Intellectual disability, and Agenesis of corpus callosum

Diseases related with Intellectual disability and Agenesis of corpus callosum

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

Top matches:

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about SECKEL SYNDROME 6; SCKL6

Dihydropteridine reductase (DHPR) deficiency is a severe form of hyperphenylalaninemia (HPA) due to impaired regeneration of tetrahydrobiopterin (BH4) (see this term), leading to decreased levels of neurotransmitters (dopamine, serotonin) and folate in cerebrospinal fluid, and causing neurological symptoms such as psychomotor delay, hypotonia, seizures, abnormal movements, hypersalivation, and swallowing difficulties.

DIHYDROPTERIDINE REDUCTASE DEFICIENCY Is also known as hyperphenylalaninemia due to dihydropteridine reductase deficiency|pku type 2|phenylketonuria type 2

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Dysphagia


SOURCES: ORPHANET MENDELIAN

More info about DIHYDROPTERIDINE REDUCTASE DEFICIENCY

Other less relevant matches:

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

Mirror movements are contralateral involuntary movements that mirror voluntary ones. Whereas mirror movements are occasionally found in normal young children, persistence beyond the age of 10 years is abnormal. Congenital mirror movements tend to persist throughout adulthood and tend to occur more commonly in the upper extremities (summary by Sharafaddinzadeh et al., 2008 and Srour et al., 2010). Some patients with DCC mutations have agenesis of the corpus callosum (Marsh et al., 2017). Genetic Heterogeneity of Mirror MovementsSee also MRMV2 (OMIM ), caused by mutation in the RAD51 gene (OMIM ) on chromosome 15q15, and MRMV3 (OMIM ), caused by mutation in the DNAL4 gene (OMIM ) on chromosome 22q13.

MIRROR MOVEMENTS 1; MRMV1 Is also known as mirror movements 1 and/or agenesis of the corpus callosum|bimanual synergia|mirror movements, congenital

Related symptoms:

  • Pain
  • Delayed speech and language development
  • Intellectual disability, mild
  • Agenesis of corpus callosum
  • Abnormality of the nervous system


SOURCES: OMIM MENDELIAN

More info about MIRROR MOVEMENTS 1; MRMV1

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:

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


SOURCES: OMIM MENDELIAN

More info about GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 2; HGPPS2

Autosomal recessive spastic paraplegia type 67 is an extremely rare, complex hereditary spastic paraplegia characterized by an infancy or childhood onset of global developmental delay and progressive spasticity with tremor in the distal limbs, increased deep tendon reflexes and extensor plantar responses, which may be associated with mild intellectual disability. Additional features include muscle wasting and cerebellar abnormalities.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 67 Is also known as spg67

Related symptoms:

  • Global developmental delay
  • Hyperreflexia
  • Intellectual disability, mild
  • Babinski sign
  • Agenesis of corpus callosum


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 67

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

Autosomal recessive spastic paraplegia type 69 is a rare, complex hereditary spastic paraplegia disorder characterized by infantile onset of progressive lower limb spasticity, global developmental delay, hyperreflexia, clonus and extensor plantar reflexes, associated with dysarthria, intellectual disability, cataracts and hearing impairment.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 69 Is also known as spg69

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Cataract
  • Intellectual disability, mild
  • Agenesis of corpus callosum


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 69

Top 5 symptoms//phenotypes associated to Intellectual disability and Agenesis of corpus callosum

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability, mild Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases
Cerebral cortical atrophy Rare - less than 30% cases

Other less frequent symptoms

Patients with Intellectual disability and Agenesis of corpus callosum. may also develop some of the following symptoms:

Rare Symptoms - Less than 30% cases

Ventriculomegaly Abnormality of movement Partial agenesis of the corpus callosum Bimanual synkinesia Generalized hypotonia Macrocephaly Polymicrogyria Hydrocephalus Progressive spastic paraplegia Hearing impairment Aplasia/Hypoplasia of the cerebellar vermis Hyperreflexia Abnormal myelination Heterotopia Lower limb spasticity Spasticity Abnormality of the nervous system Delayed speech and language development Hypoplasia of the corpus callosum Bilateral sensorineural hearing impairment Hand tremor Spastic gait Generalized amyotrophy Cataract Limb tremor Large foramen magnum Gray matter heterotopias Prelingual sensorineural hearing impairment Dysplastic corpus callosum Congenital sensorineural hearing impairment Sensorineural hearing impairment Abnormal facial shape Cerebellar dysplasia Colpocephaly Dilatation Arachnoid cyst Severe sensorineural hearing impairment Cortical dysplasia Cerebellar hypoplasia Profound global developmental delay Difficulty walking CNS hypomyelination Short stature Motor delay Dysphagia Ataxia Myopia Tremor Cerebellar atrophy Abnormality of the dentition Hypogonadism Leukodystrophy Pain Babinski sign Clumsiness Involuntary movements Abnormality of the skeletal system Intellectual disability, severe Behavioral abnormality Sleep disturbance Scoliosis Unsteady gait Clonus Ankle clonus Hypoplasia of the pons Spastic dysarthria


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