Intellectual disability, severe, and Lissencephaly

Diseases related with Intellectual disability, severe and Lissencephaly

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


Top matches:

High match BILATERAL FRONTOPARIETAL POLYMICROGYRIA


Bilateral frontoparietal polymicrogyria (BFPP) is a sub-type of polymicrogyria (PMG; see this term), a cerebral cortical malformation characterized by excessive cortical folding and abnormal cortical layering, that involves the frontoparietal region of the brain and that presents with hypotonia, developmental delay, moderate to severe intellectual disability, pyramidal signs, epileptic seizures, non progressive cerebellar ataxia, dysconjugate gaze and/or strabismus.

BILATERAL FRONTOPARIETAL POLYMICROGYRIA Is also known as cerebellar ataxia with neuronal migration defect

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Ataxia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about BILATERAL FRONTOPARIETAL POLYMICROGYRIA

High match LISSENCEPHALY 3; LIS3


Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about LISSENCEPHALY 3; LIS3

High match DYSEQUILIBRIUM SYNDROME


Dysequilibrium syndrome (DES) is a non-progressive cerebellar disorder characterized by ataxia associated with an intellectual disability, delayed ambulation and cerebellar hypoplasia.

DYSEQUILIBRIUM SYNDROME Is also known as cerebellar ataxia-intellectual disability-dysequilibrium syndrome syndrome|cerebellar hypoplasia, vldlr-associated|non-progressive cerebellar ataxia-intellectual disability syndrome|cerebellar ataxia and mental retardation with or without quadrupedal loco

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about DYSEQUILIBRIUM SYNDROME

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Other less relevant matches:

High match CORTICAL DYSGENESIS WITH PONTOCEREBELLAR HYPOPLASIA DUE TO TUBB3 MUTATION


Complex cortical dysplasia with other brain malformations (CDCBM) is a disorder of aberrant neuronal migration and disturbed axonal guidance. Affected individuals have mild to severe mental retardation, strabismus, axial hypotonia, and spasticity. Brain imaging shows variable malformations of cortical development, including polymicrogyria, gyral disorganization, and fusion of the basal ganglia, as well as thin corpus callosum, hypoplastic brainstem, and dysplastic cerebellar vermis. Extraocular muscles are not involved (summary by Poirier et al., 2010).Mutation in the TUBB3 gene can also cause congenital fibrosis of extraocular muscles-3A (CFEOM3A ), a milder and somewhat different neurologic phenotype. Genetic Heterogeneity of Complex Cortical Dysplasia With Other Brain MalformationsSee also CDCBM2 (OMIM ), caused by mutation in the KIF5C gene (OMIM ) on chromosome 2q23; CDCBM3 (OMIM ), caused by mutation in the KIF2A gene (OMIM ) on chromosome 5q12; CDCBM4 (OMIM ), caused by mutation in the TUBG1 gene (OMIM ) on chromosome 17q21; CDCBM5 (OMIM ), caused by mutation in the TUBB2A gene (OMIM ) on chromosome 6p25; CDCBM6 (OMIM ), caused by mutation in the TUBB gene (OMIM ) on chromosome 6p21; CDCBM7 (OMIM ), caused by mutation in the TUBB2B gene (OMIM ) on chromosome 6p25; and CDCBM8 (OMIM ), caused by mutation in the TUBA8 gene (OMIM ) on chromosome 22q11.See also lissencephaly (e.g., LIS1, {607432}), which shows overlapping features and may result from mutation in tubulin genes.

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about CORTICAL DYSGENESIS WITH PONTOCEREBELLAR HYPOPLASIA DUE TO TUBB3 MUTATION

High match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9; MDDGA9


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, and congenital muscular dystrophy. The phenotype includes the alternative clinical designation Walker-Warburg syndrome (WWS), which is associated with death in infancy. The disorder represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1), collectively known as 'dystroglycanopathies' (summary by Geis et al., 2013 and Riemersma et al., 2015).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, 9; MDDGA9 Is also known as walker-warburg syndrome or muscle-eye brain disease, dag1-related

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9; MDDGA9

High match MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICAL MALFORMATIONS; MCPH2


Microcephaly-2 with or without cortical malformations is an autosomal recessive neurodevelopmental disorder showing phenotypic variability. Classically, primary microcephaly is a clinical diagnosis made when an individual has a head circumference more than 3 standard deviations (SD) below the age- and sex-matched population mean, and mental retardation with no other associated malformations and with no apparent etiology (Hofman, 1984). Patients with WDR62 mutations have head circumferences ranging from low-normal to severe (-9.8 SD), and most patients with brain scans have shown various types of cortical malformations. All have delayed psychomotor development; seizures are variable (summary by Yu et al., 2010).For a general phenotypic description and a discussion of genetic heterogeneity of primary microcephaly, see MCPH1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Growth delay


SOURCES: OMIM MESH MENDELIAN

More info about MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICAL MALFORMATIONS; MCPH2

High match NDE1-RELATED MICROHYDRANENCEPHALY


NDE1-related microhydranencephaly is a rare, hereditary syndrome with a central nervous system malformation as major feature characterized by extreme microcephaly and growth restriction, severe motor delay and mental retardation, and typical radiological findings of gross dilation of the ventricles resulting from the absence (or severe delay in the development) of cerebral hemispheres, hypoplasia of the corpus callosum, cerebellum, and brainstem. Associated features are thin bones and scalp rugae.

NDE1-RELATED MICROHYDRANENCEPHALY Is also known as hydranencephaly and microcephaly|mhac

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about NDE1-RELATED MICROHYDRANENCEPHALY

High match WEST SYNDROME


West syndrome (or infantile spasms) is characterised by the association of clusters of axial spasms, psychomotor retardation and an hypsarrhythmic interictal EEG pattern. It is the most frequent type of epileptic encephalopathy. It may occur in otherwise healthy infants and in those with abnormal cognitive development.

WEST SYNDROME Is also known as intellectual disability-hypsarrhythmia syndrome|infantile spasm syndrome, x-linked 1|xmesid|west syndrome, x-linked|ohtahara syndrome, x-linked|infantile spasms|infantile epileptic-dyskinetic encephalopathy|issx1

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about WEST SYNDROME

High match CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2; CAMRQ2


Cerebellar ataxia, mental retardation, and dysequilibrium syndrome (CAMRQ) is a genetically heterogeneous disorder characterized by congenital cerebellar ataxia and mental retardation (summary by Gulsuner et al., 2011).For a discussion of genetic heterogeneity of CAMRQ, see CAMRQ1 (OMIM ).

CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2; CAMRQ2 Is also known as cerebellar ataxia and mental retardation with or without quadrupedal locomotion 2

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Ataxia


SOURCES: MESH OMIM MENDELIAN

More info about CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2; CAMRQ2

High match RETT SYNDROME, CONGENITAL VARIANT


The congenital variant of Rett syndrome is a severe neurodevelopmental disorder with features of classic Rett syndrome (RTT ), but earlier onset in the first months of life. Classic Rett syndrome shows later onset and is caused by mutation in the MECP2 gene (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about RETT SYNDROME, CONGENITAL VARIANT

Top 5 symptoms//phenotypes associated to Intellectual disability, severe and Lissencephaly

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Global developmental delay Very Common - Between 80% and 100% cases
Microcephaly Common - Between 50% and 80% cases
Cerebellar hypoplasia Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Intellectual disability, severe and Lissencephaly. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Hypoplasia of the corpus callosum

Uncommon Symptoms - Between 30% and 50% cases


Pachygyria

Common Symptoms - More than 50% cases


Ataxia

Uncommon Symptoms - Between 30% and 50% cases


Hyperreflexia Ventriculomegaly Motor delay Strabismus Absent speech Hypoplasia of the brainstem Generalized hypotonia Spasticity Polymicrogyria Delayed speech and language development Intellectual disability, moderate Cortical dysplasia Heterotopia Cognitive impairment Intellectual disability, profound Muscular hypotonia of the trunk Agenesis of corpus callosum Tetraparesis Cortical gyral simplification Short stature Brain atrophy Hypertonia Dysmetria Abnormal pyramidal sign Nystagmus Truncal ataxia

Rare Symptoms - Less than 30% cases


Babinski sign Hydrocephalus Kyphosis Flexion contracture Tremor Intention tremor Global brain atrophy Neonatal hypotonia Pes planus Gait ataxia Cerebellar atrophy Generalized myoclonic seizures Poor speech Chorea Progressive microcephaly Dyskinesia Developmental regression Poor head control Growth delay Micropenis Encephalopathy Dystonia Sloping forehead Spastic tetraparesis Talipes equinovarus Athetosis Intellectual disability, progressive Skeletal muscle atrophy Dysdiadochokinesis Dysarthria Congenital muscular dystrophy Cataract Hemiparesis Muscular hypotonia Muscular dystrophy Broad-based gait Agyria Nonprogressive cerebellar ataxia Cerebellar vermis hypoplasia Dilatation Spastic tetraplegia Tetraplegia Bruxism Breathing dysregulation Dyspnea Abnormality of the nervous system Irritability Epileptic encephalopathy Myoclonus Low-set ears Postnatal growth retardation Dysphagia Epicanthus Genu valgum Severe hydrocephalus Hydranencephaly Poor eye contact Delayed myelination Profound global developmental delay Self-mutilation Generalized amyotrophy Multiple joint contractures Apraxia Postnatal microcephaly Knee flexion contracture Hypsarrhythmia Hyperkinesis Status epilepticus Short palm Atrophy of the dentate nucleus Abnormality of the neck Inappropriate laughter Aplasia of the inferior half of the cerebellar vermis Thoracic kyphosis Scoliosis Thoracic scoliosis Short foot Small hand Constipation Inability to walk Hirsutism Aspiration Autism Choreoathetosis Coarse facial features Impaired social interactions Hyporeflexia Gastroesophageal reflux Sensorineural hearing impairment Hearing impairment Abnormality of skin morphology Spastic ataxia Developmental stagnation Epileptic spasms Muscle fibrillation EEG abnormality Infantile spasms Drooling Corneal opacity Small for gestational age Hemianopia Polyneuropathy Ophthalmoplegia Gaze-evoked nystagmus Toe walking Abnormality of vision Cerebral palsy Progressive cerebellar ataxia Arachnodactyly Abnormality of movement Abnormality of the eye Abnormality of metabolism/homeostasis Gait disturbance Esodeviation Congenital microcephaly Cerebellar dysplasia Optic nerve hypoplasia Cerebral dysmyelination Abnormal cerebellum morphology Esotropia Exotropia Ankle clonus Type II lissencephaly Perisylvian polymicrogyria Frontoparietal polymicrogyria Abnormality of neuronal migration Polymicrogyria, anterior to posterior gradient Feeding difficulties Blindness Intellectual disability, mild Focal-onset seizure Cerebral visual impairment External ophthalmoplegia Congenital contracture Prominent nasal bridge Micrognathia Macrotia Proptosis Schizencephaly Abnormal corpus callosum morphology Maternal diabetes Impulsivity Thick lower lip vermilion Decreased fetal movement Aggressive behavior Hyperactivity Long philtrum Intrauterine growth retardation Wide nasal bridge Abnormal facial shape Cerebellar cyst Spastic diplegia Glaucoma Congenital fibrosis of extraocular muscles Myopia Macrocephaly Myopathy Microphthalmia Elevated serum creatine phosphokinase Respiratory failure Buphthalmos Abnormality of the cerebral white matter Retinal dystrophy Cerebral calcification High myopia Leukodystrophy Holoprosencephaly Tongue thrusting



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