Cognitive impairment, and Hypoplasia of the corpus callosum

Diseases related with Cognitive impairment and Hypoplasia of the corpus callosum

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


Top matches:

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 AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 56


SPG56 is an autosomal recessive neurodegenerative disorder characterized by early-onset progressive lower-limb spasticity resulting in walking difficulties. Upper limbs are often also affected, and some patients may have a subclinical axonal neuropathy (summary by Tesson et al., 2012).For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see {270800}.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 56 Is also known as spg56

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Spasticity
  • Cognitive impairment
  • Motor delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 56

Medium match LISSENCEPHALY 6 WITH MICROCEPHALY; LIS6


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

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Other less relevant matches:

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 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 AMYOTROPHIC LATERAL SCLEROSIS 5, JUVENILE; ALS5


Autosomal recessive juvenile amyotrophic lateral sclerosis-5 is a neurodegenerative disorder characterized by onset of upper and lower motor neuron signs before age 25. Affected individuals have progressive spasticity of limb and facial muscles associated with distal amyotrophy. The disorder is slowly progressive, with cases of prolonged survival of more than 3 decades (summary by Orlacchio et al., 2010).For a phenotypic description and a discussion of genetic heterogeneity of amyotrophic lateral sclerosis (ALS), see ALS1 (OMIM ).

Related symptoms:

  • Muscle weakness
  • Spasticity
  • Cognitive impairment
  • Hyperreflexia
  • Dysarthria


SOURCES: OMIM MESH MENDELIAN

More info about AMYOTROPHIC LATERAL SCLEROSIS 5, JUVENILE; ALS5

Medium match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 53; EIEE53


Early infantile epileptic encephalopathy-53 is a severe neurodegenerative disorder characterized by onset of intractable seizures in infancy. Affected individuals show hypotonia and very poor or absent global development, resulting in severe intellectual disability and spastic quadriplegia. Some patients may die in childhood (summary by Hardies et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Feeding difficulties
  • Visual impairment


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 53; EIEE53

Medium match X-LINKED INTELLECTUAL DISABILITY, HEDERA TYPE


X-linked intellectual disability, Hedera type is a rare X-linked intellectual disability syndrome characterized by an onset in infancy of delayed motor and speech milestones, generalized tonic-clonic seizures and drop attacks, and mild to moderate intellectual disability. Additional, less common manifestations include scoliosis, ataxia (resulting in progressive gait disturbance), and bilateral pes planovalgus. Physical appearance is normal with no dysmorphic features reported.

X-LINKED INTELLECTUAL DISABILITY, HEDERA TYPE Is also known as mental retardation, x-linked, with epilepsy|mrxsh|mrxe

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Scoliosis
  • Cognitive impairment


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, HEDERA TYPE

Medium match AUTOSOMAL RECESSIVE CHARCOT-MARIE-TOOTH DISEASE TYPE 2X


Charcot-Marie-Tooth disease type 2X (CMT2X) is an autosomal recessive, slowly progressive, axonal peripheral sensorimotor neuropathy characterized by lower limb muscle weakness and atrophy associated with distal sensory impairment and gait difficulties. Some patients also have involvement of the upper limbs. Onset usually occurs in the first 2 decades of life, although later onset can also occur (summary by Montecchiani et al., 2016)For a phenotypic description and a discussion of genetic heterogeneity of axonal CMT, see CMT2A1 (OMIM ).

AUTOSOMAL RECESSIVE CHARCOT-MARIE-TOOTH DISEASE TYPE 2X Is also known as autosomal recessive charcot-marie-tooth disease type 2 due to spg11 mutation|charcot-marie-tooth disease, axonal, autosomal recessive, type 2x|charcot-marie-tooth neuropathy, type 2x|cmt2x|arcmt2x

Related symptoms:

  • Muscle weakness
  • Spasticity
  • Cognitive impairment
  • Flexion contracture
  • Peripheral neuropathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE CHARCOT-MARIE-TOOTH DISEASE TYPE 2X

Medium match POLYMICROGYRIA DUE TO TUBB2B MUTATION


Complex cortical dysplasia with other brain malformations-7 is an autosomal dominant, clinically heterogeneous disorder showing a wide spectrum of abnormalities of cortical brain development. The most severely affected patients are fetuses with microlissencephaly, absence of the cortical plate, agenesis of the corpus callosum, and severely hypoplastic brainstem and cerebellum. Other patients have lissencephaly, polymicrogyria, cortical dysplasia, or neuronal heterotopia. Those with less severe malformations can survive, but usually have some degree of neurologic impairment, such as mental retardation, seizures, and movement abnormalities (summary by Chang et al., 2006; Fallet-Bianco et al., 2014).For a discussion of genetic heterogeneity of CDCBM, see CDCBM1 (OMIM ).

POLYMICROGYRIA DUE TO TUBB2B MUTATION Is also known as polymicrogyria, symmetric or asymmetric|pmgysa

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about POLYMICROGYRIA DUE TO TUBB2B MUTATION

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

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Motor delay Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Babinski sign Hyperreflexia Spasticity Tremor Dystonia Nystagmus

Rare Symptoms - Less than 30% cases


Muscle weakness Spastic tetraplegia Lissencephaly Encephalopathy Abnormality of the nervous system Cerebellar atrophy Intellectual disability, moderate Dysmetria Tetraplegia Epileptic encephalopathy Hypsarrhythmia Skeletal muscle atrophy Feeding difficulties Delayed speech and language development Dysarthria Drooling Pachygyria Fasciculations Abnormal pyramidal sign Distal amyotrophy Heterotopia Gait disturbance Polymicrogyria Ataxia Agenesis of corpus callosum Hypertonia Peripheral neuropathy Microcephaly Spastic gait Ventriculomegaly Peripheral axonal neuropathy Infantile spasms Hypoplasia of the pons Congenital fibrosis of extraocular muscles Hemianopia Atonic seizures Epileptic spasms Action tremor Resting tremor Unilateral polymicrogyria Limited extraocular movements Slurred speech Apraxia Bradykinesia Generalized myoclonic seizures Parkinsonism Postural instability Generalized tonic-clonic seizures Rigidity Hyporeflexia Cerebral atrophy Hypomimic face Hypoplasia of the brainstem Agraphesthesia Kyphoscoliosis Sensory axonal neuropathy Foot dorsiflexor weakness Sensorimotor neuropathy Sensory impairment Distal sensory impairment Lower limb muscle weakness Scoliosis Ankle contracture Limb muscle weakness Proximal muscle weakness Ptosis Cortical dysplasia Cerebellar hypoplasia Abnormality of the eye Focal-onset seizure Pes cavus Areflexia Flexion contracture Astereognosia Specific learning disability Hemiparesis Abnormality of the hand Abnormality of the foot Rotary nystagmus Progressive spastic quadriplegia Basal ganglia calcification Intellectual disability, mild Intellectual disability, severe Dilation of lateral ventricles Limb hypertonia Partial agenesis of the corpus callosum Cortical gyral simplification Sloping forehead Severe global developmental delay Abnormal facial shape Abnormal globus pallidus morphology Lower limb hyperreflexia EEG abnormality Toe walking Unsteady gait Paraplegia Abnormality of the cerebral white matter Spastic paraplegia Molar tooth sign on MRI Oculomotor apraxia Truncal ataxia Abnormality of eye movement Strabismus Myoclonus Muscular hypotonia of the trunk Progressive neurologic deterioration Amyotrophic lateral sclerosis Status epilepticus Intellectual disability, profound Increased serum lactate Gliosis Elevated serum creatine phosphokinase Visual impairment Decreased number of large peripheral myelinated nerve fibers Abnormal lower motor neuron morphology Bulbar signs Progressive spasticity Respiratory insufficiency due to muscle weakness Tetraparesis Distal muscle weakness Difficulty walking CNS hypomyelination Leukodystrophy Broad-based gait Intention tremor Gait ataxia Abnormal myelination Myokymia Spastic tetraparesis Frontoparietal cortical dysplasia



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