Intellectual disability, and Polymicrogyria

Diseases related with Intellectual disability and Polymicrogyria

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

Top matches:

Familial focal epilepsy with variable foci (FFEVF) is an autosomal dominant form of epilepsy characterized by focal seizures arising from different cortical regions, including the temporal, frontal, parietal, and occipital lobes. Seizure types commonly include temporal lobe epilepsy (TLE), frontal lobe epilepsy (FLE), and nocturnal frontal lobe epilepsy (NFLE). A subset of patients have structural brain abnormalities, particularly focal cortical dysplasia (FCD). There is significant incomplete penetrance, with many unaffected mutation carriers within a family (summary by Ricos et al., 2016).For a discussion of genetic heterogeneity of FFEVF, see FFEVF1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Neoplasm
  • Polymicrogyria
  • Focal-onset seizure


SOURCES: OMIM MENDELIAN

More info about EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 2; FFEVF2

Autosomal recessive bilateral perisylvian polymicrogyria is characterized by strikingly restricted polymicrogyria limited to the cortex surrounding the Sylvian fissure. Affected individuals have intellectual and language difficulty and seizures, but no motor disability (Bae et al., 2014).

POLYMICROGYRIA, BILATERAL PERISYLVIAN, AUTOSOMAL RECESSIVE; BPPR Is also known as pmgr

Related symptoms:

  • Intellectual disability
  • Seizures
  • Nystagmus
  • Polymicrogyria
  • Esotropia


SOURCES: OMIM MENDELIAN

More info about POLYMICROGYRIA, BILATERAL PERISYLVIAN, AUTOSOMAL RECESSIVE; BPPR

Polymicrogyria (PMG) is a malformation of cortical development in which the brain surface is irregular and the normal gyral pattern replaced by multiple small, partly fused gyri separated by shallow sulci. Microscopic examination shows a simplified 4-layered or unlayered cortex. Several patterns of PMG, including bilateral frontal, bilateral perisylvian, and bilateral mesial occipital PMG, have been described on the basis of their topographic distribution. All but the perisylvian form appear to be rare. Bilateral perisylvian PMG (BPP) often results in a typical clinical syndrome that is manifested by mild mental retardation, epilepsy, and pseudobulbar palsy, which causes difficulties with expressive speech and feeding (Kuzniecky et al., 1993).PMG may be a feature of other conditions as well (see, e.g., {300643}).

BILATERAL PERISYLVIAN POLYMICROGYRIA Is also known as perisylvian syndrome, congenital bilateral|bpp|cbps|pmgx

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Cognitive impairment
  • Delayed speech and language development


SOURCES: OMIM ORPHANET MENDELIAN

More info about BILATERAL PERISYLVIAN POLYMICROGYRIA

Other less relevant matches:

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6; CDCBM6

Related symptoms:

  • Intellectual disability
  • Seizures
  • Delayed speech and language development
  • Hyperreflexia
  • Intellectual disability, mild


SOURCES: OMIM MESH MENDELIAN

More info about ROLANDIC EPILEPSY, MENTAL RETARDATION, AND SPEECH DYSPRAXIA, X-LINKED; RESDX

Early infantile epileptic encephalopathy-8 is an X-linked disorder characterized by seizure onset before 2 years of age and severe developmental delay. Some patients have hyperekplexia (summary by Shimojima et al., 2011).For general phenotypic descriptions and discussions of genetic heterogeneity of early infantile epileptic encephalopathy and hyperekplexia, see EIEE1 (OMIM ) and hereditary hyperekplexia (OMIM ), respectively.

HYPEREKPLEXIA-EPILEPSY SYNDROME Is also known as hyperekplexia and epilepsy

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Intellectual disability, severe
  • Hypertonia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about HYPEREKPLEXIA-EPILEPSY SYNDROME

Medium match BAND HETEROTOPIA; BH

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about BAND HETEROTOPIA; BH

Chudley-McCullough syndrome is a rare, genetic, syndromic deafness characterized by severe to profound, bilateral, sensorineural hearing loss (congenital or rapidly progressive in infancy) associated with a complex brain malformation including hydrocephalus, varying degrees of partial corpus callosum agenesis, colpocephaly, cerebral and cerebellar cortical dysplasia (bilateral medial frontal polymicrogyria, bilateral frontal subcortical heteropia) and, in some, arachnoid cysts. Major physical abnormalities or psychomotor delay are usually not associated.

CHUDLEY-MCCULLOUGH SYNDROME Is also known as dfnb82, formerly|deafness, sensorineural, with partial agenesis of the corpus callosum and arachnoid cysts|deafness, autosomal recessive 82, formerly

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CHUDLEY-MCCULLOUGH SYNDROME

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 57; MRT57

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Cryptorchidism
  • Ventriculomegaly


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 103; MRX103

Top 5 symptoms//phenotypes associated to Intellectual disability and Polymicrogyria

Symptoms // Phenotype % cases
Seizures Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Perisylvian polymicrogyria Uncommon - Between 30% and 50% cases
Heterotopia Uncommon - Between 30% and 50% cases
Intellectual disability, mild Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Intellectual disability and Polymicrogyria. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Delayed speech and language development Ventriculomegaly Focal-onset seizure Cortical dysplasia

Rare Symptoms - Less than 30% cases

Hyperreflexia Absent speech Cerebellar hypoplasia Hydrocephalus Microcephaly Intellectual disability, severe Hypertonia Generalized hypotonia Macrocephaly Agenesis of corpus callosum Wide mouth Sensorineural hearing impairment Abnormal facial shape Partial agenesis of the corpus callosum Hearing impairment Profound global developmental delay Hypoplasia of the corpus callosum Sleep disturbance Dilatation Bilateral sensorineural hearing impairment Congenital sensorineural hearing impairment Anteverted nares Cerebellar dysplasia Severe sensorineural hearing impairment Autistic behavior Micropenis Delayed ability to walk Coarse facial features Febrile seizures Generalized myoclonic seizures Inability to walk Muscular hypotonia of the trunk Arachnoid cyst Autism Cerebral cortical atrophy Large foramen magnum Gray matter heterotopias Prelingual sensorineural hearing impairment Cryptorchidism Colpocephaly Dysplastic corpus callosum Cyanosis Behavioral abnormality Dysphagia Pseudobulbar signs Atypical absence seizures Pseudobulbar paralysis Dyslexia Generalized tonic-clonic seizures Paralysis Dysarthria Ataxia Cognitive impairment Language impairment Esotropia Nystagmus Focal cortical dysplasia Neoplasm Facial tics Microphthalmia Abnormality of the skeletal system Frontoparietal polymicrogyria Spasticity Exaggerated startle response Intellectual disability, progressive Epileptic encephalopathy Encephalopathy Generalized hyperreflexia Speech apraxia Abnormal cerebellum morphology Muscle fibrillation Drooling Clonus Neurological speech impairment Retinal dysplasia Hypoplasia of the brainstem Short palm


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