Intellectual disability, and Attention deficit hyperactivity disorder

Diseases related with Intellectual disability and Attention deficit hyperactivity disorder

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

Top matches:

MENTAL RETARDATION, AUTOSOMAL RECESSIVE 2; MRT2 Is also known as mental retardation, autosomal recessive 2a|mrt2a

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 2; MRT2

Related symptoms:

  • Intellectual disability
  • Delayed speech and language development
  • Hyperactivity
  • Attention deficit hyperactivity disorder
  • Exaggerated startle response


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 54; MRT54

The Houge type of X-linked syndromic mental retardation is characterized by delayed development, intellectual disability, speech and language delay, and early-onset seizures. EEG tends to show continuous spike-wave activity or centrotemporal spikes. Some patients may have remission of seizures by adolescence. Carrier females may be mildly affected (summary by Damiano et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED, SYNDROMIC, HOUGE TYPE; MRXSHG

Other less relevant matches:

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 45; MRD45

LADCI is an autosomal recessive neurodevelopmental disorder characterized by severe expressive and receptive language delay apparent from early childhood. Affected individuals have additional developmental or behavioral abnormalities, including attention deficit, hyperactivity, or mild intellectual disability. Some patients develop cardiac arrhythmias reminiscent of sick sinus syndrome (summary by Lodder et al., 2016 and Shamseldin et al., 2016).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about LANGUAGE DELAY AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER/COGNITIVE IMPAIRMENT WITH OR WITHOUT CARDIAC ARRHYTHMIA; LADCI

EIEE56 is a neurodevelopmental disorder characterized by early-onset seizures in most patients, followed by intellectual disability, variable behavioral abnormalities, and sometimes additional neurologic features, such as ataxia (summary by Guella et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 56; EIEE56

Autism, the prototypic pervasive developmental disorder (PDD), is usually apparent by 3 years of age. It is characterized by a triad of limited or absent verbal communication, a lack of reciprocal social interaction or responsiveness, and restricted, stereotypical, and ritualized patterns of interests and behavior (Bailey et al., 1996; Risch et al., 1999). 'Autism spectrum disorder,' sometimes referred to as ASD, is a broader phenotype encompassing the less severe disorders Asperger syndrome (see ASPG1; {608638}) and pervasive developmental disorder, not otherwise specified (PDD-NOS). 'Broad autism phenotype' includes individuals with some symptoms of autism, but who do not meet the full criteria for autism or other disorders. Mental retardation coexists in approximately two-thirds of individuals with ASD, except for Asperger syndrome, in which mental retardation is conspicuously absent (Jones et al., 2008). Genetic studies in autism often include family members with these less stringent diagnoses (Schellenberg et al., 2006).Levy et al. (2009) provided a general review of autism and autism spectrum disorder, including epidemiology, characteristics of the disorder, diagnosis, neurobiologic hypotheses for the etiology, genetics, and treatment options.

AUTISM, SUSCEPTIBILITY TO, X-LINKED 4; AUTSX4 Is also known as chromosome xp22 deletion syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about AUTISM, SUSCEPTIBILITY TO, X-LINKED 4; AUTSX4

FRAXE is a form of nonsyndromic X-linked mental retardation (NS-XLMR) characterized by mild intellectual deficit. FRAXE is the most common form of NS-XLMR.

FRAXE INTELLECTUAL DISABILITY Is also known as fraxe mental retardation syndrome|intellectual disability associated with fragile site fraxe

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Delayed speech and language development


SOURCES: ORPHANET OMIM MENDELIAN

More info about FRAXE INTELLECTUAL DISABILITY

FAMILIAL INFANTILE MYOCLONIC EPILEPSY Is also known as fime|eim|familial infantile myoclonus epilepsy

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL INFANTILE MYOCLONIC EPILEPSY

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Ataxia
  • Nystagmus
  • Cognitive impairment


SOURCES: OMIM MENDELIAN

More info about COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA; CIAT

Top 5 symptoms//phenotypes associated to Intellectual disability and Attention deficit hyperactivity disorder

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Delayed speech and language development Common - Between 50% and 80% cases
Hyperactivity Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Intellectual disability, mild Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Intellectual disability and Attention deficit hyperactivity disorder. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Ataxia Impulsivity Aggressive behavior Generalized hypotonia Febrile seizures

Rare Symptoms - Less than 30% cases

Motor delay Autistic behavior Broad-based gait Absence seizures Focal-onset seizure Absent speech Generalized myoclonic seizures Developmental regression Behavioral abnormality Cognitive impairment Autism Dysarthria Anxiety Gait disturbance Impaired social interactions Myoclonus Mental deterioration Irritability Agitation Generalized tonic-clonic seizures Nystagmus Abnormal cerebellum morphology Clumsiness Language impairment Muscle fibrillation Leber optic atrophy Photosensitive tonic-clonic seizures Delayed fine motor development EEG with irregular generalized spike and wave complexes Prominent nasal bridge Dysmetria Amblyopia Optic nerve hypoplasia Emotional lability Gaze-evoked nystagmus Obsessive-compulsive behavior Poor coordination Intellectual disability, moderate Sick sinus syndrome Intellectual disability, severe Exaggerated startle response Cerebral cortical atrophy Abnormality of the cerebral white matter Poor speech Focal impaired awareness seizure Arrhythmia Bradycardia Keratoconus Sinus bradycardia Receptive language delay Abnormality of metabolism/homeostasis Scoliosis EEG abnormality Status epilepticus Obsessive-compulsive trait Eyelid fasciculation Atrial septal defect Tics Motor tics Short stature Microcephaly Epicanthus Esophoria


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