Intellectual disability, and Ventriculomegaly

Diseases related with Intellectual disability and Ventriculomegaly

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

Top matches:

Pyridoxine-dependent epilepsy (PDE) is a rare neurometabolic disease characterized by recurrent intractable seizures in the prenatal, neonatal and postnatal period that are resistant to anti-epileptic drugs (AEDs) but that are responsive to pharmacological dosages of pyridoxine (vitamin B6).

PYRIDOXINE-DEPENDENT EPILEPSY Is also known as antiquitin deficiency|vitamin b6-dependent seizures

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Strabismus
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about PYRIDOXINE-DEPENDENT EPILEPSY

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Nystagmus
  • Muscular hypotonia
  • Ventriculomegaly


SOURCES: MESH OMIM MENDELIAN

More info about CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 2; CPSQ2

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. The phenotype includes the alternative clinical designation Walker-Warburg syndrome (WWS). The disorder represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239), collectively known as 'dystroglycanopathies' (summary by Manzini et al., 2012).For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 8; MDDGA8 Is also known as walker-warburg syndrome or muscle-eye-brain disease, gtdc2-related

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Ventriculomegaly
  • Hydrocephalus


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 8; MDDGA8

Other less relevant matches:

Megalencephalic leukoencephalopathy with subcortical cysts-2A is an autosomal recessive neurodegenerative disorder characterized by infantile-onset macrocephaly and later onset of motor deterioration, with ataxia and spasticity, seizures, and cognitive decline of variable severity. Brain MRI shows typical white matter abnormalities, including swelling of the cerebral white matter and subcortical cysts, in all stages of the disease (summary by Lopez-Hernandez et al., 2011).Heterozygous mutations in the HEPACAM gene can cause a similar, but less severe disorder that shows improvement of MRI changes with age (MLC2B ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Spasticity
  • Motor delay


SOURCES: OMIM MENDELIAN

More info about MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A; MLC2A

Medium match B4GALT1-CDG

B4GALT1-CDG is a congenital disorder of glycosylation characterised by macrocephaly due to Dandy-Walker malformation, hydrocephaly, hypotonia, myopathy and coagulation anomalies. To date, only one case has been reported. The syndrome is associated with mutations in the GALT1 gene (localised to region q13 of chromosome 9) leading to a deficiency in the Golgi apparatus enzyme beta-1,4-galactosyl transferase.

B4GALT1-CDG Is also known as carbohydrate deficient glycoprotein syndrome type iid|beta-1,4-galactosyltransferase deficiency|congenital disorder of glycosylation type 2d|cdg2d|cdg iid|congenital disorder of glycosylation type iid|cdgiid|cdg-iid|cdg syndrome type iid

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Muscular hypotonia
  • Macrocephaly


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about B4GALT1-CDG

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

OBHD is a neurodevelopmental disorder characterized by global developmental delay and hyperphagia resulting in obesity. Some patients may develop seizures (summary by Hamdan et al., 2017).

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY; OBHD

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

Porencephaly is a neurologic disorder characterized by fluid-filled cysts or cavities in the brain and is thought to result from disturbed vascular supply leading to cerebral degeneration. Affected individuals typically have hemiplegia, seizures, and intellectual disability, although the severity is variable (summary by Yoneda et al., 2012).For a discussion of genetic heterogeneity of porencephaly, see POREN1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Strabismus
  • Spasticity


SOURCES: OMIM MENDELIAN

More info about PORENCEPHALY 2; POREN2

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

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Macrocephaly Uncommon - Between 30% and 50% cases
Hydrocephalus Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Muscular hypotonia Strabismus Spasticity Cerebral atrophy

Rare Symptoms - Less than 30% cases

Heterotopia Polymicrogyria Agenesis of corpus callosum Spastic tetraplegia Hypoplasia of the corpus callosum Intellectual disability, profound Cerebellar hypoplasia Arachnoid cyst Status epilepticus Tetraplegia Dysplastic corpus callosum Absence seizures Stereotypy Generalized-onset seizure Delayed myelination Unsteady gait Facial asymmetry Severe global developmental delay Obesity Autistic behavior Clumsiness Hemiplegia Delayed speech and language development Growth delay Intracranial hemorrhage Porencephalic cyst Appendicular hypotonia Intraventricular hemorrhage Polyphagia Overweight Poor eye contact Partial agenesis of the corpus callosum Prelingual sensorineural hearing impairment Gray matter heterotopias Cerebellar dysplasia Large foramen magnum Colpocephaly Headache Severe sensorineural hearing impairment Cortical dysplasia Anterior plagiocephaly Coarse facial features Bilateral sensorineural hearing impairment Dilatation Intellectual disability, mild Focal-onset seizure Abnormal facial shape Sensorineural hearing impairment Hearing impairment Congenital sensorineural hearing impairment Abnormality of the skeletal system Failure to thrive Brain atrophy Ataxia Type II lissencephaly Retinal dysplasia Congenital muscular dystrophy Lissencephaly Muscular dystrophy Microphthalmia Cerebral palsy Neurodegeneration Dysarthria Neonatal hypotonia Nystagmus Abnormality of movement Neurological speech impairment EEG abnormality Cerebral cortical atrophy Abnormality of metabolism/homeostasis Hepatomegaly Motor delay Cerebellar atrophy Microcephaly Stroke Profound global developmental delay Sleep disturbance Behavioral abnormality Intellectual disability, severe Stroke-like episode Abnormality of coagulation Abnormality of the coagulation cascade Dandy-Walker malformation Elevated serum creatine phosphokinase Mental deterioration Myopathy Diffuse swelling of cerebral white matter Diffuse white matter abnormalities Motor deterioration Megalencephaly Leukoencephalopathy Progressive neurologic deterioration Progressive cerebellar ataxia Abnormality of the cerebral white matter Cerebral degeneration


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