Global developmental delay, and Heterotopia

Diseases related with Global developmental delay and Heterotopia

In the following list you will find some of the most common rare diseases related to Global developmental delay and Heterotopia that can help you solving undiagnosed cases.

Top matches:

Related symptoms:

  • Seizures
  • Global developmental delay
  • Strabismus
  • Delayed speech and language development
  • Hypsarrhythmia


SOURCES: OMIM MENDELIAN

More info about PERIVENTRICULAR NODULAR HETEROTOPIA 6; PVNH6

Familial focal epilepsy with variable foci (FFEVF) is an autosomal dominant form of epilepsy characterized by focal seizures arising from different cortical regions in different family members. Many patients have an aura and show automatisms during the seizures, whereas others may have nocturnal seizures. There is often secondary generalization. Some patients show abnormal interictal EEG, and some patients have intellectual disability or autism spectrum disorders. Seizure onset usually occurs in the first or second decades, although later onset has been reported, and there is phenotypic variability within families. Penetrance of the disorder is incomplete (summary by Klein et al., 2012). Detailed electrophysiologic, brain imaging, and/or histologic studies have indicated that some patients have subtle or clear evidence of focal cortical dysplasia (FCD) (Baulac et al., 2015). Genetic Heterogeneity of Familial Focal Epilepsy With Variable FociSee also FFEVF2 (OMIM ), caused by mutation in the NPRL2 gene (OMIM ) on chromosome 3p21, FFEVF3 (OMIM ), caused by mutation in the NPRL3 gene (OMIM ) on chromosome 16p13, and FFEVF4 (OMIM ), caused by mutation in the SCN3A gene (OMIM ) on chromosome 2q24.

EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1; FFEVF1 Is also known as epilepsy, familial focal, with variable foci|ffevf|fpevf|epilepsy, partial, with variable foci

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Autism
  • Autistic behavior


SOURCES: OMIM MENDELIAN

More info about EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1; FFEVF1

Periventricular nodular heterotopia-8 (PVNH8) is a neurologic disorder characterized by abnormal neuronal migration during brain development, resulting in delayed psychomotor development. Three patients have been reported (Ge et al., 2016).For a phenotypic description and a discussion of genetic heterogeneity of periventricular heterotopia, see PVNH1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Spasticity
  • Delayed speech and language development
  • Hyperactivity


SOURCES: OMIM MENDELIAN

More info about PERIVENTRICULAR NODULAR HETEROTOPIA 8; PVNH8

Other less relevant matches:

Joubert syndrome-23 is an autosomal recessive neurodevelopmental disorder characterized by delayed development, abnormal eye movements, and abnormal breathing pattern associated with a characteristic hindbrain malformation apparent on brain imaging and known as the 'molar tooth sign.' Compared to other forms of Joubert syndrome, the phenotype is relatively mild, and other organ systems are generally not affected (summary by Bachmann-Gagescu et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.

Related symptoms:

  • Global developmental delay
  • Polydactyly
  • Apnea
  • Abnormality of the eye
  • Coloboma


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 23; JBTS23

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
  • Global developmental delay
  • Microcephaly
  • Cataract


SOURCES: OMIM MENDELIAN

More info about CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4; CDCBM4

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

Related symptoms:

  • Seizures
  • Global developmental delay
  • Microcephaly
  • Nystagmus
  • Intrauterine growth retardation


SOURCES: OMIM MENDELIAN

More info about CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3; CDCBM3

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

Lissencephaly-6 is an autosomal recessive neurodevelopmental disorder characterized by severe microcephaly and developmental delay. Brain imaging shows variable malformations of cortical development, including lissencephaly, pachygyria, and hypoplasia of the corpus callosum (summary by Mishra-Gorur et al., 2014).For a general description and a discussion of genetic heterogeneity of lissencephaly, see LIS1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Microcephaly
  • Abnormal facial shape
  • Spasticity


SOURCES: OMIM MENDELIAN

More info about LISSENCEPHALY 6 WITH MICROCEPHALY; LIS6

Top 5 symptoms//phenotypes associated to Global developmental delay and Heterotopia

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Cortical dysplasia Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Polymicrogyria Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Global developmental delay and Heterotopia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Hypoplasia of the corpus callosum Lissencephaly Pachygyria Agenesis of corpus callosum Delayed speech and language development Spasticity Ventriculomegaly

Rare Symptoms - Less than 30% cases

Partial agenesis of the corpus callosum Hydrocephalus Agyria Spastic tetraplegia Cerebellar hypoplasia Dysplastic corpus callosum Cerebellar dysplasia Abnormal facial shape Macrocephaly Arachnoid cyst Hyperreflexia Limb hypertonia Cortical gyral simplification Intellectual disability, severe Sloping forehead Severe global developmental delay Behavioral abnormality Hypertonia Sleep disturbance Profound global developmental delay Nystagmus Intrauterine growth retardation Motor delay Severe sensorineural hearing impairment Spastic paraplegia Paraplegia Hearing impairment Cognitive impairment Large foramen magnum Sensorineural hearing impairment Gray matter heterotopias Prelingual sensorineural hearing impairment Dilatation Bilateral sensorineural hearing impairment Congenital sensorineural hearing impairment Colpocephaly Intellectual disability, mild Autistic behavior Abnormality of the skeletal system Apnea Focal-onset seizure Psychosis Obsessive-compulsive behavior Loss of consciousness Autism Focal sensory seizure Nocturnal seizures Focal cortical dysplasia type IIa Focal cortical dysplasia type I Hyperactivity Attention deficit hyperactivity disorder Delayed myelination Abnormality of neuronal migration Polydactyly Abnormality of the eye Generalized hypotonia Abnormal cerebellum morphology Generalized tonic-clonic seizures Tetraplegia Strabismus Cataract Retinal dysplasia Hypoplasia of the brainstem Microphthalmia Coloboma Ataxia Hypsarrhythmia Breathing dysregulation Molar tooth sign on MRI Tachypnea Abnormality of eye movement Dilation of lateral ventricles


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