Intellectual disability, severe, and Hypertonia

Diseases related with Intellectual disability, severe and Hypertonia

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

Top matches:

This syndrome is characterised by myoclonic epilepsy with generalised spasticity and intellectual deficit. It has been described in six males from two generations of one family. Transmission appears to be X-linked recessive and the syndrome is caused by mutations in the aristaless-related homeobox gene (ARX, Xp22.13).

Related symptoms:

  • Intellectual disability
  • Spasticity
  • Hypertonia
  • Rigidity
  • Status epilepticus


SOURCES: ORPHANET MENDELIAN

More info about X-LINKED SPASTICITY-INTELLECTUAL DISABILITY-EPILEPSY SYNDROME

Type 1 lissencephaly due to doublecortin (DCX) gene mutations is a semi-dominant X-linked disease characterised by intellectual deficiency and seizures that are more severe in male patients.

LISSENCEPHALY TYPE 1 DUE TO DOUBLECORTIN GENE MUTATION Is also known as x-linked lissencephaly type 1

Related symptoms:

  • Seizures
  • Muscular hypotonia
  • Feeding difficulties
  • Intellectual disability, severe
  • Hypertonia


SOURCES: ORPHANET MENDELIAN

More info about LISSENCEPHALY TYPE 1 DUE TO DOUBLECORTIN GENE MUTATION

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 63; MRT63

Other less relevant matches:

Guanidinoacetate methyltransferase (GAMT) deficiency is a creatine deficiency syndrome characterized by global developmental delay/intellectual disability (DD/ID), prominent speech delay, autistic/hyperactive behavioral disorders, seizures, and various types of pyramidal and/or extra-pyramidal manifestations.

GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY Is also known as gamt deficiency|creatine deficiency syndrome due to gamt deficiency|guanidinoacetate methyltransferase deficiency

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY

Early infantile epileptic encephalopathy-8 is an X-linked disorder characterized by seizure onset before 2 years of age and severe developmental delay. Some patients have hyperekplexia (summary by Shimojima et al., 2011).For general phenotypic descriptions and discussions of genetic heterogeneity of early infantile epileptic encephalopathy and hyperekplexia, see EIEE1 (OMIM ) and hereditary hyperekplexia (OMIM ), respectively.

HYPEREKPLEXIA-EPILEPSY SYNDROME Is also known as hyperekplexia and epilepsy

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Intellectual disability, severe
  • Hypertonia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about HYPEREKPLEXIA-EPILEPSY SYNDROME

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

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

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE; MCPH15

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4; EIEE4

Female restricted epilepsy with intellectual disability is a rare X-linked epilepsy syndrome characterized by febrile or afebrile seizures (mainly tonic-clonic, but also absence, myoclonic, and atonic) starting in the first years of life and, in most cases, developmental delay and intellectual disability of variable severity. Behavioral disturbances (e.g. autistic features, hyperactivity, and aggressiveness) are also frequently associated. This disease affects exclusively females, with male carriers being unaffected, despite an X-linked inheritance.

FEMALE RESTRICTED EPILEPSY WITH INTELLECTUAL DISABILITY Is also known as juberg-hellman syndrome|efmr|epilepsy, female-restricted, with mental retardation

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about FEMALE RESTRICTED EPILEPSY WITH INTELLECTUAL DISABILITY

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

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Seizures Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Encephalopathy Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Epileptic encephalopathy Spasticity Hypoplasia of the corpus callosum Hyperreflexia Ataxia Generalized myoclonic seizures EEG abnormality Status epilepticus

Rare Symptoms - Less than 30% cases

Tetraparesis Hypsarrhythmia Spastic tetraparesis Absent speech Spastic tetraplegia Fever Tetraplegia Developmental regression Cognitive impairment Ventriculomegaly Generalized tonic-clonic seizures Polymicrogyria Dystonia Absence seizures Autistic behavior Muscular hypotonia of the trunk Inability to walk Delayed speech and language development Behavioral abnormality Myoclonus Hyperactivity Muscular hypotonia Intellectual disability, profound Exaggerated startle response Cerebral hypomyelination Tremor Cerebral atrophy Cerebral cortical atrophy Muscle stiffness Severe global developmental delay Spastic paraplegia Rigidity Dyskinesia Neurodegeneration CNS hypomyelination Epileptic spasms Generalized tonic seizures Infantile encephalopathy Cerebral white matter hypoplasia Impaired horizontal smooth pursuit EEG with burst suppression Scoliosis Autism Aggressive behavior Focal-onset seizure Febrile seizures Psychosis Cutaneous photosensitivity Atonic seizures Hyperventilation Bruxism Hemiclonic seizures Hemiplegia Hypoplasia of the brainstem Macrocephaly Abnormality of the nervous system Abnormality of the skeletal system Abnormal pyramidal sign Hydrocephalus Agenesis of corpus callosum Sleep disturbance Heterotopia Profound global developmental delay Nystagmus Intellectual disability, progressive Cyanosis Abnormality of movement Intellectual disability, mild Intellectual disability, moderate Progressive microcephaly Dysmetria Involuntary movements Progressive extrapyramidal movement disorder Self-mutilation Feeding difficulties Myokymia Abnormal myelination Microcephaly Talipes equinovarus Infantile muscular hypotonia Cerebellar hypoplasia Upslanted palpebral fissure Spastic gait Intermittent hyperventilation


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