Intellectual disability, and Tremor

Diseases related with Intellectual disability and Tremor

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

Top matches:

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Abnormal facial shape
  • Cognitive impairment


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 6; MRT6

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

HSD10 DISEASE, ATYPICAL TYPE Is also known as syndromic x-linked intellectual disability type 10|hsd10 deficiency, atypical type|x-linked intellectual disability-choreoathetosis-abnormal behavior syndrome

Related symptoms:

  • Intellectual disability
  • Behavioral abnormality
  • Abnormality of movement


SOURCES: MESH ORPHANET MENDELIAN

More info about HSD10 DISEASE, ATYPICAL TYPE

Other less relevant matches:

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Delayed speech and language development
  • Tremor
  • Intellectual disability, moderate


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 14; MRT14

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Delayed speech and language development
  • Tremor


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32; EIEE32

Parkinson disease-17 is an autosomal dominant, adult-onset form of the disorder. It is phenotypically similar to idiopathic Parkinson disease (summary by Wider et al., 2008).For a general phenotypic description and a discussion of genetic heterogeneity of Parkinson disease (PD), see {168600}.

Related symptoms:

  • Intellectual disability
  • Tremor
  • Dystonia
  • Hyperhidrosis
  • Rigidity


SOURCES: OMIM MENDELIAN

More info about PARKINSON DISEASE 17; PARK17

Familial adult myoclonic epilepsy-2 is an autosomal dominant neurologic disorder characterized by rhythmic myoclonic jerks of cortical origin. Some affected individuals have generalized tonic-clonic seizures, and rare patients show cognitive decline (summary by De Fusco et al., 2014).For a phenotypic description and a discussion of genetic heterogeneity of familial adult myoclonic epilepsy, see FAME1 (OMIM ).

EPILEPSY, FAMILIAL ADULT MYOCLONIC, 2; FAME2 Is also known as adcme|bafme2|cortical myoclonic tremor with epilepsy, familial, 2|benign adult familial myoclonic epilepsy 2|cortical myoclonus and epilepsy, autosomal dominant|fcmte2

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Cognitive impairment
  • Tremor


SOURCES: MESH OMIM MENDELIAN

More info about EPILEPSY, FAMILIAL ADULT MYOCLONIC, 2; FAME2

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 55, WITH SEIZURES; MRD55

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 3; CAMRQ3 Is also known as cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3

Related symptoms:

  • Intellectual disability
  • Ataxia
  • Strabismus
  • Dysarthria
  • Tremor


SOURCES: OMIM MESH MENDELIAN

More info about CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 3; CAMRQ3

Hyperinsulism due to glucokinase deficiency (HIGCK) is a form of diazoxide-sensitive diffuse hyperinsulinism (see this term), caused by a lowered threshold for insulin release, characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae.

HYPERINSULINISM DUE TO GLUCOKINASE DEFICIENCY Is also known as hyperinsulinemic hypoglycemia due to glucokinase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Muscle weakness
  • Fatigue
  • Diabetes mellitus


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HYPERINSULINISM DUE TO GLUCOKINASE DEFICIENCY

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

Symptoms // Phenotype % cases
Seizures Uncommon - Between 30% and 50% cases
Ataxia Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Myoclonus Uncommon - Between 30% and 50% cases
Delayed speech and language development Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Rare Symptoms - Less than 30% cases

Cognitive impairment Dystonia Dysarthria Hand tremor Intellectual disability, moderate Intellectual disability, mild Status epilepticus Strabismus Atonic seizures Absence seizures Autism Generalized myoclonic seizures Abnormal cerebellum morphology Autistic behavior EEG abnormality Falls Gait ataxia Motor delay Cerebellar hypoplasia Fatigue Frequent falls Hyperinsulinemic hypoglycemia Abnormality of nervous system physiology Abnormality of the autonomic nervous system Fasting hyperinsulinemia Hypoglycemic coma Hypoglycemic seizures Hypoketotic hypoglycemia Recurrent hypoglycemia Hyperinsulinemia Truncal ataxia Type II diabetes mellitus Coma Hypoglycemia Diabetes mellitus Jerk-locked premyoclonus spikes Muscle weakness Slurred speech Enhancement of the C-reflex Focal impaired awareness seizure EEG with irregular generalized spike and wave complexes Abnormality of the nervous system Absent speech Narrow palate Abnormality of movement Behavioral abnormality CNS hypomyelination Leukodystrophy Hypogonadism Hyperhidrosis Abnormality of the dentition Cerebellar atrophy Hypoplasia of the corpus callosum Myopia Spasticity Abnormal facial shape Epileptic encephalopathy Rigidity EEG with photoparoxysmal response Dementia Giant somatosensory evoked potentials Blepharospasm Involuntary movements Focal-onset seizure Generalized tonic-clonic seizures Mental deterioration Lewy bodies Dyskinesia Resting tremor Akinesia Schizophrenia Bradykinesia Memory impairment Parkinsonism Postural instability Abnormal C-peptide level


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