Ataxia, and Hypoplasia of the corpus callosum

Diseases related with Ataxia and Hypoplasia of the corpus callosum

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


Top matches:

Medium match LEUKODYSTROPHY, HYPOMYELINATING, 11; HLD11


Hypomyelinating leukodystrophy-11 is an autosomal recessive neurologic disorder characterized by delayed psychomotor development and other neurologic features associated with hypomyelination on brain imaging. Some patients may have additional nonneurologic features, particularly dental abnormalities and possibly hypogonadotropic hypogonadism (summary by Thiffault et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of HLD, see {312080}.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Ataxia
  • Spasticity
  • Myopia


SOURCES: OMIM MENDELIAN

More info about LEUKODYSTROPHY, HYPOMYELINATING, 11; HLD11

Medium match JOUBERT SYNDROME 31; JBTS31


Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus
  • Strabismus


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 31; JBTS31

Medium match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 45; EIEE45


Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Visual impairment


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 45; EIEE45

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Other less relevant matches:

Medium match SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 22; SCAR22


Related symptoms:

  • Intellectual disability
  • Ataxia
  • Nystagmus
  • Spasticity
  • Hyperreflexia


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 22; SCAR22

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

Medium match BENIGN FAMILIAL NEONATAL-INFANTILE SEIZURES


Benign familial neonatal-infantile seizures (BFNIS) is a benign familial epilepsy syndrome with an intermediate phenotype between benign familial neonatal seizures (BFNS) and benign familial infantile seizures (BFIS; see these terms). So far, this syndrome has been described in multiple members of 10 families. Age of onset in these BFNIS families varied from 2 days to 6 months, with spontaneous resolution in most cases before the age of 12 months. Like BFNS and BFIS, seizures in BFNIS generally occur in clusters over one or a few days with posterior focal seizure onset. BFNIS is caused by mutations in the SCN2A gene (2q24.3), encoding the voltage-gated sodium channel alpha-subunit Na(V)1.2. Transmission is autosomal dominant.

BENIGN FAMILIAL NEONATAL-INFANTILE SEIZURES Is also known as bfnis|benign neonatal-infantile epilepsy

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about BENIGN FAMILIAL NEONATAL-INFANTILE SEIZURES

Medium match NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 7; NBIA7


Related symptoms:

  • Generalized hypotonia
  • Ataxia
  • Nystagmus
  • Spasticity
  • Delayed speech and language development


SOURCES: OMIM MENDELIAN

More info about NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 7; NBIA7

Medium match LEUKODYSTROPHY, HYPOMYELINATING, 16; HLD16


Hypomyelinating leukodystrophy-16 is an autosomal dominant neurologic disorder characterized by onset of hypotonia, nystagmus, and mildly delayed motor development in infancy. Affected individuals have motor disabilities, including ataxic or broad-based gait, hyperreflexia, intention tremor, dysmetria, and a mild pyramidal syndrome. Some patients have cognitive impairment, whereas others may have normal cognition or mild intellectual disability with speech difficulties. Brain imaging typically shows hypomyelination, leukodystrophy, and thin corpus callosum (summary by Simons et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of hypomyelinating leukodystrophy, see {312080}.

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about LEUKODYSTROPHY, HYPOMYELINATING, 16; HLD16

Medium match PROGRESSIVE AUTOSOMAL RECESSIVE ATAXIA-DEAFNESS SYNDROME


Lichtenstein-Knorr syndrome is an autosomal recessive neurologic disorder characterized by postnatal onset of severe progressive sensorineural hearing loss and progressive cerebellar ataxia. Features usually develop in childhood or young adulthood (summary by Guissart et al., 2015).

PROGRESSIVE AUTOSOMAL RECESSIVE ATAXIA-DEAFNESS SYNDROME Is also known as scar19|progressive autosomal recessive ataxia-sensorineural hearing loss syndrome|lichtenstein-knorr syndrome|spinocerebellar ataxia, autosomal recessive 19

Related symptoms:

  • Seizures
  • Short stature
  • Hearing impairment
  • Ataxia
  • Nystagmus


SOURCES: OMIM ORPHANET MENDELIAN

More info about PROGRESSIVE AUTOSOMAL RECESSIVE ATAXIA-DEAFNESS SYNDROME

Top 5 symptoms//phenotypes associated to Ataxia and Hypoplasia of the corpus callosum

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

Patients with Ataxia and Hypoplasia of the corpus callosum. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Nystagmus

Uncommon Symptoms - Between 30% and 50% cases


Cerebellar atrophy Tremor Dysarthria Motor delay Abnormality of the nervous system Delayed speech and language development Cognitive impairment Spasticity Dystonia

Rare Symptoms - Less than 30% cases


Cerebellar hypoplasia Gait ataxia Loss of ability to walk Unsteady gait Hyperreflexia Abnormal pyramidal sign Cerebral atrophy Progressive cerebellar ataxia Muscular hypotonia of the trunk Intention tremor Absent speech Gait disturbance Truncal ataxia Epileptic encephalopathy CNS hypomyelination Hypsarrhythmia Encephalopathy Leukodystrophy Broad-based gait Vertigo Limb ataxia Spastic tetraparesis Abnormal myelination Myokymia Tetraparesis Dysdiadochokinesis Spastic tetraplegia Tetraplegia Dysphagia Delayed puberty Pes cavus Areflexia Peripheral neuropathy Sensorineural hearing impairment Hearing impairment Delayed ability to walk Short stature Feeding difficulties Hypertonia Rotary nystagmus Intellectual disability, moderate Abnormal cerebellum morphology EEG abnormality Hyperactivity Myopia Abnormality of the dentition Hypogonadism Strabismus Ventriculomegaly Abnormality of eye movement Oculomotor apraxia Molar tooth sign on MRI Visual impairment Developmental regression Cerebral visual impairment Rigidity Myoclonus Inability to walk Generalized myoclonic seizures Vegetative state Falls Lower limb spasticity Intrauterine growth retardation Hyporeflexia Intellectual disability, profound Severe muscular hypotonia EEG with focal spikes Intellectual disability, severe Intellectual disability, mild Action tremor



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