crying Flexion contracture Chorea Tetraplegia L-2-hydroxyglutaric aciduria Cerebral atrophy L-2-hydroxyglutaric acidemia Severe demyelination of the white matter Failure to thrive Pain High palate Basal ganglia calcification Feeding difficulties Visual impairment Inguinal hernia Constipation Cerebral calcification EEG abnormality Autistic behavior Pointed chin Abnormality of eye movement Narrow face Joint hypermobility Thick eyebrow Poor eye contact Choreoathetosis Enlarged cisterna magna Short palm Long nose Paroxysmal dyskinesia Sensory axonal neuropathy Hand tremor Impaired smooth pursuit Head tremor Orofacial dyskinesia Dysmetric saccades Abnormality of ocular smooth pursuit Memory impairment Red-green dyschromatopsia Immunodeficiency Polyneuropathy Cataract Abnormality of metabolism/homeostasis Pes planus Arachnodactyly Impaired vibratory sensation Sensory neuropathy Cerebral palsy Impulsivity Rigidity Ophthalmoplegia Parkinsonism Clumsiness Diplopia Fasciculations Apathy Resting tremor Pes cavus Cerebellar vermis atrophy Slow saccadic eye movements Cogwheel rigidity Scanning speech Intermittent microsaccadic pursuits Microsaccadic pursuit Depressivity Pachygyria Abnormality of vision External genital hypoplasia Thin upper lip vermilion Thoracic kyphosis Abnormality of the neck Atrophy of the dentate nucleus Aplasia of the inferior half of the cerebellar vermis Frontal bossing Dilatation Macrotia Attention deficit hyperactivity disorder Cortical dysplasia Short philtrum Neurological speech impairment Triangular face Focal-onset seizure Cerebellar vermis hypoplasia Scrotal hypoplasia Prominent supraorbital ridges Thoracic scoliosis Lissencephaly Hypoplasia of the brainstem Gaze-evoked horizontal nystagmus Toe walking Nonprogressive cerebellar ataxia Recurrent infections Hyperactive deep tendon reflexes Blue irides Fair hair Action tremor Mood changes Heterotopia Abnormality of histidine metabolism Urocanic aciduria Kyphosis Hirsutism Small hand Short foot Brain atrophy Abnormality of the basal ganglia


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